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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FGF13	2258	broad.mit.edu	37	X	137785196	137785196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:137785196G>A	uc004fam.3	-	2	1014	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	FGF13_uc004fan.3_Nonsense_Mutation_p.Q65*|FGF13_uc011mwi.2_Nonsense_Mutation_p.Q99*|FGF13_uc004faq.3_Nonsense_Mutation_p.Q128*|FGF13_uc004far.3_Nonsense_Mutation_p.Q99*|FGF13_uc011mwj.2_Nonsense_Mutation_p.Q128*|FGF13_uc011mwk.2_Nonsense_Mutation_p.Q72*	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	118					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTTGGTTTGAACTCCTTGG	0.398000														36			23		0	0	0.000720815	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481679	27481679	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:27481679C>T	uc002rjk.3	-	1	405	c.219G>A	c.(217-219)cgG>cgA	p.R73R	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Silent_p.R68R	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	73					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCCTCCGTGCATGCA	0.607000														50			11		0	0	0.000978159	0	0
ELN	2006	broad.mit.edu	37	7	73474338	73474338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:73474338G>A	uc003tzw.3	+	22	1646	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	ELN_uc003tzn.3_Missense_Mutation_p.V513I|ELN_uc003tzy.3_Missense_Mutation_p.V489I|ELN_uc003tzz.3_Missense_Mutation_p.V432I|ELN_uc003tzo.3_Missense_Mutation_p.V480I|ELN_uc003tzp.3_Missense_Mutation_p.V424I|ELN_uc003tzq.3_Missense_Mutation_p.V377I|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.V494I|ELN_uc003tzt.3_Missense_Mutation_p.V518I|ELN_uc003tzu.3_Missense_Mutation_p.V499I|ELN_uc003tzv.3_Missense_Mutation_p.V484I|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.V503I|ELN_uc011kff.2_Missense_Mutation_p.V513I	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	542	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCTCCTGGCGTTGGCGTGGC	0.657000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							136			10		0	0	0.000673444	0	0
GFRAL	389400	broad.mit.edu	37	6	55266587	55266587	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:55266587G>A	uc003pcm.1	+	9	1208	c.1122_splice	c.e9-1	p.R374_splice		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	374						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTTTATACAGAACTTCCAGA	0.368000														36			7		0	0	0.000157383	0	0
TRPC4	7223	broad.mit.edu	37	13	38248490	38248490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:38248490C>T	uc010abx.3	-	4	1484	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E417K|TRPC4_uc001uws.3_Missense_Mutation_p.E417K|TRPC4_uc010tey.2_Missense_Mutation_p.E417K|TRPC4_uc010abw.3_Missense_Mutation_p.E244K|TRPC4_uc010aby.3_Missense_Mutation_p.E417K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	417					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGTTTAATTTCTCCCCATATG	0.333000														41			4		0	0	0.00024832	0	0
TRANK1	9881	broad.mit.edu	37	3	36872539	36872539	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:36872539C>T	uc003cgj.3	-	20	8651	c.8403G>A	c.(8401-8403)gtG>gtA	p.V2801V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2801					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						TGGCCGGGTCCACCTTCTCGT	0.532000														150			8		0	0	0.000274275	0	0
CACNG3	10368	broad.mit.edu	37	16	24268231	24268231	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:24268231G>A	uc002dmf.3	+	0	1358	c.156G>A	c.(154-156)agG>agA	p.R52R		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	52					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)		AAACCAGCAGGAAGAATGAAG	0.438000														58			10		0	0	0.000673444	0	0
MGST2	4258	broad.mit.edu	37	4	140625252	140625252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:140625252G>A	uc003ihy.3	+	4	646	c.394G>A	c.(394-396)Gat>Aat	p.D132N	MGST2_uc021xsf.1_Missense_Mutation_p.D132N|MGST2_uc010ioi.1_Missense_Mutation_p.D64N|MGST2_uc021xse.1_3'UTR	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	132					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGCTTTCTGGATGAATATCT	0.478000														82			6		0	0	0.00198382	0	0
DNAH3	55567	broad.mit.edu	37	16	20974825	20974825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:20974825G>A	uc010vbe.2	-	52	10381	c.10381C>T	c.(10381-10383)Cct>Tct	p.P3461S	DNAH3_uc010vbd.2_Missense_Mutation_p.P896S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3461					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)		CAAGACCCAGGGAGTTGCTCC	0.532000														35			10		0	0	0.000673444	0	0
OR13C3	138803	broad.mit.edu	37	9	107298289	107298289	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:107298289G>A	uc004bcb.1	-	0	806	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGAGCACGTGGAAAATGCCTT	0.428000														64			10		0	0	0.00136819	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397470	40397470	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:40397470C>T	uc002rrx.3	-	5	2013	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.K658K|SLC8A1_uc002rsb.2_Silent_p.K655K|SLC8A1_uc002rrz.3_Silent_p.K650K|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	663					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGCATGAACCTTCCTGAAGA	0.418000														30			4		0	0	0.000602214	0	0
FHDC1	85462	broad.mit.edu	37	4	153896921	153896921	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:153896921C>T	uc003inf.2	+	10	2553	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	826					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)					ACCCTACATCCAGCCCCCCTG	0.642000														62			16		0	0	0.000308642	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920709	89920709	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:89920709C>T	uc002foz.1	+	3	713	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SPIRE2_uc010civ.1_Missense_Mutation_p.R136W|SPIRE2_uc010ciw.1_Missense_Mutation_p.R221W|SPIRE2_uc002fpa.1_Missense_Mutation_p.R173W|SPIRE2_uc010cix.1_Missense_Mutation_p.R90W	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	221					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCAGAAGCTTCGGGAGGACGA	0.642000														9			4		0	0	0.00116845	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152108	55152108	+	Missense_Mutation	SNP	C	T	T	rs121913263		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:55152108C>T	uc003han.4	+	17	2871	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	PDGFRA_uc003haa.3_Missense_Mutation_p.S607L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	847	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.(814_854)?(57)|p.I843_D846del(26)|p.M844_S847del(11)|p.I843_S847>T(7)|p.H845_N848>P(4)|p.D842_D846>H(4)|p.D842_D846>E(3)|p.S847fs*1(2)|p.D842_D846del(2)|p.D842_S847>EA(2)|p.D846Y(2)|p.D842_D846>A(2)|p.M844_S847>P(2)|p.I843_S847>L(1)|p.I843_S847>H(1)|p.I843_S847>I(1)|p.H845_N848del(1)|p.D846A(1)|p.D842_S847>RV(1)|p.D842_D846>S(1)|p.D842_D846>G(1)|p.D842_D846>N(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGCATGATTCGAACTATGTG	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				93			10		0	0	0.000673444	0	0
CERS2	29956	broad.mit.edu	37	1	150939673	150939673	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:150939673G>A	uc001evy.3	-	7	1044	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CERS2_uc001evz.3_Silent_p.F206F|CERS2_uc009wmh.3_Silent_p.F56F	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	206	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTGTTCCTTGAAATCCTGCA	0.493000														59			21		0	0	0.00229938	0	0
CAD	790	broad.mit.edu	37	2	27446824	27446824	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:27446824T>G	uc002rji.3	+	7	1197	c.1035T>G	c.(1033-1035)gaT>gaG	p.D345E	CAD_uc010eyw.3_Missense_Mutation_p.D345E	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	345	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.D345Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCCCTTCAGATATGGAACTGC	0.507000														180			35		0	0	0.00222228	0	0
VPREB1	7441	broad.mit.edu	37	22	22599667	22599668	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:22599667_22599668CC>AT	uc002zvx.1	+	1	382_383	c.356_357CC>AT	c.(355-357)gcc>gAT	p.A119D	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	119	Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GCTATGGGGGCCCGCAGCTCgg	0.569000														6			4		0	0	6.4e-05	0	0
OR1L8	138881	broad.mit.edu	37	9	125330591	125330591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125330591G>A	uc004bmp.1	-	0	166	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L56V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGGGTCTGAAGATGGGGGTTG	0.458000														83			7		0	0	0.000157383	0	0
WDR65	149465	broad.mit.edu	37	1	43663253	43663254	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:43663253_43663254GT>AA	uc021omk.1	+	6	1298_1299	c.1152_1153GT>AA	c.(1150-1155)atgtat>atAAat	p.384_385MY>IN	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.373_374MY>IN|WDR65_uc001ciq.2_Missense_Mutation_p.384_385MY>IN|WDR65_uc001cip.2_Missense_Mutation_p.384_385MY>IN	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	384										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTATTTGATGTATCCATTGCA	0.485000														83			24		0	0	6.4e-05	0	0
PER1	5187	broad.mit.edu	37	17	8051324	8051324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:8051324G>A	uc002gkd.3	-	9	1463	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.H393Y	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	409	PAS 2.				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						CTCTTCTTGTGGATAGCCAGC	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						9			4		0	0	0.00024832	0	0
PPP1R42	286187	broad.mit.edu	37	8	67900707	67900707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:67900707C>T	uc003xxc.3	-	5	743	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 42 (PPP1R42), mRNA.	200																	CCATTTAGATCAATTTTCCAC	0.308000														26			7		0	0	0.00198382	0	0
CWC22	57703	broad.mit.edu	37	2	180810261	180810261	+	Silent	SNP	A	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:180810261A>G	uc010frh.1	-	19	2622	c.2322T>C	c.(2320-2322)ggT>ggC	p.G774G	CWC22_uc002uno.2_Silent_p.G296G|CWC22_uc002unp.2_Silent_p.G774G	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	774						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCCAATTTGAACCACTTGAAT	0.383000														132			26		0	0	0.00106085	0	0
OR13C4	138804	broad.mit.edu	37	9	107289152	107289152	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:107289152G>A	uc011lvn.2	-	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCCAAGGAGGAAACATTCTG	0.443000														79			9		0	0	0.000442599	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:75072544C>T	uc001dgg.3	-	9	1449	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.P204P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	410								p.P410P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000														34			6		0	0	0.00198382	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					47			27		0	0	0.00127121	0	0
USP17L2	377630	broad.mit.edu	37	8	11995065	11995065	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:11995065C>G	uc003wvc.1	-	0	1205	c.1205G>C	c.(1204-1206)cGa>cCa	p.R402P	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	402					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCGTTGCTCGCCTGTCTGT	0.562000														61			6		0	0	0.00198382	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147175	52147175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:52147175C>T	uc002pxf.4	-	4	989	c.869G>A	c.(868-870)gGa>gAa	p.G290E		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	290	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGGCTTTTCCCTCCCGGAA	0.597000														18			5		0	0	0.000157383	0	0
PLIN4	729359	broad.mit.edu	37	19	4512463	4512463	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:4512463G>A	uc002mar.1	-	2	1467	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	489	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S417S(1)|p.S489S(1)		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						TGAGCCCAGTGGACACAGCAT	0.617000														82			6		0	0	0.000157383	0	0
DCC	1630	broad.mit.edu	37	18	51025755	51025755	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:51025755G>A	uc002lfe.2	+	26	4602	c.3986G>A	c.(3985-3987)aGa>aAa	p.R1329K	DCC_uc010dpf.2_Missense_Mutation_p.R962K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACCAAGCAGAACCATCCCC	0.542000														56			8		0	0	0.000157383	0	0
CACNA1D	776	broad.mit.edu	37	3	53758023	53758023	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:53758023C>T	uc003dgv.4	+	13	2260	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F	CACNA1D_uc003dgu.4_Silent_p.F719F|CACNA1D_uc003dgy.4_Silent_p.F699F|CACNA1D_uc003dgw.4_Silent_p.F366F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	699					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCACAGTGTTCCAGGTGAGTC	0.493000														33			10		0	0	0.000442599	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:138452734G>A	uc003ihe.4	-	0	896	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_uc003ihf.4_Missense_Mutation_p.S163F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000														33			5		0	0	0.000602214	0	0
MAT2A	4144	broad.mit.edu	37	2	85770071	85770071	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:85770071C>T	uc002spr.3	+	7	1309	c.999C>T	c.(997-999)ttC>ttT	p.F333F	MAT2A_uc010ysr.2_Silent_p.F333F|MAT2A_uc010fgl.2_Silent_p.F270F	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	333					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCATTTTCCATTATGGTA	0.388000														99			19		0	0	0.000958276	0	0
PAPPA	5069	broad.mit.edu	37	9	119106879	119106879	+	Silent	SNP	T	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:119106879T>G	uc004bjn.3	+	13	4050	c.3669T>G	c.(3667-3669)gcT>gcG	p.A1223A	PAPPA_uc011lxq.2_Silent_p.A598A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1223	Sushi 1.				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						TGGAGAATGCTTCTCTCAATT	0.572000														81			13		0	0	0.00244969	0	0
AKAP6	9472	broad.mit.edu	37	14	33293351	33293351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:33293351C>T	uc001wrq.3	+	12	6502	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTTTTATTCGTACTTATCT	0.463000														60			13		0	0	0.00136819	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532015	190532015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:190532015C>T	uc002uqt.3	+	3	1591	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	386	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAAGAATTCTCTAAAGATGTT	0.398000														25			6		0	0	0.00198382	0	0
TRPV5	56302	broad.mit.edu	37	7	142612069	142612069	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:142612069G>A	uc003wby.1	-	10	1698	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	478					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCATGATGGTGAAGGGACCCA	0.557000														27			20		0	0	0.00121646	0	0
NRP2	8828	broad.mit.edu	37	2	206630209	206630209	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:206630209G>A	uc002vaw.3	+	13	3110	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	NRP2_uc002vau.3_Silent_p.E773E|NRP2_uc002vav.3_Silent_p.E773E|NRP2_uc002vax.3_Silent_p.E773E|NRP2_uc002vay.3_Silent_p.E773E	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	773	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.F772F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTGTTCGAGGGAGTGATAG	0.468000														150			14		0	0	0.000308642	0	0
FLRT3	23767	broad.mit.edu	37	20	14306599	14306599	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:14306599C>T	uc021war.1	-	0	1554	c.1554G>A	c.(1552-1554)gaG>gaA	p.E518E	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.E518E|FLRT3_uc002wow.2_Silent_p.E518E	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	518					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAGGTTCTTTCTCTTGCTCTC	0.463000														52			20		0	0	0.00152264	0	0
ARID5B	84159	broad.mit.edu	37	10	63850777	63850777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:63850777G>A	uc001jlt.2	+	9	2011	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	ARID5B_uc001jlu.2_Missense_Mutation_p.E276K	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	519					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAGGACAACGAAACAGACCA	0.537000														64			14		0	0	0.000422831	0	0
ZNF226	7769	broad.mit.edu	37	19	44680983	44680983	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:44680983T>G	uc002oys.3	+	5	1748	c.1568T>G	c.(1567-1569)gTg>gGg	p.V523G	ZNF226_uc002oyp.3_Missense_Mutation_p.V523G|ZNF226_uc002oyq.3_Missense_Mutation_p.V406G|ZNF226_uc002oyr.3_Missense_Mutation_p.V406G|ZNF226_uc002oyt.3_Missense_Mutation_p.V523G	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GTTCATCTAGTGGTCCACACA	0.453000														36			10		0	0	0.000442599	0	0
SCN11A	11280	broad.mit.edu	37	3	38938441	38938441	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:38938441G>A	uc021wvy.1	-	13	2497	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	766					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCATTCCCCGCAGAGGATGC	0.468000														36			10		0	0	0.000978159	0	0
C11orf40	143501	broad.mit.edu	37	11	4594542	4594542	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:4594542C>A	uc010qyg.2	-	1	302	c.302G>T	c.(301-303)aGg>aTg	p.R101M		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	101								p.F100V(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTACAGTACCCTAAAGCAAGG	0.488000														80			17		1.45105e-14	6.67404e-14	0.00074312	1	0
BC101079	0	broad.mit.edu	37	15	102292820	102292820	+	Silent	SNP	G	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:102292820G>C	uc010usj.2	+	3	467	c.408G>C	c.(406-408)acG>acC	p.T136T	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000														7			3		0	0	0.00024832	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:195701278C>T	uc011btq.1	-	7	1215	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CAGGCCTGCACGACTCTGCGA	0.537000														18			7		0	0	0.000673444	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65470996	65470996	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:65470996C>T	uc001xia.3	+	1	339	c.174C>T	c.(172-174)gtC>gtT	p.V58V	CHURC1-FNTB_uc010tsl.2_Silent_p.V119V|CHURC1-FNTB_uc010tsm.2_Silent_p.V12V	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN	Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.	92					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										TCCAAGAGGTCTTCAGTTCTT	0.443000														142			22		0	0	0.000586117	0	0
YLPM1	56252	broad.mit.edu	37	14	75248353	75248353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:75248353C>T	uc001xqj.4	+	3	1731	c.1607C>T	c.(1606-1608)cCa>cTa	p.P536L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGCCCCCTCCAGTGTTGCCT	0.532000														82			20		0	0	0.00229938	0	0
CHERP	10523	broad.mit.edu	37	19	16638916	16638916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:16638916G>A	uc002nei.1	-	8	1354	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	427	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGGAGCCACGGGGTGAGGCTG	0.662000														40			10		0	0	0.000978159	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505115	47505115	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:47505115C>T	uc001cqt.3	+	7	1234	c.984C>T	c.(982-984)atC>atT	p.I328I	CYP4X1_uc001cqr.3_Silent_p.I327I|CYP4X1_uc001cqs.3_Silent_p.I263I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	328						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCCTGGATCCTTTACTGCC	0.517000														34			16		0	0	0.000958276	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585448	70585448	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:70585448G>A	uc003xyl.3	-	9	2910	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SLCO5A1_uc010lzb.3_Missense_Mutation_p.R680C|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	735						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TACACAAAACGAAACGACGTC	0.463000														136			71		0	0	0.000781405	0	0
ANO1	55107	broad.mit.edu	37	11	70007287	70007287	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:70007287C>T	uc001opj.3	+	16	1904	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.I475I|ANO1_uc010rqk.2_Silent_p.I242I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	533					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGTTTGCCATCGTCCTCGGCG	0.632000														26			4		0	0	0.00024832	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504946	151504946	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:151504946G>A	uc003ilw.3	+	0	1870	c.765G>A	c.(763-765)aaG>aaA	p.K255K	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	255					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CAGTGCTGAAGACTCTGCGGG	0.622000														27			11		0	0	0.000978159	0	0
OR1K1	392392	broad.mit.edu	37	9	125563032	125563032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125563032C>T	uc011lze.2	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGTGGTCACTCCCTTCCTGCT	0.637000														49			6		0	0	0.00116845	0	0
C15orf2	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:24921998G>A	uc001ywo.3	+	0	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	328	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R328K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGCAAAAGGAAAATGTCGA	0.587000														48			9		0	0	0.000274275	0	0
OR8H3	390152	broad.mit.edu	37	11	55890127	55890127	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55890127C>T	uc001nii.1	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTATATTTCCTTCACGGGCT	0.423000														206			52		0	0	0.000781405	0	0
FAM159A	348378	broad.mit.edu	37	1	53122470	53122470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:53122470G>A	uc001cuf.3	+	2	431	c.331G>A	c.(331-333)Gag>Aag	p.E111K	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	111						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCCTGAGGAGGTTTCTCC	0.562000														63			20		0	0	0.00229938	0	0
KRT40	125115	broad.mit.edu	37	17	39139319	39139319	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39139319G>T	uc010cxh.1	-	3	670	c.509C>A	c.(508-510)gCc>gAc	p.A170D	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	170	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTCATCAGTGGCCAGTTTGCA	0.353000														167			11		0.00010058	0.000455069	0.00136819	1	0
NOL8	55035	broad.mit.edu	37	9	95077144	95077144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:95077144G>A	uc022bjx.1	-	6	2100	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.S520F	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	588					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCTTTCAAGGATTTTTTCAT	0.378000														25			4		0	0	0.00024832	0	0
HSF1	3297	broad.mit.edu	37	8	145537689	145537689	+	Silent	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:145537689C>A	uc003zbt.4	+	11	1526	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	452	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGGCCTCCCGAGGCAGAGA	0.692000														33			4		0.00116845	0.00522974	0.00116845	1	0
EIF3F	8665	broad.mit.edu	37	11	8014441	8014441	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:8014441A>C	uc001mfw.3	+	3	978	c.523A>C	c.(523-525)Acg>Ccg	p.T175P	EIF3F_uc010rbj.2_Missense_Mutation_p.T26P	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	175	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.T175M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGTACGCTACGGGCCATGA	0.537000														90			6		0	0	0.00116845	0	0
ACACB	32	broad.mit.edu	37	12	109660343	109660343	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:109660343C>T	uc001tob.3	+	24	3715	c.3596C>T	c.(3595-3597)tCg>tTg	p.S1199L	ACACB_uc001toc.3_Missense_Mutation_p.S1199L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1199					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.S1199S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTTCCCTGTCGGACGAGCTG	0.572000														57			5		0	0	0.00198382	0	0
RTL1	388015	broad.mit.edu	37	14	101348154	101348154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:101348154C>T	uc010txj.1	-	0	3031	c.2972G>A	c.(2971-2973)cGa>cAa	p.R991Q	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	991								p.R991Q(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCAGAGCTCGGCCGCCGTC	0.587000														41			5		0	0	0.000602214	0	0
TIMM50	92609	broad.mit.edu	37	19	39976891	39976891	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:39976891C>T	uc002olu.1	+	6	999	c.866C>T	c.(865-867)cCt>cTt	p.P289L	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	186					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTTGCCCCTTTATATGAA	0.547000														232			27		0	0	0.00127121	0	0
MUC16	94025	broad.mit.edu	37	19	9008345	9008345	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9008345C>T	uc002mkp.3	-	41	39411	c.39207_splice	c.e41-1	p.R13069_splice	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13071	SEA 7.				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						CCTTCTCAGACCTGGGGAAGG	0.542000														65			9		0	0	0.000673444	0	0
KIF1A	547	broad.mit.edu	37	2	241727552	241727552	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:241727552G>A	uc010fzk.3	-	3	526	c.279C>T	c.(277-279)atC>atT	p.I93I	KIF1A_uc002vzy.3_Silent_p.I93I|KIF1A_uc002vzz.2_Silent_p.I93I	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	93	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATAGGCGAAGATGCACACGT	0.607000														6			5		0	0	0.000602214	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987855	45987855	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:45987855G>A	uc002zfe.1	-	1	183	c.117C>T	c.(115-117)gtC>gtT	p.V39V	TSPEAR_uc010gpv.1_5'UTR	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	39					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CATCAGAAGGGACCACTTCCG	0.607000														30			9		0	0	0.000673444	0	0
AP3S1	1176	broad.mit.edu	37	5	115238627	115238627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:115238627G>A	uc003krl.3	+	4	507	c.391G>A	c.(391-393)Gag>Aag	p.E131K	AP3S1_uc003krk.3_Missense_Mutation_p.E109K	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	131					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATGGTATTGGAGACAAATAT	0.323000														50			4		0	0	0.000602214	0	0
CDH18	1016	broad.mit.edu	37	5	19473773	19473773	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:19473773G>A	uc003jgd.3	-	12	2469	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Silent_p.I645I|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTCTGAAATGATCAAGGGCT	0.453000														102			31		0	0	0.00058488	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879504	73879504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:73879504G>A	uc011dyh.2	+	11	1908	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	KCNQ5_uc011dyi.2_Missense_Mutation_p.E512K|KCNQ5_uc010kat.3_Missense_Mutation_p.E493K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E502K|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.E252K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	502					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)		TGTATATGATGAAAAAGGATG	0.418000														49			8		0	0	0.000673444	0	0
RGN	9104	broad.mit.edu	37	X	46951461	46951461	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:46951461G>A	uc004dgz.1	+	7	1664	c.695_splice	c.e7-1	p.G232_splice	RGN_uc004dha.1_Splice_Site_p.G232_splice|RGN_uc010nho.1_Splice_Site_p.G179_splice|RGN_uc010nhp.1_Splice_Site_p.G160_splice	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	232					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GTGGTCTAGGGAAAAGACTTC	0.398000														9			4		0	0	0.00024832	0	0
HMCN1	83872	broad.mit.edu	37	1	186088406	186088406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:186088406C>T	uc001grq.1	+	77	12161	c.11932C>T	c.(11932-11934)Cga>Tga	p.R3978*	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3978	Ig-like C2-type 38.				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						CTCTGCACATCGACACGTGAC	0.413000														77			31		0	0	0.000814825	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641401	161641401	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:161641401C>T	uc001gaz.2	+	2	480	c.353C>T	c.(352-354)aCc>aTc	p.T118I	FCGR2B_uc009wum.2_Missense_Mutation_p.T118I|FCGR2B_uc001gay.2_Missense_Mutation_p.T117I|FCGR2B_uc001gba.2_Missense_Mutation_p.T117I|FCGR2B_uc009wun.2_Missense_Mutation_p.T111I|FCGR2B_uc001gbb.2_Missense_Mutation_p.T118I	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	118	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	p.T118I(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGGCCAGACCAGCCTCAGC	0.582000			T	?	ALL									34			4		0	0	0.000602214	0	0
abParts	0	broad.mit.edu	37	14	107087369	107087369	+	Splice_Site	SNP	C	G	G	rs59128688	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:107087369C>G	uc021ser.1	-	127		c.5445_splice	c.e127-1							Parts of antibodies, mostly variable regions.																		ACTCCAAACCCTTTCCTGGAG	0.507000														24			8		0	0	0.000274275	0	0
IGHG1	3500	broad.mit.edu	37	14	106204123	106204123	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:106204123C>T	uc001yse.3	-	6	1220	c.774G>A	c.(772-774)agG>agA	p.R258R	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		CGATCATGTTCCTGTAGTCGG	0.647000														25			7		0	0	0.000157383	0	0
LRRC15	131578	broad.mit.edu	37	3	194081662	194081662	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:194081662C>T	uc003ftt.3	-	2	254	c.129G>A	c.(127-129)gtG>gtA	p.V43V	LRRC15_uc003ftu.3_Silent_p.V37V|LRRC15_uc021xiy.1_Silent_p.V37V	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	37	LRRNT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGGTGCACTCCACCTGGGAGG	0.612000														15			5		0	0	0.000602214	0	0
HHATL	57467	broad.mit.edu	37	3	42734673	42734673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:42734673G>A	uc003clw.3	-	11	1433	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	HHATL_uc003clx.3_Missense_Mutation_p.A429V	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	429					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCCAAACAGGGCCCGGACCCT	0.577000														101			7		0	0	0.000157383	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282437	73282437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:73282437C>T	uc002jns.4	-	1	1146	c.236G>A	c.(235-237)tGg>tAg	p.W79*	SLC25A19_uc010dge.3_Nonsense_Mutation_p.W79*|SLC25A19_uc002jnv.4_Nonsense_Mutation_p.W79*|SLC25A19_uc002jnu.4_Nonsense_Mutation_p.W79*|SLC25A19_uc002jnw.4_Nonsense_Mutation_p.W79*|SLC25A19_uc002jnt.4_Nonsense_Mutation_p.W79*	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	79						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GTGTCCTTTCCAGAAAGCTGT	0.587000														72			11		0	0	0.000673444	0	0
NBEA	26960	broad.mit.edu	37	13	36229105	36229105	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:36229105G>A	uc021rid.1	+	52	8620	c.8086G>A	c.(8086-8088)Gga>Aga	p.G2696R	NBEA_uc021ric.1_Missense_Mutation_p.G2693R|NBEA_uc010abi.3_Missense_Mutation_p.G1352R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G489R|NBEA_uc001uvd.3_Missense_Mutation_p.G274R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2696						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTTATCTGTGGATTCTGGGA	0.358000														18			5		0	0	0.00198382	0	0
FSIP2	401024	broad.mit.edu	37	2	186670793	186670793	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:186670793C>T	uc002upl.3	+	16	17027	c.17027C>T	c.(17026-17028)tCa>tTa	p.S5676L	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACACATTTTTCATTAATAATT	0.274000														68			9		0	0	0.000442599	0	0
NWD1	284434	broad.mit.edu	37	19	16910778	16910778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:16910778G>A	uc002neu.4	+	16	3963	c.3541G>A	c.(3541-3543)Ggg>Agg	p.G1181R	NWD1_uc002net.4_Missense_Mutation_p.G1046R|NWD1_uc002nev.4_Missense_Mutation_p.G975R|NWD1_uc021uqg.1_Missense_Mutation_p.G1046R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1181							ATP binding	p.G1046R(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCCCGCGGCGGGGCTTTGGT	0.622000														45			4		0	0	0.00116845	0	0
PDZD2	23037	broad.mit.edu	37	5	32053902	32053902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:32053902C>T	uc003jhl.3	+	9	2201	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	PDZD2_uc003jhm.3_Nonsense_Mutation_p.R605*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.R431*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	605	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						TGCTGGAGGTCGAGACTGCAT	0.483000														107			7		0	0	0.000157383	0	0
SMARCD1	6602	broad.mit.edu	37	12	50492783	50492783	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:50492783G>A	uc001rvx.4	+	12	1718	c.1548G>A	c.(1546-1548)taG>taA	p.*516*	SMARCD1_uc001rvy.4_Silent_p.*475*|SMARCD1_uc009zlp.3_Silent_p.*475*	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	0					chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GGAATACATAGGGCCTCTCCC	0.517000														44			6		0	0	0.00116845	0	0
SLC6A12	6539	broad.mit.edu	37	12	307164	307164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:307164C>T	uc001qhz.3	-	9	1516	c.852G>A	c.(850-852)tgG>tgA	p.W284*	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Nonsense_Mutation_p.W284*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.W284*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.W284*	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	284					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)			CCGCATCCATCCACACCTACA	0.592000														40			5		0	0	0.000602214	0	0
FBXO43	286151	broad.mit.edu	37	8	101153270	101153270	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:101153270G>A	uc003yjd.3	-	1	1948	c.1212C>T	c.(1210-1212)caC>caT	p.H404H	FBXO43_uc003yje.3_Silent_p.H370H|FBXO43_uc010mbp.2_Silent_p.H404H	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	404					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAGTCAGGGTGGACAATCT	0.468000														134			20		0	0	0.00229938	0	0
CHGB	1114	broad.mit.edu	37	20	5904399	5904399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:5904399G>A	uc002wmg.3	+	3	1915	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	CHGB_uc010zqz.2_Missense_Mutation_p.E220K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	537						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGCCATTTTGAAAGAAGAGA	0.428000														36			21		0	0	0.00188189	0	0
FUBP3	8939	broad.mit.edu	37	9	133495798	133495798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:133495798G>A	uc004bzr.1	+	8	832	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	FUBP3_uc010mzd.1_Missense_Mutation_p.G182S	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	242					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding	p.R241L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGACTTTCGGGGTGTACGCGG	0.408000														83			16		0	0	0.000422831	0	0
ENAM	10117	broad.mit.edu	37	4	71500038	71500038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:71500038G>A	uc011caw.1	+	5	505	c.224G>A	c.(223-225)gGg>gAg	p.G75E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	75					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCACACCTGGGGCCCTTCTTT	0.493000														190			26		0	0	0.001512	0	0
SALL1	6299	broad.mit.edu	37	16	51171260	51171260	+	Silent	SNP	C	T	T	rs145953478		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:51171260C>T	uc021tif.1	-	2	3769	c.3447G>A	c.(3445-3447)gcG>gcA	p.A1149A	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.A98A	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1246					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCCTTCATCGCCAGCCCGT	0.562000														41			5		0	0	0.000602214	0	0
ZNF280C	55609	broad.mit.edu	37	X	129364502	129364502	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:129364502A>G	uc004evm.3	-	8	1174	c.971T>C	c.(970-972)gTt>gCt	p.V324A	ZNF280C_uc010nrf.2_Missense_Mutation_p.V324A	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATTTTTAAGAACTTTCGAGCA	0.308000														25			21		0	0	0.00121646	0	0
ZNF534	147658	broad.mit.edu	37	19	52941472	52941472	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:52941472G>A	uc002pzk.3	+	3	865	c.798G>A	c.(796-798)caG>caA	p.Q266Q	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.Q253Q	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTCAATCAGAATTCACACC	0.383000														39			5		0	0	0.000602214	0	0
MCTP2	55784	broad.mit.edu	37	15	94883438	94883438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:94883438G>A	uc002btj.3	+	4	856	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MCTP2_uc010urg.1_Missense_Mutation_p.R264Q|MCTP2_uc002bti.2_Missense_Mutation_p.R264Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R264Q|MCTP2_uc002btg.4_Missense_Mutation_p.R264Q|MCTP2_uc002bth.4_Missense_Mutation_p.R264Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	264	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTATATGATCGAGATTTAACC	0.318000														109			25		0	0	0.000586117	0	0
DLG2	1740	broad.mit.edu	37	11	83691581	83691581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:83691581C>T	uc001paj.2	-	6	1012	c.709G>A	c.(709-711)Gga>Aga	p.G237R	DLG2_uc001pai.2_Missense_Mutation_p.G186R|DLG2_uc010rsy.1_Missense_Mutation_p.G204R|DLG2_uc021qof.1_Missense_Mutation_p.G276R|DLG2_uc010rsz.1_Missense_Mutation_p.G237R|DLG2_uc010rta.1_Missense_Mutation_p.G237R|DLG2_uc001pak.2_Missense_Mutation_p.G342R|DLG2_uc010rtb.1_Missense_Mutation_p.G204R|DLG2_uc001pal.1_Missense_Mutation_p.G237R|DLG2_uc001pam.2_Missense_Mutation_p.G276R	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	237	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGCAACCTTCCATCTTTTTGT	0.408000														57			6		0	0	0.00116845	0	0
KRT6C	286887	broad.mit.edu	37	12	52863467	52863467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:52863467C>T	uc001sal.4	-	6	1459	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	471	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACTCCTCGCCCTCCAGCAGC	0.577000														54			7		0	0	0.000274275	0	0
SCN9A	6335	broad.mit.edu	37	2	167133823	167133823	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:167133823G>A	uc010fpl.3	-	15	2852	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	848						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGTTGGCCAGGATTTTGCCA	0.368000														38			7		0	0	0.000157383	0	0
P2RY10	27334	broad.mit.edu	37	X	78216281	78216281	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:78216281C>T	uc022bzl.1	+	0	264	c.264C>T	c.(262-264)ccC>ccT	p.P88P	P2RY10_uc004ede.3_Silent_p.P88P|P2RY10_uc004edf.3_Silent_p.P88P	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	88						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATCTTTACCCCTCCGGATTT	0.458000														43			22		0	0	0.00229938	0	0
CYLC2	1539	broad.mit.edu	37	9	105767288	105767288	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:105767288G>A	uc004bbs.2	+	4	445	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	125	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAACACAGAAGGACACAACAG	0.308000														48			11		0	0	0.00136819	0	0
ST5	6764	broad.mit.edu	37	11	8747751	8747751	+	Missense_Mutation	SNP	G	A	A	rs141549433		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:8747751G>A	uc001mgt.3	-	3	1532	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	ST5_uc009yfr.3_Missense_Mutation_p.S29F|ST5_uc001mgu.3_Missense_Mutation_p.S29F|ST5_uc001mgv.3_Missense_Mutation_p.S449F|ST5_uc010rbq.1_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	449					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAACTCAAAGGATTTTCTGTG	0.488000														52			17		0	0	0.000958276	0	0
OR5H6	79295	broad.mit.edu	37	3	97983956	97983956	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:97983956G>A	uc003dsi.1	+	0	828	c.828G>A	c.(826-828)ctG>ctA	p.L276L		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATATCTGGGCTCTGCAT	0.423000														25			8		0	0	0.000157383	0	0
ARAP2	116984	broad.mit.edu	37	4	36163141	36163141	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:36163141G>A	uc003gsq.2	-	11	2543	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	ARAP2_uc003gsr.1_Silent_p.S735S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	735	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTAACCTTGGAATCTTTTG	0.348000														48			8		0	0	0.000274275	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475680	42475680	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:42475680G>A	uc002igw.2	-	7	3984	c.3765C>T	c.(3763-3765)tcC>tcT	p.S1255S	GPATCH8_uc002igv.2_Silent_p.S1177S|GPATCH8_uc010wiz.2_Silent_p.S1177S	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1255						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCTATCCAGGGACTCCAGGG	0.597000														115			16		0	0	0.000566183	0	0
KCNA6	3742	broad.mit.edu	37	12	4919974	4919974	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:4919974G>A	uc001qng.3	+	0	1633	c.767G>A	c.(766-768)gGc>gAc	p.G256D	KCNA6_uc021qtr.1_Missense_Mutation_p.G256D	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G255G(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACTCTTGGGGGCTCCTTCTTT	0.562000										HNSCC(72;0.22)				77			12		0	0	0.000978159	0	0
PTPRN	5798	broad.mit.edu	37	2	220167204	220167204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:220167204G>A	uc002vkz.3	-	5	890	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	PTPRN_uc010zlc.2_Missense_Mutation_p.R127C|PTPRN_uc002vla.3_Missense_Mutation_p.R217C	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	217					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGCCATCACGGGAGCCAAAC	0.617000														46			9		0	0	0.000442599	0	0
OR2M3	127062	broad.mit.edu	37	1	248367019	248367019	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:248367019C>T	uc010pzg.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCATTGCTTCCTATGCTCGA	0.423000														137			34		0	0	0.00148497	0	0
CACNA1A	773	broad.mit.edu	37	19	13445289	13445289	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:13445289C>T	uc002mwy.3	-	7	1337	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	CACNA1A_uc010xnd.2_Silent_p.R367R|CACNA1A_uc021ups.1_Silent_p.R367R|CACNA1A_uc010xne.2_Silent_p.R367R|CACNA1A_uc010dze.2_Silent_p.R367R|CACNA1A_uc021upt.1_Silent_p.R367R	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	367					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCACCCGTTCCCTTTCTTTGG	0.483000														46			10		0	0	0.000673444	0	0
OR10H5	284433	broad.mit.edu	37	19	15904951	15904951	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:15904951C>T	uc010xos.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTGCTGTTCCTGCTGATGT	0.587000														120			11		0	0	0.000978159	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309887	178309887	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:178309887C>T	uc003mjl.3	+	4	660	c.434C>T	c.(433-435)tCa>tTa	p.S145L	ZNF354B_uc003mjm.3_Missense_Mutation_p.S145L	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAATAATTTCAGTTGCCCAT	0.328000														31			7		0	0	0.00198382	0	0
FCGBP	8857	broad.mit.edu	37	19	40405988	40405988	+	Nonsense_Mutation	SNP	G	A	A	rs144236712		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:40405988G>A	uc002omp.4	-	9	4866	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1620	Cys-rich.					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)			CTGTGTTCCTGGCACACCATG	0.637000														23			6		0	0	0.00116845	0	0
MIR1246	100302142	broad.mit.edu	37	2	177465766	177465766	+	RNA	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:177465766C>T	uc021vss.1	-	0		c.15G>A								Homo sapiens microRNA 1246 (MIR1246), microRNA.																		ctccaaAAATCCATTCAAGGA	0.408000														115			24		0	0	0.000586117	0	0
OR10A5	144124	broad.mit.edu	37	11	6867544	6867544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6867544C>T	uc001met.1	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	211					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)		GGTCATGATCCCCTGCTTGCT	0.517000														103			32		0	0	0.000692331	0	0
DNAH7	56171	broad.mit.edu	37	2	196753050	196753050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:196753050C>T	uc002utj.4	-	32	5439	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1780	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K1779N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTATGAATTCCTTTTGAATA	0.383000														37			12		0	0	0.000978159	0	0
VPS13D	55187	broad.mit.edu	37	1	12353695	12353695	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:12353695C>T	uc001atv.3	+	23	6108	c.5967C>T	c.(5965-5967)ttC>ttT	p.F1989F	VPS13D_uc001atw.3_Silent_p.F1989F|VPS13D_uc001atx.3_Silent_p.F1177F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1989					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGTGGCCTTCATTCAGCATT	0.582000														54			14		0	0	0.000566183	0	0
OR51T1	401665	broad.mit.edu	37	11	4903473	4903473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:4903473C>T	uc010qyp.2	+	0	425	c.425C>T	c.(424-426)tCg>tTg	p.S142L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGAGTCCTCGGTGCTGGTA	0.502000														63			16		0	0	0.00074312	0	0
THSD7B	80731	broad.mit.edu	37	2	137990496	137990496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:137990496C>T	uc002tva.1	+	7	1850	c.1850C>T	c.(1849-1851)gCt>gTt	p.A617V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.A507V	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTAGTCAGGCTCTCCAAGAG	0.458000														29			9		0	0	0.000442599	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664900	41664900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:41664900C>T	uc003gvz.4	+	19	3607	c.3190C>T	c.(3190-3192)Ccc>Tcc	p.P1064S	LIMCH1_uc003gwe.4_Missense_Mutation_p.P679S|LIMCH1_uc003gvu.4_Missense_Mutation_p.P679S|LIMCH1_uc003gvv.4_Missense_Mutation_p.P679S|LIMCH1_uc003gvw.4_Missense_Mutation_p.P679S|LIMCH1_uc003gvx.4_Missense_Mutation_p.P667S|LIMCH1_uc003gvy.4_Missense_Mutation_p.P508S|LIMCH1_uc003gwa.4_Missense_Mutation_p.P520S|LIMCH1_uc011byu.2_Missense_Mutation_p.P513S|LIMCH1_uc003gwc.4_Missense_Mutation_p.P525S|LIMCH1_uc003gwd.4_Missense_Mutation_p.P513S|LIMCH1_uc011byv.2_Missense_Mutation_p.P430S|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	679	LIM zinc-binding.				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						TGTGGAATTTCCCTCCAGCCC	0.463000														42			7		0	0	0.00198382	0	0
KIAA1257	57501	broad.mit.edu	37	3	128697005	128697005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:128697005G>A	uc003elj.4	-	4	887	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	KIAA1257_uc003elg.1_Nonsense_Mutation_p.Q231*|KIAA1257_uc003eli.4_Nonsense_Mutation_p.Q119*	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	231										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AATTTTCTCTGATTTAAAACC	0.353000														80			20		0	0	0.00188189	0	0
SLC26A5	375611	broad.mit.edu	37	7	103053510	103053510	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:103053510G>A	uc003vbz.3	-	4	604	c.342C>T	c.(340-342)taC>taT	p.Y114Y	SLC26A5_uc003vbt.2_Silent_p.Y114Y|SLC26A5_uc003vbu.2_Silent_p.Y114Y|SLC26A5_uc003vbv.2_Silent_p.Y114Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.Y114Y	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	114					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAAATGAAGAGTACAGGCCAA	0.398000														45			6		0	0	0.00198382	0	0
ASTN1	460	broad.mit.edu	37	1	176857294	176857294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:176857294C>T	uc001glc.3	-	17	3199	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	ASTN1_uc001glb.1_Missense_Mutation_p.G996E|ASTN1_uc001gld.1_Missense_Mutation_p.G996E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1004					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGACATCTCCAGTCCCTGA	0.542000														40			10		0	0	0.000442599	0	0
ADCK2	90956	broad.mit.edu	37	7	140374464	140374464	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:140374464G>A	uc003vvy.1	+	1	1165	c.987G>A	c.(985-987)aaG>aaA	p.K329K	ADCK2_uc003vvz.3_Silent_p.K329K	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	329	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGCTGATGAAGATTGGCAGCC	0.532000														39			18		0	0	0.00074312	0	0
FRAS1	80144	broad.mit.edu	37	4	79205629	79205629	+	Silent	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:79205629C>A	uc003hlb.2	+	12	1766	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	FRAS1_uc003hkw.3_Silent_p.T442T|FRAS1_uc003hky.1_Silent_p.T146T|FRAS1_uc003hkz.3_Silent_p.T146T|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	442					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGATCCTACCAAGTTACTGC	0.488000														186			7		0.000442599	0.00199709	0.000442599	1	0
C15orf2	23742	broad.mit.edu	37	15	24921893	24921893	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:24921893G>A	uc001ywo.3	+	0	1353	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	293	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P293P(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TAGGCTTGCCGATTCCGCTGA	0.622000														56			16		0	0	0.000958276	0	0
GRM8	2918	broad.mit.edu	37	7	126086222	126086222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:126086222C>T	uc003vlr.2	-	8	2946	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G879S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	879					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCACCTCGCCATTTGGTCTG	0.448000										HNSCC(24;0.065)				70			22		0	0	0.00188189	0	0
BNC1	646	broad.mit.edu	37	15	83932596	83932596	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:83932596G>A	uc002bjt.1	-	3	1495	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	BNC1_uc010uos.1_Silent_p.F457F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	469					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						CAATGTTTGGGAAGGCTGGTT	0.547000														43			15		0	0	0.00244969	0	0
LRTM2	654429	broad.mit.edu	37	12	1943855	1943855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:1943855G>A	uc001qjt.2	+	4	1887	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.E361K|LRTM2_uc010sdx.1_Missense_Mutation_p.E361K|LRTM2_uc001qjv.2_Missense_Mutation_p.E123K	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	361						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGCGAGCACGAGGACCAGAA	0.662000														33			5		0	0	0.00198382	0	0
AZI2	64343	broad.mit.edu	37	3	28382035	28382035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:28382035G>A	uc003ceb.3	-	1	606	c.74C>T	c.(73-75)cCa>cTa	p.P25L	AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Missense_Mutation_p.P25L|AZI2_uc011axd.1_Missense_Mutation_p.P25L|AZI2_uc003ceg.2_Missense_Mutation_p.P25L	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	25						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TATTGAAACTGGAGTCACTGT	0.348000														51			21		0	0	0.00188189	0	0
GPR137C	283554	broad.mit.edu	37	14	53099010	53099010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:53099010G>A	uc001wzt.4	+	4	898	c.898G>A	c.(898-900)Gat>Aat	p.D300N	GPR137C_uc001wzu.4_Missense_Mutation_p.D284N	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	284						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTATGGCTGGGATAATCTTTC	0.368000														64			10		0	0	0.000978159	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573298	140573298	+	Silent	SNP	C	T	T	rs139481353		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140573298C>T	uc003lix.3	+	0	1347	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	391	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGCCATTCCTACTAAAAC	0.433000														31			5		0	0	0.000602214	0	0
OR6V1	346517	broad.mit.edu	37	7	142749551	142749551	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:142749551G>A	uc011ksv.2	+	0	114	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	38					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)					TCGCCTTCATGGGAAACACCA	0.502000														232			18		0	0	0.000566183	0	0
MAT1A	4143	broad.mit.edu	37	10	82045326	82045326	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:82045326G>A	uc001kbw.3	-	1	366	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	37					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCATCACTGATCTGGTCAC	0.448000														37			6		0	0	0.00198382	0	0
INHBB	3625	broad.mit.edu	37	2	121107048	121107048	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:121107048C>T	uc002tmn.2	+	1	868	c.822C>T	c.(820-822)ccC>ccT	p.P274P		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	274					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGCACCGGCCCTTTGTGGTGG	0.667000														75			13		0	0	0.00136819	0	0
TMEM132B	114795	broad.mit.edu	37	12	126003993	126003993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:126003993G>A	uc001uhe.1	+	3	1108	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	TMEM132B_uc021rgl.1_Missense_Mutation_p.G257E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	367						integral to membrane		p.G367R(1)		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)		AGGGTAAATGGATCCTTCTAT	0.413000														79			8		0	0	0.000442599	0	0
THSD7B	80731	broad.mit.edu	37	2	137990559	137990559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:137990559C>T	uc002tva.1	+	7	1913	c.1913C>T	c.(1912-1914)cCt>cTt	p.P638L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P528L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGACATCGCCTTGGGGCCCT	0.517000														36			6		0	0	0.00116845	0	0
PAK7	57144	broad.mit.edu	37	20	9624791	9624791	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:9624791G>A	uc002wnl.2	-	3	731	c.186C>T	c.(184-186)atC>atT	p.I62I	PAK7_uc002wnk.2_Silent_p.I62I|PAK7_uc002wnj.2_Silent_p.I62I|PAK7_uc010gby.1_Silent_p.I62I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	62	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCCAGCTGGATGGGTGTGA	0.507000														49			16		0	0	0.000422831	0	0
SLC6A14	11254	broad.mit.edu	37	X	115577962	115577962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:115577962G>A	uc004eqi.3	+	6	976	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	282					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)	CTGTTAGTACGAGGTGCAACT	0.363000														41			27		0	0	0.00178596	0	0
FKBP6	8468	broad.mit.edu	37	7	72755321	72755321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:72755321G>A	uc003tya.2	+	6	965	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	FKBP6_uc003twz.2_Missense_Mutation_p.R248Q|FKBP6_uc011kew.1_Missense_Mutation_p.R273Q|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	278					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R278*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTCTAGTTCGAGCCCAGAAG	0.458000														155			12		0	0	0.00185496	0	0
C2CD3	26005	broad.mit.edu	37	11	73804914	73804914	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:73804914G>A	uc001ouu.2	-	17	3518	c.3291C>T	c.(3289-3291)ttC>ttT	p.F1097F		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1097						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGTGCAGAGAAAGCACTTA	0.522000														25			5		0	0	0.000602214	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331977	17331977	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:17331977G>A	uc001baa.2	-	2	370	c.180C>T	c.(178-180)atC>atT	p.I60I	ATP13A2_uc001bac.2_Silent_p.I60I|ATP13A2_uc001bab.2_Silent_p.I60I	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	60					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCAGCAAAGGGATCCCAGCCA	0.627000														12			12		0	0	0.00185496	0	0
TLR5	7100	broad.mit.edu	37	1	223286174	223286174	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:223286174G>A	uc021pjl.1	-	0	200	c.200C>T	c.(199-201)cCc>cTc	p.P67L	TLR5_uc001hnv.2_Missense_Mutation_p.P67L|TLR5_uc001hnw.2_Missense_Mutation_p.P67L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	67					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTCCAGAAAGGGGAAGGATGA	0.542000														57			11		0	0	0.000673444	0	0
SPOPL	339745	broad.mit.edu	37	2	139326535	139326535	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:139326535G>T	uc002tvh.3	+	10	1464	c.1064G>T	c.(1063-1065)gGg>gTg	p.G355V		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	355						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAACATCAGGGTGGAAGTCC	0.398000														225			30		9.78306e-22	4.51213e-21	0.00178596	1	0
TRAK1	22906	broad.mit.edu	37	3	42264731	42264731	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:42264731G>A	uc003cky.3	+	15	2580	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	TRAK1_uc011azi.2_Silent_p.Q767Q	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	788					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGCCTATGCAGACACCCACAT	0.627000														25			4		0	0	0.000602214	0	0
SMARCA5	8467	broad.mit.edu	37	4	144468576	144468576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:144468576G>A	uc003ijg.3	+	20	3154	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAGGACATAGAGAAGATTAT	0.338000														48			10		0	0	0.000978159	0	0
CCDC129	223075	broad.mit.edu	37	7	31617900	31617900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:31617900C>T	uc011kae.2	+	7	1112	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	CCDC129_uc011kad.1_Missense_Mutation_p.S351F|CCDC129_uc003tcj.1_Missense_Mutation_p.S341F|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.S249F	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	341										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTTGCTCATCTATGCCGGCC	0.498000														48			6		0	0	0.00116845	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672553	44672553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:44672553G>A	uc010zxl.1	+	10	1520	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G459R	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	482					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCATTGAGGGGGTCGTCCT	0.562000														116			6		0	0	0.00198382	0	0
NLRP8	126205	broad.mit.edu	37	19	56467445	56467445	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56467445C>A	uc002qmh.3	+	2	2092	c.2021C>A	c.(2020-2022)tCc>tAc	p.S674Y	NLRP8_uc010etg.3_Missense_Mutation_p.S674Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	674						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGCTCAGCTCCAGCTCCCAT	0.552000														45			14		2.48551e-13	1.13691e-12	0.000566183	1	0
CD36	948	broad.mit.edu	37	7	80302686	80302686	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:80302686G>A	uc003uhc.3	+	15	1899	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	CD36_uc011kgv.2_Silent_p.L329L|CD36_uc003uhd.4_Silent_p.L405L|CD36_uc003uhe.4_Silent_p.L405L|CD36_uc003uhf.4_Silent_p.L405L|CD36_uc003uhg.4_Silent_p.L405L|CD36_uc003uhh.4_Silent_p.L405L|CD36_uc022agu.1_Silent_p.L366L|CD36_uc022agv.1_Silent_p.L345L	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	405					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAAGAATCTGAAGAGGAACT	0.249000														92			8		0	0	0.000274275	0	0
DLGAP2	9228	broad.mit.edu	37	8	1639759	1639759	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:1639759C>T	uc003wpl.3	+	9	2620	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F	DLGAP2_uc003wpm.3_Silent_p.F827F	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	920					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)		CCCAGAAATTCCAGCAGTTTT	0.408000														26			7		0	0	0.000274275	0	0
KRT16	3868	broad.mit.edu	37	17	39768659	39768659	+	Silent	SNP	G	A	A	rs150457351		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39768659G>A	uc002hxg.4	-	0	421	c.282C>T	c.(280-282)ttC>ttT	p.F94F	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.F94F	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	94	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				agccaccaccgaagccagcac	0.627000														21			7		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214183	140214183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140214183G>A	uc003lhq.2	+	0	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.G72E	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCCGTGGGGATCTTCTG	0.617000														108			45		0	0	0.000680045	0	0
IFNA5	3442	broad.mit.edu	37	9	21305122	21305122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:21305122C>T	uc011lnh.2	-	0	191	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	45					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			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTCTTCCCATTTGTGC	0.493000														73			14		0	0	0.00185496	0	0
CCDC62	84660	broad.mit.edu	37	12	123297851	123297851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:123297851C>T	uc001udc.3	+	10	2048	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.S390L|CCDC62_uc021rfn.1_Missense_Mutation_p.S444L	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	629						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GATGATTTCTCGCCCACGAGC	0.493000														69			14		0	0	0.00244969	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395820	38395820	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:38395820C>T	uc022bgy.1	+	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L	ALDH1B1_uc004aay.3_Silent_p.L25L	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	25					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAGCAGCCCTCCCAAGCCCCA	0.592000														39			9		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9068151	9068151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9068151G>A	uc002mkp.3	-	2	19499	c.19295C>T	c.(19294-19296)tCt>tTt	p.S6432F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6434	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						AGCAAAAGTAGAAAGCATGGT	0.507000														93			13		0	0	0.00136819	0	0
EPHA6	285220	broad.mit.edu	37	3	97439220	97439220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:97439220G>A	uc010how.1	+	14	2943	c.2900G>A	c.(2899-2901)gGa>gAa	p.G967E	EPHA6_uc003drt.3_Missense_Mutation_p.G359E|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	872	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGTCCTATGGAGAGAGACCT	0.448000														52			19		0	0	0.00121646	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218686	8218686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:8218686C>T	uc003gkv.4	+	6	732	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	SH3TC1_uc003gkw.4_Missense_Mutation_p.P135S|SH3TC1_uc003gkx.4_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	211							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						TTTTGAAGGGCCCTTCTTTGT	0.652000														31			7		0	0	0.000157383	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														43			6		0	0	0.000442599	0	0
TRPV2	51393	broad.mit.edu	37	17	16335507	16335507	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:16335507G>C	uc002gpy.3	+	11	2281	c.1882G>C	c.(1882-1884)Gcc>Ccc	p.A628P	TRPV2_uc002gpz.3_Missense_Mutation_p.A198P	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	628					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCTGCTGCTGGCCTACGTGCT	0.597000														46			6		0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38951099	38951099	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:38951099C>T	uc002oit.3	+	19	2575	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	RYR1_uc002oiu.3_Silent_p.L815L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	815					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCTGTGCTCCCTCGAGAGC	0.637000														77			14		0	0	0.00244969	0	0
RTDR1	27156	broad.mit.edu	37	22	23476223	23476223	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:23476223C>T	uc002zwt.3	-	3	569	c.411G>A	c.(409-411)caG>caA	p.Q137Q	RTDR1_uc010gtv.1_Silent_p.Q137Q	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	137							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCTAGGCACCTGGACCAGCT	0.572000														31			5		0	0	0.00116845	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442221	75442221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:75442221G>A	uc010rru.2	+	5	895	c.895G>A	c.(895-897)Gag>Aag	p.E299K	MOGAT2_uc010rrv.2_Missense_Mutation_p.E217K	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	299					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCCCTCGGAGGAGGAGGTGAA	0.567000														48			10		0	0	0.00185496	0	0
KCNH5	27133	broad.mit.edu	37	14	63174645	63174645	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:63174645C>T	uc001xfx.3	-	10	2599	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	850					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACACTGTTCTCTGAATCACTG	0.448000														87			16		0	0	0.00074312	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918128	48918128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:48918128C>T	uc002pjc.4	+	5	1508	c.1420C>T	c.(1420-1422)Ccg>Tcg	p.P474S		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	474						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAGCCCTCCACCGGATGCCCC	0.607000														55			5		0	0	0.00198382	0	0
PLBD1	79887	broad.mit.edu	37	12	14689527	14689527	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:14689527C>T	uc001rcc.1	-	4	837	c.676G>A	c.(676-678)Gga>Aga	p.G226R		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	226					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCAATGTCCCATGTCCCAT	0.428000														50			8		0	0	0.000274275	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187773	42187773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:42187773C>T	uc002ori.1	-	2	651	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CEACAM7_uc010ehx.2_Missense_Mutation_p.E217K|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	217	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTCTGTATTTCACATTCATAG	0.557000														110			14		0	0	0.000308642	0	0
SYT14	255928	broad.mit.edu	37	1	210273574	210273574	+	Missense_Mutation	SNP	G	A	A	rs140554266		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:210273574G>A	uc001hhs.4	+	6	1125	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	SYT14_uc001hht.4_Missense_Mutation_p.R311K|SYT14_uc010psn.2_Missense_Mutation_p.R356K|SYT14_uc001hhu.4_Intron|SYT14_uc010pso.2_Missense_Mutation_p.R273K|SYT14_uc009xcv.3_Missense_Mutation_p.R311K	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	311	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGAAACAGAGAGCAAAAACC	0.418000														21			6		0	0	0.00116845	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621238	38621238	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:38621238T>C	uc002ohk.3	+	9	3478	c.2969T>C	c.(2968-2970)gTt>gCt	p.V990A		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	990	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCCGAGGTTGAGGACTAT	0.657000														64			6		0	0	0.00116845	0	0
ABCC12	94160	broad.mit.edu	37	16	48138108	48138108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:48138108G>A	uc002efc.1	-	19	3191	c.2845C>T	c.(2845-2847)Cct>Tct	p.P949S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	949	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGACAGCAGGAAACACAGCA	0.478000														68			10		0	0	0.000442599	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465507	79465507	+	Silent	SNP	C	T	T	rs142442874	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:79465507C>T	uc010mpk.3	-	2	340	c.216G>A	c.(214-216)acG>acA	p.T72T	PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Silent_p.T72T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	72					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATAAACCTCGTCTCGGTGA	0.388000														135			15		0	0	0.000958276	0	0
KCNE2	9992	broad.mit.edu	37	21	35743057	35743057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:35743057G>A	uc021wis.1	+	0	280	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	KCNE2_uc002ytt.1_Missense_Mutation_p.E94K	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	94					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						GGACTGGCAGGAAAAGTACAA	0.493000														247			74		0	0	0.000781405	0	0
GCK	2645	broad.mit.edu	37	7	44189389	44189389	+	Missense_Mutation	SNP	C	T	T	rs147065275		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:44189389C>T	uc003tkl.2	-	5	1119	c.649G>A	c.(649-651)Gac>Aac	p.D217N	GCK_uc003tkj.1_Missense_Mutation_p.D216N|GCK_uc003tkk.1_Missense_Mutation_p.D218N	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	217					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						CACTGATGGTCTTCGTAGTAG	0.567000														271			100		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179449972	179449972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:179449972C>T	uc021vsy.1	-	257	57020	c.56795G>A	c.(56794-56796)tGg>tAg	p.W18932*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W12627*|TTN_uc021vta.1_Nonsense_Mutation_p.W12560*|TTN_uc021vtb.1_Nonsense_Mutation_p.W12435*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19859	Fibronectin type-III 37.						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)			TCCTTTTTTCCATTTACAGGT	0.428000														133			19		0	0	0.00074312	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679737	25679737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:25679737G>A	uc010sji.1	-	4	889	c.644C>T	c.(643-645)cCa>cTa	p.P215L	IFLTD1_uc001rgt.1_Missense_Mutation_p.P97L|IFLTD1_uc001rgs.2_Missense_Mutation_p.P194L|IFLTD1_uc010sjj.2_Missense_Mutation_p.P131L|IFLTD1_uc009zjc.2_Missense_Mutation_p.P215L	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	194						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TACGATGTTTGGAAGGAATCG	0.368000														55			9		0	0	0.000673444	0	0
SERPINA3	12	broad.mit.edu	37	14	95088730	95088730	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:95088730C>T	uc001ydp.3	+	3	1129	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	SERPINA3_uc001ydo.4_Silent_p.L349L|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.L324L|SERPINA3_uc001yds.3_Silent_p.L324L	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	324					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACTATAACCTGAACGACAT	0.498000														51			8		0	0	0.000673444	0	0
HYDIN	54768	broad.mit.edu	37	16	70955005	70955005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:70955005C>T	uc002ezr.3	-	45	7422	c.7271G>A	c.(7270-7272)gGc>gAc	p.G2424D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2425										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTGACATCGCCCATGTTCCT	0.463000														81			6		0	0	0.00185496	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483833	102483833	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:102483833C>T	uc001yks.2	+	39	8333	c.8169C>T	c.(8167-8169)ctC>ctT	p.L2723L	DYNC1H1_uc001ykt.1_Silent_p.L214L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2723	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAAGCCCCTCTCACACAGGT	0.498000														58			15		0	0	0.000308642	0	0
NLRP4	147945	broad.mit.edu	37	19	56382302	56382302	+	Missense_Mutation	SNP	G	A	A	rs140263319	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56382302G>A	uc002qmd.4	+	6	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_uc002qmf.3_Missense_Mutation_p.E747K|NLRP4_uc010etf.3_Missense_Mutation_p.E597K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	822							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)		CCTGAAGGACGAAGGACTGAA	0.512000														70			7		0	0	0.000442599	0	0
FUT8	2530	broad.mit.edu	37	14	66208871	66208871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:66208871C>T	uc001xin.3	+	10	3198	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y	FUT8_uc001xio.3_Missense_Mutation_p.H491Y|FUT8_uc010tsp.2_Missense_Mutation_p.H328Y|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.H491Y|FUT8_uc001xiq.3_Missense_Mutation_p.H362Y|FUT8_uc021ruy.1_Missense_Mutation_p.H362Y	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	491					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAACTTCCATTCTTTAGA	0.388000														49			13		0	0	0.00244969	0	0
ARSJ	79642	broad.mit.edu	37	4	114824400	114824400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:114824400C>T	uc003ibq.1	-	1	1718	c.830G>A	c.(829-831)aGg>aAg	p.R277K	ARSJ_uc010imu.1_Missense_Mutation_p.R277K|ARSJ_uc010imv.1_Missense_Mutation_p.R105K	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	277						extracellular region	arylsulfatase activity|metal ion binding	p.R277K(2)|p.R277M(2)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCGAAATACCTGCCAGGAGC	0.423000														63			5		0	0	0.000602214	0	0
COL7A1	1294	broad.mit.edu	37	3	48629399	48629399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:48629399G>A	uc003ctz.2	-	9	1290	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	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														78			20		0	0	0.00278032	0	0
C14orf159	80017	broad.mit.edu	37	14	91639672	91639672	+	Missense_Mutation	SNP	C	T	T	rs148167595	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:91639672C>T	uc001xyw.2	+	5	848	c.496C>T	c.(496-498)Cct>Tct	p.P166S	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P166S|C14orf159_uc001xyz.2_Missense_Mutation_p.P37S|C14orf159_uc001xzb.2_Missense_Mutation_p.P161S|C14orf159_uc001xyx.2_Missense_Mutation_p.P161S|C14orf159_uc001xzc.2_Missense_Mutation_p.P161S|C14orf159_uc001xza.2_Missense_Mutation_p.P166S|C14orf159_uc001xyv.2_Missense_Mutation_p.P166S|C14orf159_uc001xze.2_Missense_Mutation_p.P161S	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	161						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTTCTGCTGCCCTCTGGTGGT	0.502000											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			9		0	0	0.000442599	0	0
TRIM15	89870	broad.mit.edu	37	6	30137018	30137018	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:30137018G>A	uc010jrx.3	+	4	1188	c.709_splice	c.e4-1	p.D237_splice		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	237					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTTTTGCAGGATGTCAGAGT	0.463000														50			15		0	0	0.000566183	0	0
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:179702336C>T	uc002une.2	-	22	3728	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_uc002unf.1_Missense_Mutation_p.E683K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	629							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)			TCATATTCTTCCCCTGAGAGC	0.567000														45			11		0	0	0.000673444	0	0
CSMD2	114784	broad.mit.edu	37	1	34158608	34158608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:34158608G>A	uc001bxm.1	-	24	4151	c.3974C>T	c.(3973-3975)tCa>tTa	p.S1325L	CSMD2_uc001bxn.1_Missense_Mutation_p.S1285L|CSMD2_uc001bxo.1_Missense_Mutation_p.S198L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1285	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACCCGGGTGACAGCACCTG	0.572000														117			23		0	0	0.00229938	0	0
C19orf12	83636	broad.mit.edu	37	19	30193665	30193665	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:30193665T>C	uc002nsj.3	-	2	540	c.413A>G	c.(412-414)aAc>aGc	p.N138S	C19orf12_uc002nsk.3_Missense_Mutation_p.N127S|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	127						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGTGACGTAGTTCACCAGCAT	0.632000														24			6		0	0	0.00198382	0	0
TMC5	79838	broad.mit.edu	37	16	19490792	19490792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:19490792C>T	uc002dgc.4	+	13	2958	c.2209C>T	c.(2209-2211)Ctt>Ttt	p.L737F	TMC5_uc010vaq.2_Missense_Mutation_p.L685F|TMC5_uc002dgb.4_Missense_Mutation_p.L737F|TMC5_uc010var.2_Missense_Mutation_p.L737F|TMC5_uc002dgd.1_Missense_Mutation_p.L491F|TMC5_uc002dge.4_Missense_Mutation_p.L491F|TMC5_uc002dgf.4_Missense_Mutation_p.L420F|TMC5_uc002dgg.4_Missense_Mutation_p.L378F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	737						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTACCGGCTCCTTCTGATGGA	0.483000														184			27		0	0	0.00178596	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202403814	202403814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:202403814C>T	uc001gya.2	+	8	1322	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PPP1R12B_uc001gxy.3_Missense_Mutation_p.S391F|PPP1R12B_uc009xae.2_Intron|PPP1R12B_uc009xad.2_Missense_Mutation_p.S197F	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	391					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAATCATTCCAACTCTGAA	0.368000														58			17		0	0	0.000958276	0	0
XDH	7498	broad.mit.edu	37	2	31565072	31565072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:31565072C>T	uc002rnv.1	-	31	3575	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1166					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTAGGCAGTCGATTTCTACT	0.443000														63			12		0	0	0.00136819	0	0
NDC80	10403	broad.mit.edu	37	18	2610828	2610828	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:2610828G>A	uc002kli.3	+	15	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding	p.E587K(2)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373000														80			15		0	0	0.00244969	0	0
ODZ3	55714	broad.mit.edu	37	4	183601489	183601489	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:183601489G>A	uc003ivd.1	+	7	1701	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	542	EGF-like 1.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCTGGGTCCGGATTGTTCAA	0.413000														21			4		0	0	0.00024832	0	0
DENND1A	57706	broad.mit.edu	37	9	126520023	126520023	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:126520023G>A	uc011lzm.1	-	2	379	c.165C>T	c.(163-165)tgC>tgT	p.C55C	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Silent_p.C87C|DENND1A_uc004boa.1_Silent_p.C87C|DENND1A_uc004bob.1_Silent_p.C57C|DENND1A_uc004boc.3_Silent_p.C55C	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	87	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGATAAGCGGCAGAACCCGA	0.488000														35			6		0	0	0.00116845	0	0
CD101	9398	broad.mit.edu	37	1	117561029	117561029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:117561029C>T	uc010oxb.1	+	5	1922	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	CD101_uc009whd.3_Missense_Mutation_p.R622C|CD101_uc010oxc.1_Missense_Mutation_p.R622C|CD101_uc010oxd.1_Missense_Mutation_p.R560C	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	622	Ig-like C2-type 5.				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						GTCTTTATTTCGTTCACAACT	0.448000														46			12		0	0	0.00185496	0	0
MYH4	4622	broad.mit.edu	37	17	10364237	10364237	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10364237C>T	uc002gmn.3	-	11	1254	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	381	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTACCTTCCGTGCCATCTG	0.483000														51			9		0	0	0.000978159	0	0
RAB41	347517	broad.mit.edu	37	X	69502086	69502086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:69502086G>A	uc010nkv.3	+	0	65	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.	7					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						CTTTGGTCACGACGAGGCCTG	0.562000														17			6		0	0	0.00198382	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780745	25780745	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:25780745G>A	uc003gru.4	-	15	2690	c.2538C>T	c.(2536-2538)atC>atT	p.I846I	SEL1L3_uc003grv.3_Silent_p.I253I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	846						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GGTTGCCTGTGATATAGTAGA	0.438000														66			11		0	0	0.00136819	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495289	64495289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:64495289G>A	uc002anf.3	-	9	1579	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R367*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R367*|CSNK1G1_uc002anj.3_Nonsense_Mutation_p.R349*	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	367					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						ACCTGATTTCGAAGAGGCTGC	0.453000														39			14		0	0	0.00185496	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838466	16838466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:16838466G>A	uc010rcu.1	-	10	1762	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P583S|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P157S|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P291S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	583	Interaction with CTNND1.|Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGCCGGGGTGGGAAGACCCTT	0.662000														34			8		0	0	0.000673444	0	0
OR13A1	79290	broad.mit.edu	37	10	45799868	45799868	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:45799868C>T	uc001jcc.1	-	3	312	c.3G>A	c.(1-3)atG>atA	p.M1I	OR13A1_uc001jcd.1_5'UTR|OR13A1_uc021ppq.1_Missense_Mutation_p.M1I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCCACAGCTTCATGTGATTTC	0.502000														59			9		0	0	0.000978159	0	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:8307709A>G	uc003gla.3	+	8	1415	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000														66			4		0	0	0.00024832	0	0
OASL	8638	broad.mit.edu	37	12	121458456	121458456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:121458456C>T	uc001tzj.1	-	5	1459	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	485	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCAACCAGTCCTGCAGGACT	0.522000														271			37		0	0	0.00128727	0	0
ZNF136	7695	broad.mit.edu	37	19	12297721	12297721	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:12297721C>T	uc002mti.3	+	3	675	c.528C>T	c.(526-528)acC>acT	p.T176T	ZNF136_uc010xmh.2_Silent_p.T110T	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTGGAAAAACCTTCTTTTCTC	0.383000														26			4		0	0	0.00024832	0	0
PPFIA4	8497	broad.mit.edu	37	1	203037611	203037611	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:203037611T>C	uc009xaj.3	+	31	3554	c.3554T>C	c.(3553-3555)gTt>gCt	p.V1185A	PPFIA4_uc010pqf.2_Missense_Mutation_p.V767A|PPFIA4_uc001gyz.3_Missense_Mutation_p.V554A|PPFIA4_uc001gza.3_Missense_Mutation_p.V545A|PPFIA4_uc001gzb.1_Missense_Mutation_p.V240A|PPFIA4_uc001gzc.1_Missense_Mutation_p.V96A			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	554					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GACCAGGTGGTTCATTGGGTC	0.552000														22			3		0	0	6.4e-05	0	0
FLRT3	23767	broad.mit.edu	37	20	14307372	14307372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:14307372G>A	uc021war.1	-	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.R261W|FLRT3_uc002wow.2_Missense_Mutation_p.R261W	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	261					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGGGCACCCGATTGATGTGG	0.443000														64			7		0	0	0.00198382	0	0
CES3	23491	broad.mit.edu	37	16	67000146	67000146	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:67000146G>A	uc002eqt.3	+	7	899	c.820_splice	c.e7-1	p.K274_splice	CES3_uc010cdz.3_Splice_Site_p.K274_splice|CES3_uc010viw.2_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	274						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGTCCCCAGAAAATCGCAA	0.567000														35			5		0	0	0.000602214	0	0
PRSS1	5644	broad.mit.edu	37	7	142459860	142459860	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:142459860A>T	uc003wak.2	+	2	453	c.436A>T	c.(436-438)Aac>Tac	p.N146Y	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.N86Y	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	146	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGGCTGGGGCAACACTGCGAG	0.577000														65			9		0	0	0.000442599	0	0
KRT76	51350	broad.mit.edu	37	12	53165685	53165685	+	Silent	SNP	T	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:53165685T>A	uc001sax.3	-	5	1287	c.1233A>T	c.(1231-1233)ctA>ctT	p.L411L		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	411	Coil 2.|Rod.				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						TCTCAGCCCGTAGCCTCTGGA	0.562000														87			8		0	0	0.000157383	0	0
BUB1B	701	broad.mit.edu	37	15	40494609	40494609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:40494609C>T	uc001zkx.4	+	12	1783	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	BUB1B_uc010ucl.1_Missense_Mutation_p.P392L	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTCTAGGTCCCAGTGTACCT	0.303000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					53			11		0	0	0.000978159	0	0
F13B	2165	broad.mit.edu	37	1	197019935	197019935	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:197019935C>T	uc001gtt.1	-	9	1674	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	544	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAGCCATTTTCATAGGTGTCT	0.363000														23			9		0	0	0.000274275	0	0
GALNT13	114805	broad.mit.edu	37	2	155295135	155295135	+	Missense_Mutation	SNP	G	A	A	rs148805770		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:155295135G>A	uc002tyt.4	+	9	1531	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	GALNT13_uc002tyr.4_Missense_Mutation_p.R476Q|GALNT13_uc010fod.3_Intron|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	476	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R476Q(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAGAAATCCGAACCGATGAC	0.338000														63			12		0	0	0.00136819	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908307	158908307	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:158908307G>A	uc001ftb.3	+	2	636	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PYHIN1_uc001fta.4_Missense_Mutation_p.G129E|PYHIN1_uc001ftc.3_Missense_Mutation_p.G120E|PYHIN1_uc001ftd.3_Missense_Mutation_p.G129E|PYHIN1_uc001fte.3_Missense_Mutation_p.G120E	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	129					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGCTAAAGGAGCAGAGGAG	0.488000														37			6		0	0	0.000157383	0	0
KCNK10	54207	broad.mit.edu	37	14	88652025	88652025	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:88652025C>T	uc001xwm.3	-	6	1608	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	KCNK10_uc001xwn.3_Missense_Mutation_p.E496K|KCNK10_uc001xwo.3_Missense_Mutation_p.E491K	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	491					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACATCTTTTCCGTCTCCTCC	0.502000														65			7		0	0	0.000157383	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375794	93375794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:93375794C>T	uc022bjs.1	-	0	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K	DIRAS2_uc004aqx.1_Missense_Mutation_p.E106K	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	106					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CCTTTGATCTCGCAGATTTGT	0.592000														84			8		0	0	0.000274275	0	0
FAM160A2	84067	broad.mit.edu	37	11	6236022	6236022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6236022G>A	uc001mck.4	-	9	2736	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	FAM160A2_uc001mcl.4_Missense_Mutation_p.R779C	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	779					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAAAGAGCGGAGCAGGGGC	0.602000														30			7		0	0	0.000274275	0	0
MTTP	4547	broad.mit.edu	37	4	100543903	100543903	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:100543903C>T	uc011cej.2	+	17	2677	c.2664C>T	c.(2662-2664)agC>agT	p.S888S	MTTP_uc003hvc.4_Silent_p.S861S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	861					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAAAAGAAAGCGTATTAGCAG	0.438000														77			9		0	0	0.000442599	0	0
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:139090653C>A	uc003etf.4	-	9	1247	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_uc011bmv.2_Missense_Mutation_p.G344W|COPB2_uc010hui.3_Missense_Mutation_p.G344W	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433000														54			5		0.00116845	0.00522974	0.00116845	1	0
SLIT1	6585	broad.mit.edu	37	10	98763970	98763970	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:98763970C>T	uc001kmw.2	-	33	3972	c.3720G>A	c.(3718-3720)acG>acA	p.T1240T		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1240	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATCGTTGATCGTCTCAGCAC	0.572000														96			8		0	0	0.000673444	0	0
MUC17	140453	broad.mit.edu	37	7	100681536	100681536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:100681536C>T	uc003uxp.1	+	2	6892	c.6839C>T	c.(6838-6840)cCa>cTa	p.P2280L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2280	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)					GGAACGACTCCATTAACAAGT	0.473000														154			72		0	0	0.000781405	0	0
KDM4B	23030	broad.mit.edu	37	19	5133943	5133943	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:5133943G>A	uc010xim.2	+	13	2166	c.2058G>A	c.(2056-2058)ttG>ttA	p.L686L	KDM4B_uc002mbq.4_Silent_p.L652L|KDM4B_uc002mbr.4_Silent_p.L410L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGACGCCTTGAGGCCGCTGC	0.617000														48			6		0	0	0.00116845	0	0
MYH1	4619	broad.mit.edu	37	17	10397900	10397900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10397900C>T	uc002gmo.3	-	37	5651	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1853						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TAAGTGAGTTCCTTCACTTTT	0.383000														94			10		0	0	0.000978159	0	0
ADAD2	161931	broad.mit.edu	37	16	84230329	84230329	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:84230329G>C	uc002fhq.2	+	9	1963	c.1849G>C	c.(1849-1851)Ggg>Cgg	p.G617R	ADAD2_uc002fhr.2_Missense_Mutation_p.G535R|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	535					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CAGGGCTGTGGGGAAGCCCTA	0.672000														62			4		0	0	0.00024832	0	0
ART3	419	broad.mit.edu	37	4	77003022	77003022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:77003022G>A	uc003hjo.3	+	2	249	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ART3_uc003hji.3_Missense_Mutation_p.E39K|ART3_uc003hjj.3_Missense_Mutation_p.E39K|ART3_uc003hjk.3_Missense_Mutation_p.E39K|ART3_uc010ija.2_Missense_Mutation_p.E39K|ART3_uc003hjn.3_Missense_Mutation_p.E39K|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.E9K|ART3_uc010ijc.3_Missense_Mutation_p.E9K|ART3_uc010ijd.3_Missense_Mutation_p.E9K	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	39					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTGATGATGAATACCTGAA	0.363000														123			16		0	0	0.000566183	0	0
IL4R	3566	broad.mit.edu	37	16	27353488	27353488	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:27353488G>T	uc002don.3	+	3	359	c.117G>T	c.(115-117)atG>atT	p.M39I	IL4R_uc002dom.3_Missense_Mutation_p.M39I|IL4R_uc002dop.4_Missense_Mutation_p.M24I|IL4R_uc010bxy.3_Missense_Mutation_p.M39I|IL4R_uc002doo.3_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	39					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCGACTACATGAGCATCTCTA	0.577000														81			5		0.00198382	0.00885538	0.00198382	1	0
SLC6A13	6540	broad.mit.edu	37	12	369077	369077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:369077C>T	uc001qic.2	-	1	232	c.142G>A	c.(142-144)Gag>Aag	p.E48K	SLC6A13_uc009zdj.2_Missense_Mutation_p.E48K|SLC6A13_uc010sdl.2_Missense_Mutation_p.E48K|SLC6A13_uc001qid.2_Missense_Mutation_p.E48K	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	48					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAATGATCTCCCCAGCCACT	0.537000														114			22		0	0	0.000720815	0	0
GZMA	3001	broad.mit.edu	37	5	54404140	54404140	+	Missense_Mutation	SNP	G	A	A	rs142064253		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:54404140G>A	uc003jpm.3	+	3	582	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	182	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.R182*(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGCAATGATCGAAATCACTAT	0.428000														40			15		0	0	0.000308642	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709064	78709064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:78709064C>T	uc001jxn.3	-	21	2722	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D741N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D795N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D467N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D640N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D474N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D832N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D791N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D794N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	849	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAGCTGACGTCGCCAAAGATG	0.552000														23			4		0	0	0.00024832	0	0
CSMD2	114784	broad.mit.edu	37	1	34254299	34254299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:34254299G>A	uc001bxm.1	-	11	1742	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	CSMD2_uc001bxn.1_Missense_Mutation_p.S482L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	482	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCCGGGACCGATGTACCTGT	0.493000														30			14		0	0	0.00244969	0	0
CCDC19	25790	broad.mit.edu	37	1	159863029	159863029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:159863029G>A	uc001fui.3	-	1	88	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R24C	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	24						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTCCGATAGCGAGCCTTATTC	0.517000														105			17		0	0	0.000422831	0	0
UNC79	57578	broad.mit.edu	37	14	94160732	94160732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:94160732G>A	uc001ybv.1	+	45	7257	c.7174G>A	c.(7174-7176)Gaa>Aaa	p.E2392K	UNC79_uc001ybs.1_Missense_Mutation_p.E2370K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2547						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCATTGCAGGAATGCAATTC	0.338000														47			5		0	0	0.00198382	0	0
CLCN7	1186	broad.mit.edu	37	16	1498384	1498384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:1498384G>A	uc002clv.2	-	20	2095	c.1985C>T	c.(1984-1986)cCc>cTc	p.P662L	CLCN7_uc002clu.2_Missense_Mutation_p.P110L|CLCN7_uc002clw.2_Missense_Mutation_p.P638L	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	662	CBS 1.					integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTCCACCACGGGGAAGCCGTT	0.622000														24			5		0	0	0.000602214	0	0
OSTalpha	200931	broad.mit.edu	37	3	195955680	195955680	+	Splice_Site	SNP	G	A	A	rs146316634	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:195955680G>A	uc003fwd.3	+	6	723	c.522_splice	c.e6-1	p.R174_splice	OSTalpha_uc010iac.1_Splice_Site_p.R58_splice|OSTalpha_uc003fwe.3_Splice_Site_p.R41_splice	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	174						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		CCCCACTCAGGAAGAAGCTTC	0.607000														80			6		0	0	0.00198382	0	0
OR10H2	26538	broad.mit.edu	37	19	15839066	15839066	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:15839066C>T	uc002nbm.2	+	0	233	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCCGAGATCCTCTACACCG	0.632000														52			6		0	0	0.00116845	0	0
abParts	0	broad.mit.edu	37	14	107078450	107078450	+	RNA	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:107078450C>T	uc021ser.1	-	135		c.6224G>A								Parts of antibodies, mostly variable regions.																		GTGGACATGTCCCTGGTAATG	0.537000														140			16		0	0	0.000308642	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981800	61981800	+	Silent	SNP	G	A	A	rs121912261		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:61981800G>A	uc002yes.2	-	4	1141	c.963C>T	c.(961-963)atC>atT	p.I321I	CHRNA4_uc002yet.1_Silent_p.I145I|CHRNA4_uc010gke.1_Silent_p.I250I|CHRNA4_uc002yev.1_Silent_p.I145I|CHRNA4_uc010gkf.1_Silent_p.I145I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	321					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I321I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCGTGATGACGATGGACAGGG	0.607000														44			18		0	0	0.000566183	0	0
DBC1	1620	broad.mit.edu	37	9	121929768	121929768	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:121929768G>A	uc004bkc.2	-	7	2336	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	627					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCGCAGTAGGGTAGGTAGCCG	0.532000														100			18		0	0	0.00074312	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762115	101762115	+	Silent	SNP	A	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:101762115A>T	uc001pgl.3	-	8	1658	c.1062T>A	c.(1060-1062)ctT>ctA	p.L354L		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	354	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTCCAGTTGCAAGCAATTTTC	0.398000														84			24		0	0	0.000720815	0	0
CLUL1	27098	broad.mit.edu	37	18	627154	627154	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:627154G>A	uc010wys.2	+	6	871	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CLUL1_uc002kkp.3_Missense_Mutation_p.E161K|CLUL1_uc002kkq.3_Missense_Mutation_p.E161K	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	161					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGAAGATAATGAAAAAGATCT	0.373000														63			9		0	0	0.000442599	0	0
POLE	5426	broad.mit.edu	37	12	133245029	133245029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:133245029G>A	uc001uks.1	-	18	2130	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P669S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	696					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AACAAGGGGGGGAACTTCTCT	0.602000								DNA polymerases (catalytic subunits)						78			6		0	0	0.00198382	0	0
RGNEF	64283	broad.mit.edu	37	5	73153511	73153511	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:73153511C>T	uc010izf.3	+	14	1997	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	RGNEF_uc011csq.2_Silent_p.I607I|RGNEF_uc021yam.1_Silent_p.I607I|RGNEF_uc011csr.2_Silent_p.I294I	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	607					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATAAATACATCATACCTGCCA	0.353000														6			4		0	0	0.00024832	0	0
H2AFX	3014	broad.mit.edu	37	11	118965752	118965752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:118965752G>A	uc001pvg.3	-	0	426	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_002105	NP_002096	P16104	H2AX_HUMAN	Homo sapiens H2A histone family, member X (H2AFX), mRNA.	118					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGTCTTCTTGGGCAGCAGCAC	0.711000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			18		0	0	0.00152264	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087307	39087307	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:39087307C>T	uc011aej.1	-	2	206	c.153G>A	c.(151-153)agG>agA	p.R51R	KCNJ6_uc002ywo.2_Silent_p.R51R	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	51					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)	TCTGGATTTTCCTTTTGGTCC	0.522000														105			12		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221176	140221176	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140221176C>T	uc003lhs.2	+	0	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I90I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I90I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.612000														96			33		0	0	0.000953801	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060335	35060335	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:35060335C>T	uc002xff.3	+	2	650	c.215C>T	c.(214-216)cCc>cTc	p.P72L	DLGAP4_uc010zvp.2_Missense_Mutation_p.P72L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	72					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCACCTTTCCCCGCATCCAC	0.667000														29			10		0	0	0.000442599	0	0
PASK	23178	broad.mit.edu	37	2	242072321	242072321	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:242072321G>A	uc002wao.2	-	8	1564	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	PASK_uc010zol.2_Silent_p.L291L|PASK_uc010zom.2_Silent_p.L442L|PASK_uc010fzl.2_Silent_p.L477L|PASK_uc010zon.2_Silent_p.L258L|PASK_uc021vzf.1_Silent_p.L477L|PASK_uc002wap.3_Silent_p.L20L|PASK_uc002waq.3_Silent_p.L477L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	477					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCAGGAAAGGAGCTGGCCTC	0.552000														37			9		0	0	0.000442599	0	0
MPP5	64398	broad.mit.edu	37	14	67745903	67745903	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:67745903A>C	uc001xjc.3	+	2	482	c.16A>C	c.(16-18)Atg>Ctg	p.M6L	MPP5_uc001xjd.3_Intron|MPP5_uc001xjb.1_Missense_Mutation_p.M6L	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	Homo sapiens membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) (MPP5), mRNA.	6					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AACATCCCATATGAATGGGCA	0.373000														23			3		0	0	0.00024832	0	0
FSHR	2492	broad.mit.edu	37	2	49381435	49381435	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:49381435G>A	uc002rww.3	-	0	232	c.122C>T	c.(121-123)cCt>cTt	p.P41L	FSHR_uc010fbn.3_Missense_Mutation_p.P41L|FSHR_uc002rwx.3_Missense_Mutation_p.P41L|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	41	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGGTCAGAAGGAATCTCTGT	0.478000									Gonadal Dysgenesis, 46 XX					17			5		0	0	0.00198382	0	0
CBLL1	79872	broad.mit.edu	37	7	107393930	107393930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:107393930C>T	uc003veq.3	+	2	586	c.256C>T	c.(256-258)Cct>Tct	p.P86S	CBLL1_uc011kme.2_5'UTR|CBLL1_uc011kmf.2_Missense_Mutation_p.P85S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	86					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GCGAAGATTTCCTGGACACCT	0.284000														39			22		0	0	0.00047179	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798432	55798432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55798432G>A	uc010riw.2	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	180					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)					TTTTTTCTGTGATATCCCACC	0.443000														135			30		0	0	0.00178596	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008250	32008250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:32008250C>T	uc003nze.2	+	7	1114	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	CYP21A2_uc003nzf.2_Missense_Mutation_p.P306L	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	335					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TCCCGGGTCCCCTACAAGGAC	0.667000														124			20		0	0	0.00278032	0	0
RYR3	6263	broad.mit.edu	37	15	34118875	34118875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:34118875G>A	uc001zhi.3	+	83	11237	c.11167G>A	c.(11167-11169)Gaa>Aaa	p.E3723K	RYR3_uc010bar.3_Missense_Mutation_p.E3718K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3723					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)		TTTTCAAGGTGAAAAAGTACT	0.403000														150			20		0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13841135	13841135	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:13841135G>A	uc003jfd.2	-	33	5631	c.5589C>T	c.(5587-5589)ttC>ttT	p.F1863F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1863	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)					GTAGCTCCAGGAAAGCCTGAT	0.403000									Kartagener syndrome					44			9		0	0	0.000274275	0	0
AK057473	0	broad.mit.edu	37	17	20805855	20805856	+	RNA	DNP	CC	TT	TT			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:20805855_20805856CC>TT	uc002gyg.1	+	3		c.1039_1040CC>TT			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TGACAAAGTCCCAGGTCTCATC	0.525000														27			6		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9072414	9072414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9072414G>A	uc002mkp.3	-	2	15236	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5013	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						ATCCAATTGTGAAAATCCATG	0.483000														38			5		0	0	0.000602214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916194	9916194	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:9916194G>A	uc010uym.2	-	10	2405	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GRIN2A_uc002czo.4_Missense_Mutation_p.P699S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P542S|GRIN2A_uc002czr.4_Missense_Mutation_p.P699S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	699					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	TGCATGTAGGGATAGTTATTC	0.458000														46			6		0	0	0.00116845	0	0
GCFC2	6936	broad.mit.edu	37	2	75929383	75929383	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:75929383C>G	uc002sno.3	-	2	691	c.561G>C	c.(559-561)aaG>aaC	p.K187N	GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_Missense_Mutation_p.K18N|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.K187N	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	187					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										ATGGTATTCTCTTTTCATGGT	0.373000														96			14		0	0	0.000422831	0	0
CNGA4	1262	broad.mit.edu	37	11	6260614	6260614	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6260614G>A	uc001mco.3	+	2	178	c.63_splice	c.e2-1	p.R21_splice	CNGA4_uc010raa.2_Splice_Site|CNGA4_uc001mcn.3_Splice_Site	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	21					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTTACAGGAAGTTGCTGC	0.483000														153			41		0	0	0.00170553	0	0
CDH9	1007	broad.mit.edu	37	5	26881418	26881418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:26881418C>T	uc003jgs.1	-	11	2366	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	CDH9_uc011cnv.1_Missense_Mutation_p.D326N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	733					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCAGCGAATCATATGGAGGT	0.413000														24			11		0	0	0.000673444	0	0
FARP1	10160	broad.mit.edu	37	13	99042345	99042345	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:99042345C>T	uc001vnh.3	+	9	1229	c.990C>T	c.(988-990)ctC>ctT	p.L330L	FARP1_uc001vnj.3_Silent_p.L330L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	330					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCCCGTCCTCTTTAGCCGGG	0.522000														115			13		0	0	0.000566183	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488710	73488710	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:73488710C>T	uc010wsa.2	+	13	1974	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P	KIAA0195_uc002jnz.4_Silent_p.P584P|KIAA0195_uc010wsb.2_Silent_p.P224P|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	584					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCAAACCCCTGGGCCTCA	0.607000														48			5		0	0	0.000602214	0	0
MGAM	8972	broad.mit.edu	37	7	141740608	141740608	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:141740608C>T	uc003vwy.3	+	20	2514	c.2460C>T	c.(2458-2460)atC>atT	p.I820I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	820	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)	GAGGCTACATCTTCCCCACAC	0.478000														36			4		0	0	0.00024832	0	0
INSL6	11172	broad.mit.edu	37	9	5185451	5185451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:5185451C>T	uc003zix.3	-	0	168	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	51						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACGGAACTGGCTCCAGTTGGC	0.542000														78			8		0	0	0.000274275	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102514	87102514	+	RNA	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:87102514C>T	uc010osh.2	+	3		c.498C>T								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGGCCCATCTCCGGTGGGGAG	0.368000														66			13		0	0	0.000308642	0	0
MAST4	375449	broad.mit.edu	37	5	66427663	66427663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:66427663G>A	uc021xzk.1	+	15	2285	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	MAST4_uc003jut.2_Missense_Mutation_p.M470I|MAST4_uc003juu.1_Missense_Mutation_p.M480I|MAST4_uc011cra.1_Missense_Mutation_p.M453I|MAST4_uc003juv.2_Missense_Mutation_p.M465I|MAST4_uc003juw.3_Missense_Mutation_p.M465I	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	662	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTACTTTAATGAAAAACATGG	0.398000														53			16		0	0	0.000566183	0	0
OR4K5	79317	broad.mit.edu	37	14	20389351	20389351	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:20389351G>A	uc010tkw.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACATCATTGAAATACTAAT	0.408000														125			17		0	0	0.00074312	0	0
CNNM4	26504	broad.mit.edu	37	2	97464925	97464925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:97464925C>T	uc002swx.3	+	3	1911	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	CNNM4_uc010yuy.2_Nonsense_Mutation_p.R92*	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	605					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTGTACACCCGAAATAAGCC	0.577000														63			6		0	0	0.000673444	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161585	40161585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:40161585G>A	uc003ayg.3	-	5	1113	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	288								p.P288L(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGCCCAGAAGGACTATTTTCT	0.333000														96			7		0	0	0.00198382	0	0
RDH12	145226	broad.mit.edu	37	14	68196002	68196002	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:68196002C>T	uc001xjz.4	+	7	1077	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	251					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GGCGGCTCTTCTCCCCCTTTG	0.682000														77			9		0	0	0.000274275	0	0
NEK5	341676	broad.mit.edu	37	13	52676141	52676141	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:52676141C>T	uc001vge.3	-	10	960	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	274							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGAATTCTTCCTGAATGACC	0.463000														46			6		0	0	0.00116845	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798797	55798797	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55798797C>T	uc010riw.2	+	0	903	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	301					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)					AAAATGCTCTCAAAAAGCTAT	0.303000														54			8		0	0	0.000157383	0	0
CARS	833	broad.mit.edu	37	11	3063454	3063454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:3063454G>A	uc001lxf.3	-	2	391	c.307C>T	c.(307-309)Cct>Tct	p.P103S	CARS_uc010qxo.2_Missense_Mutation_p.P103S|CARS_uc001lxe.3_5'UTR|CARS_uc001lxg.3_Missense_Mutation_p.P20S|CARS_uc001lxh.3_Missense_Mutation_p.P20S|CARS_uc010qxp.2_Missense_Mutation_p.P33S	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	20					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCAGCAGGAGGGGACCACTGG	0.617000			T	ALK	ALCL									61			11		0	0	0.00136819	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671551	10671551	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:10671551G>A	uc002kos.2	-	51	8406	c.8232C>T	c.(8230-8232)atC>atT	p.I2744I	PIEZO2_uc002koq.3_Silent_p.I536I	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2744						integral to membrane	ion channel activity										TAGTCCATTTGATCATTGTCT	0.328000														30			6		0	0	0.000157383	0	0
TPGS2	25941	broad.mit.edu	37	18	34387862	34387863	+	Missense_Mutation	DNP	GT	TC	TC			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:34387862_34387863GT>TC	uc002kzw.1	-	2	628_629	c.200_201AC>GA	c.(199-201)aac>aGA	p.N67R	TPGS2_uc010xci.1_Missense_Mutation_p.N67R|TPGS2_uc002kzx.1_Missense_Mutation_p.N67R|TPGS2_uc002kzy.3_Missense_Mutation_p.N67R	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	Homo sapiens tubulin polyglutamylase complex subunit 2 (TPGS2), mRNA.	67						cytoplasm|microtubule											TCAGGTAAAAGTTCTTCACATC	0.460000														70			9		0	0	6.4e-05	0	0
FSTL5	56884	broad.mit.edu	37	4	162508718	162508718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:162508718C>T	uc003iqh.3	-	7	1340	c.904G>A	c.(904-906)Gat>Aat	p.D302N	FSTL5_uc003iqi.3_Missense_Mutation_p.D301N|FSTL5_uc010iqv.3_Missense_Mutation_p.D301N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	302	Ig-like 1.					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)		GACCCATCATCTCCAAAGTCC	0.323000														64			5		0	0	0.000602214	0	0
SYNE1	23345	broad.mit.edu	37	6	152644639	152644639	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:152644639G>A	uc021zhb.1	-	79	16114	c.15891C>T	c.(15889-15891)atC>atT	p.I5297I	SYNE1_uc003qot.4_Silent_p.I5226I|SYNE1_uc003qou.4_Silent_p.I5297I|SYNE1_uc010kiz.3_Silent_p.I1052I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5297					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GCATGGCGGTGATTTCCTGCA	0.557000										HNSCC(10;0.0054)				55			14		0	0	0.000308642	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														48			4		0	0	0.00024832	0	0
FAM21C	253725	broad.mit.edu	37	10	46261178	46261178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:46261178G>A	uc001jcu.3	+	18	1907	c.1789G>A	c.(1789-1791)Gct>Act	p.A597T	FAM21C_uc001jcs.2_Missense_Mutation_p.A542T|FAM21C_uc010qfk.2_Missense_Mutation_p.A597T|FAM21C_uc010qfi.2_Missense_Mutation_p.A573T|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	597										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTCTCTACAAGCTCAGAGAGA	0.433000														187			20		0	0	0.00278032	0	0
MSTO1	55154	broad.mit.edu	37	1	155582230	155582230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:155582230C>T	uc001fky.3	+	8	868	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	MSTO1_uc001fkw.3_Missense_Mutation_p.R279C|MSTO1_uc001fkx.3_Missense_Mutation_p.R279C|MSTO1_uc001fld.4_Missense_Mutation_p.R101C|MSTO1_uc009wqs.3_Missense_Mutation_p.R158C|MSTO1_uc010pgf.2_Missense_Mutation_p.R224C|MSTO1_uc001fla.3_Missense_Mutation_p.R98C|MSTO1_uc001flb.3_Missense_Mutation_p.R148C|MSTO1_uc001flc.3_Missense_Mutation_p.R101C	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	Homo sapiens misato homolog 1 (Drosophila) (MSTO1), mRNA.	279					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AAACATCTATCGTCTATTAAA	0.532000														49			24		0	0	0.00127121	0	0
DIP2B	57609	broad.mit.edu	37	12	51069147	51069147	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:51069147C>T	uc001rwv.3	+	6	988	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	DIP2B_uc001rwu.3_Nonsense_Mutation_p.Q278*|DIP2B_uc009zls.2_Nonsense_Mutation_p.Q160*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	278						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACAAAAATCCAGCAGCTTCT	0.368000														60			9		0	0	0.000274275	0	0
PSG7	5676	broad.mit.edu	37	19	43430058	43430058	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:43430058C>T	uc002ovl.4	-	5	1209	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.G248G	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000														148			20		0	0	0.00188189	0	0
KRT34	3885	broad.mit.edu	37	17	39538267	39538268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39538267_39538268CC>TT	uc002hwm.3	-	0	369_370	c.357_358GG>AA	c.(355-360)ctggag>ctAAag	p.E120K		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	120	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTGTCCCGCTCCAGCTGACGCA	0.594000														78			11		0	0	6.4e-05	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971097	+	Missense_Mutation	DNP	CC	TT	TT	rs121913384		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:21971096_21971097CC>TT	uc003zpk.3	-	1	567_568	c.261_262GG>AA	c.(259-264)cgggag>cgAAag	p.E88K	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.E88K|CDKN2A_uc003zpl.3_Missense_Mutation_p.G102K	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	88			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(30)|p.E88E(6)|p.E88K(6)|p.V82_G89>G(2)|p.E88D(2)|p.V82_E88del(2)|p.D84_F90del(2)|p.E87K(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.G143V(1)|p.R87fs*59(1)|p.E88A(1)|p.E88G(1)|p.A68fs*3(1)|p.E88V(1)|p.0(1)|p.R137fs*48(1)|p.R87L(1)|p.R87Q(1)|p.R87W(1)|p.R87fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCGT	0.752000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				94			14		0	0	6.4e-05	0	0
SIM1	6492	broad.mit.edu	37	6	100838556	100838556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:100838556G>A	uc003pqj.4	-	10	2449	c.1982C>T	c.(1981-1983)cCc>cTc	p.P661L	SIM1_uc021zdg.1_Missense_Mutation_p.P661L|SIM1_uc010kcu.3_Missense_Mutation_p.P661L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	661	Single-minded C-terminal.				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)		ATCCGAATTGGGACTACTTAT	0.458000														164			10		0	0	0.000442599	0	0
CYBB	1536	broad.mit.edu	37	X	37670055	37670055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:37670055G>A	uc004ddr.2	+	12	1659	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	CYBB_uc011mkf.1_Missense_Mutation_p.G501E|CYBB_uc011mkg.1_Missense_Mutation_p.G266E	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	533					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACCAGAATAGGAGTTTTCCTC	0.438000														13			5		0	0	0.00198382	0	0
CDHR2	54825	broad.mit.edu	37	5	176011785	176011785	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:176011785G>A	uc021yie.1	+	18	2777	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	CDHR2_uc003mem.2_Missense_Mutation_p.D835N|CDHR2_uc003men.1_Missense_Mutation_p.D835N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	835	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTTGCCTCGGATGTGGACAC	0.612000														59			18		0	0	0.000958276	0	0
ALOX12B	242	broad.mit.edu	37	17	7978985	7978985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:7978985C>T	uc002gjy.1	-	11	1843	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	528	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						GGATCACCCTCCACGGCTGCG	0.572000										Multiple Myeloma(8;0.094)				145			21		0	0	0.00047179	0	0
TRIM55	84675	broad.mit.edu	37	8	67062108	67062108	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:67062108C>T	uc003xvv.3	+	4	1058	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	TRIM55_uc003xvu.3_Silent_p.L278L|TRIM55_uc003xvw.3_Silent_p.L278L|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	278	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGCAGTGTTTCTGCAGGTAAG	0.368000														46			12		0	0	0.000978159	0	0
PRKD2	25865	broad.mit.edu	37	19	47197331	47197331	+	Silent	SNP	C	T	T	rs61739905	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:47197331C>T	uc002pfh.3	-	10	1719	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.P302P|PRKD2_uc002pfi.3_Silent_p.P459P|PRKD2_uc002pfj.3_Silent_p.P459P|PRKD2_uc010xye.2_Silent_p.P459P|PRKD2_uc002pfk.3_Silent_p.P302P	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	459	PH.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.P459P(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGTGCCCGGCGGCACAAGGC	0.622000														39			6		0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	168105894	168105894	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:168105894G>A	uc002udx.3	+	8	8081	c.7992G>A	c.(7990-7992)agG>agA	p.R2664R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.R2489R|XIRP2_uc010fpq.3_Silent_p.R2442R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2489					actin cytoskeleton organization	cell junction	actin binding	p.R2664G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGCTCAAGGGACATTATGC	0.408000														32			6		0	0	0.00116845	0	0
OR1L3	26735	broad.mit.edu	37	9	125437530	125437530	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125437530G>A	uc011lzb.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACTTTGATGGGAAATCTGCTC	0.428000														94			19		0	0	0.00047179	0	0
FLG2	388698	broad.mit.edu	37	1	152323959	152323959	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:152323959C>T	uc001ezw.4	-	2	6376	c.6303G>A	c.(6301-6303)agG>agA	p.R2101R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2101							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCAGATCCCCTTCTTCCAG	0.527000														223			85		0	0	0.000781405	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16837726	16837726	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:16837726G>A	uc010rcu.1	-	12	1968	c.1953_splice	c.e12+1	p.S651_splice	PLEKHA7_uc001mmo.3_Splice_Site_p.S651_splice|PLEKHA7_uc010rcv.2_Splice_Site_p.S225_splice|PLEKHA7_uc001mmn.3_Splice_Site_p.S359_splice	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	651	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACCCTACCGATTTTCCATG	0.502000														31			12		0	0	0.00136819	0	0
PTK6	5753	broad.mit.edu	37	20	62168598	62168598	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:62168598C>T	uc002yfg.3	-	0	110	c.70G>A	c.(70-72)Gac>Aac	p.D24N	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.D24N	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	24	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGCTCCTCGTCCGTCCGGGAC	0.711000														9			5		0	0	0.00198382	0	0
BBS1	582	broad.mit.edu	37	11	66283032	66283032	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:66283032C>T	uc001oii.1	+	4	643	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	BBS1_uc010rpf.1_Intron|BBS1_uc001oil.1_Silent_p.L152L|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Silent_p.L152L|BBS1_uc001oik.1_Silent_p.L76L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	152					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCCCTTAACCCTGAAGGAGAT	0.577000									Bardet-Biedl syndrome					45			6		0	0	0.00198382	0	0
FAT4	79633	broad.mit.edu	37	4	126373774	126373774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:126373774C>T	uc003ifj.4	+	8	11603	c.11603C>T	c.(11602-11604)cCa>cTa	p.P3868L	FAT4_uc011cgp.2_Missense_Mutation_p.P2166L|FAT4_uc003ifi.1_Missense_Mutation_p.P1346L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3868	EGF-like 2; calcium-binding (Potential).				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						GAATGTCTTCCATCACCTTGC	0.483000														30			5		0	0	0.00116845	0	0
MYO5C	55930	broad.mit.edu	37	15	52497304	52497304	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:52497304G>A	uc010bff.3	-	37	4740	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1526	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.S1526S(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTCAGGCCGGAAATGCCCT	0.597000														79			19		0	0	0.000958276	0	0
COL1A1	1277	broad.mit.edu	37	17	48263699	48263699	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:48263699C>T	uc002iqm.3	-	48	4110	c.3984G>A	c.(3982-3984)gaG>gaA	p.E1328E	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1328	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGTCATGCTCTCGCCGAACC	0.572000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							80			6		0	0	0.00198382	0	0
CERS3	204219	broad.mit.edu	37	15	101009590	101009590	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:101009590G>A	uc002bwa.3	-	11	1442	c.871C>T	c.(871-873)Cct>Tct	p.P291S	CERS3_uc002bvz.3_Missense_Mutation_p.P280S|CERS3_uc002bwb.3_Missense_Mutation_p.P280S	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	280	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.P280S(2)									CACCAGAAAGGAAAAACAATG	0.493000														61			9		0	0	0.000673444	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883575	29883575	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:29883575G>A	uc010vec.2	-	16	2920	c.2675C>T	c.(2674-2676)tCg>tTg	p.S892L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S822L|SEZ6L2_uc002dur.4_Missense_Mutation_p.S809L|SEZ6L2_uc002duq.4_Missense_Mutation_p.S879L|SEZ6L2_uc010ved.2_Missense_Mutation_p.S848L|SEZ6L2_uc002dus.4_Missense_Mutation_p.S778L	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	879						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGGAGCCCGAGAAGCCGAA	0.597000														28			5		0	0	0.000602214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858085	9858085	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:9858085G>A	uc010uym.2	-	13	3626	c.3316C>T	c.(3316-3318)Ctg>Ttg	p.L1106L	GRIN2A_uc002czo.4_Silent_p.L1106L|GRIN2A_uc010uyn.2_Silent_p.L949L|GRIN2A_uc002czr.4_Silent_p.L1106L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1106					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	TTGGTTTTCAGGTAGGTGCGC	0.463000														119			8		0	0	0.000157383	0	0
MTMR14	64419	broad.mit.edu	37	3	9743578	9743578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:9743578C>T	uc003brz.3	+	18	2025	c.1874C>T	c.(1873-1875)cCt>cTt	p.P625L	MTMR14_uc003bsa.3_Missense_Mutation_p.P573L|MTMR14_uc003bsb.3_Missense_Mutation_p.P513L|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.P267L|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Missense_Mutation_p.P196L|CPNE9_uc003bsd.3_5'Flank|CPNE9_uc021wst.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	625						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)					GCCCCCAGTCCTTCCGGTGCC	0.617000														74			5		0	0	0.00116845	0	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56459349G>A	uc002qmh.3	+	0	152	c.81G>A	c.(79-81)tgG>tgA	p.W27*	NLRP8_uc010etg.3_Nonsense_Mutation_p.W27*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000														67			5		0	0	0.00116845	0	0
LARP4	113251	broad.mit.edu	37	12	50860811	50860811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:50860811C>T	uc001rwp.2	+	12	1655	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	LARP4_uc001rwq.2_Missense_Mutation_p.P414S|LARP4_uc001rwt.2_Missense_Mutation_p.P343S|LARP4_uc001rws.2_Missense_Mutation_p.P484S|LARP4_uc001rwr.2_Missense_Mutation_p.P414S|LARP4_uc021qxv.1_Missense_Mutation_p.P415S|LARP4_uc009zlr.1_Missense_Mutation_p.P304S	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	485							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTCAAATTTTCCACCTTTACC	0.378000														75			9		0	0	0.000274275	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428991	19428991	+	RNA	SNP	G	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:19428991G>C	uc010tcj.1	-	0		c.17119C>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ACACTTTCTCGGGGACACACT	0.353000														91			12		0	0	0.000308642	0	0
FAM131B	9715	broad.mit.edu	37	7	143053789	143053789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:143053789C>T	uc010lpa.3	-	6	1081	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	FAM131B_uc010loz.3_Missense_Mutation_p.E253K|FAM131B_uc003wct.3_Missense_Mutation_p.E285K|FAM131B_uc003wcu.4_Missense_Mutation_p.E285K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	285										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCATCCTCTTCCTCCTCAGGT	0.627000														157			8		0	0	0.000442599	0	0
OR1L8	138881	broad.mit.edu	37	9	125330724	125330724	+	Silent	SNP	G	A	A	rs41305505		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125330724G>A	uc004bmp.1	-	0	33	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATAAACTCGGAGACACTGC	0.458000														37			4		0	0	0.00024832	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884022	69884022	+	Missense_Mutation	SNP	G	A	A	rs147376959	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:69884022G>A	uc011cao.1	-	3	796	c.670C>T	c.(670-672)Cca>Tca	p.P224S	UGT2B10_uc011can.1_Missense_Mutation_p.P140S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	268					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGTAAGAATGGATGAGGAAAT	0.393000														72			6		0	0	0.00116845	0	0
FLNC	2318	broad.mit.edu	37	7	128494537	128494537	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:128494537C>T	uc003vnz.4	+	40	7007	c.6798C>T	c.(6796-6798)atC>atT	p.I2266I	FLNC_uc003voa.4_Silent_p.I2233I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2266					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCAGAGATCGTCGAGGGCG	0.642000														10			4		0	0	0.000602214	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531250	8531250	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:8531250C>T	uc010dwe.3	+	6	842	c.762C>T	c.(760-762)tcC>tcT	p.S254S	HNRNPM_uc010dwc.1_Silent_p.S254S|HNRNPM_uc010xke.1_Silent_p.S215S|HNRNPM_uc010dwd.3_Silent_p.S215S|HNRNPM_uc002mka.3_Silent_p.S134S	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	254	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTGAACAGTCCATTGAAGCTG	0.398000														79			12		0	0	0.00136819	0	0
OR8A1	390275	broad.mit.edu	37	11	124440012	124440012	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:124440012G>A	uc010san.2	+	0	48	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCACCCAGAGGAGAATGGCTG	0.512000														31			6		0	0	0.00116845	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900267	34900268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:34900267_34900268CC>TT	uc002nvj.3	+	3	571_572	c.538_539CC>TT	c.(538-540)cct>TTt	p.P180F		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	180						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTGTGCCTCCTGGGCTGCCG	0.579000														71			9		0	0	6.4e-05	0	0
NPTX2	4885	broad.mit.edu	37	7	98254310	98254310	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:98254310C>T	uc003upl.2	+	2	897	c.720C>T	c.(718-720)atC>atT	p.I240I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	240	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCAAGATCAAGAAGACGC	0.592000														108			35		0	0	0.00111076	0	0
KIF15	56992	broad.mit.edu	37	3	44879877	44879877	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:44879877C>T	uc003cnx.4	+	26	3431	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T	KIF15_uc010hiq.3_Silent_p.T997T|KIF15_uc010hir.3_Silent_p.T142T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1094					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)		AAGAACTGACCAAGAAGGAAG	0.527000														33			8		0	0	0.000157383	0	0
GPR112	139378	broad.mit.edu	37	X	135428902	135428902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:135428902C>T	uc004ezu.1	+	5	3328	c.3037C>T	c.(3037-3039)Cat>Tat	p.H1013Y	GPR112_uc010nsb.1_Missense_Mutation_p.H808Y|GPR112_uc010nsc.1_Missense_Mutation_p.H780Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1013					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1012T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCCTGTTACTCATATGTTCTC	0.507000														35			18		0	0	0.00152264	0	0
LCT	3938	broad.mit.edu	37	2	136570134	136570134	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:136570134G>A	uc002tuu.1	-	6	2111	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	700	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATAGCTAGGGATGCAGGTGT	0.552000														38			8		0	0	0.00136819	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														34			13		0	0	0.00209593	0	0
ZFP106	64397	broad.mit.edu	37	15	42743200	42743200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:42743200G>A	uc001zpw.3	-	1	1528	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P184S|ZFP106_uc001zpy.1_Missense_Mutation_p.P424S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	401						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCTGTGTTGGGGAATTACGT	0.428000														163			21		0	0	0.00278032	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253837	81253837	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:81253837G>A	uc002fgh.1	-	0	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PKD1L2_uc002fgj.3_Missense_Mutation_p.R47C	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	47	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGGAAGGTGCGTCCGAGTGGC	0.557000														58			9		0	0	0.000442599	0	0
KRT28	162605	broad.mit.edu	37	17	38955977	38955977	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:38955977G>A	uc002hvh.1	-	0	235	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	57	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTCCCACCAGGAACACTGCCC	0.562000														55			9		0	0	0.000442599	0	0
MFSD1	64747	broad.mit.edu	37	3	158523191	158523191	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:158523191C>T	uc003fcl.2	+	2	484	c.404C>T	c.(403-405)gCc>gTc	p.A135V	MFSD1_uc011bow.2_Intron|MFSD1_uc003fcm.2_Intron|MFSD1_uc003fcn.2_Intron	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	86					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTGTATGCCTGGTATTCT	0.338000														143			35		0	0	0.00128727	0	0
ZNF816	125893	broad.mit.edu	37	19	53456034	53456034	+	Silent	SNP	A	G	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:53456034A>G	uc002qal.2	-	3	511	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L	ZNF816_uc010eqj.3_Silent_p.L54L|ZNF816_uc002qak.2_Silent_p.L38L|ZNF816_uc021uzc.1_Silent_p.L54L|ZNF816_uc002qam.2_Silent_p.L54L	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAGTTCTCCAACATCACAGCC	0.468000														104			20		0	0	0.00188189	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:248616137C>T	uc001iek.1	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000														94			17		0	0	0.00278032	0	0
NBPF14	25832	broad.mit.edu	37	1	148344705	148344705	+	Silent	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:148344705C>T	uc001eqf.3	-	1	248	c.213G>A	c.(211-213)ctG>ctA	p.L71L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc001erc.4_Intron|NBPF14_uc001erd.4_Silent_p.L71L|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'Flank|NBPF14_uc010pav.2_Silent_p.L71L|NBPF14_uc010paw.2_Intron	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	2						cytoplasm		p.L71L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTCATTCCTCAGCATAAATT	0.542000														257			13		0	0	0.00121646	0	0
PROS1	5627	broad.mit.edu	37	3	93624753	93624753	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:93624753T>C	uc003drb.4	-	5	817	c.476A>G	c.(475-477)aAt>aGt	p.N159S	PROS1_uc010hoo.3_Missense_Mutation_p.N28S|PROS1_uc003dqz.4_Missense_Mutation_p.N28S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	159	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTGCATTCATTTATGTCTAA	0.358000														126			9		0	0	0.000274275	0	0
RABGEF1	27342	broad.mit.edu	37	7	66264330	66264330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:66264330C>T	uc003tvf.3	+	10	1584	c.368C>T	c.(367-369)cCt>cTt	p.P123L	RABGEF1_uc003tvg.3_Missense_Mutation_p.P58L|RABGEF1_uc003tvh.3_Missense_Mutation_p.P250L|RABGEF1_uc010lag.3_Missense_Mutation_p.P250L|RABGEF1_uc011kee.2_Missense_Mutation_p.P264L|RABGEF1_uc003tvi.3_Missense_Mutation_p.P84L	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	467					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGGGTTACGCCTCAGATGCTG	0.478000														72			7		0	0	0.000157383	0	0
TREML1	340205	broad.mit.edu	37	6	41117514	41117514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:41117514C>T	uc011duc.2	-	5	808	c.764G>A	c.(763-765)gGa>gAa	p.G255E	TREML1_uc003opx.3_3'UTR|TREML1_uc011dud.2_Missense_Mutation_p.G144E	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	255	Pro-rich.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTTTTCCTGATGGGGA	0.512000														61			10		0	0	0.000978159	0	0
MYH13	8735	broad.mit.edu	37	17	10247202	10247202	+	Silent	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10247202C>A	uc002gmk.1	-	15	1899	c.1809G>T	c.(1807-1809)ctG>ctT	p.L603L	MYH13_uc010vvf.1_Silent_p.L278L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	603	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.P602P(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGTCTCGTTCAGGGGGTCCT	0.532000														45			10		9.70103e-10	4.42526e-09	0.000673444	1	0
RBM25	58517	broad.mit.edu	37	14	73578259	73578259	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:73578259C>A	uc010ttu.2	+	16	2317	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	RBM25_uc001xno.3_Missense_Mutation_p.P681T|RBM25_uc001xnp.3_Missense_Mutation_p.P476T	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	681					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCTGGTCAGCCTAATTCTGT	0.388000														67			9		1.58986e-06	7.23258e-06	0.000673444	1	0
LARGE	9215	broad.mit.edu	37	22	34046528	34046528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:34046528G>A	uc003and.4	-	3	812	c.233C>T	c.(232-234)gCc>gTc	p.A78V	LARGE_uc003ane.4_Missense_Mutation_p.A78V|LARGE_uc010gwp.3_Missense_Mutation_p.A78V|LARGE_uc011ame.2_Missense_Mutation_p.A10V|LARGE_uc011amf.2_Missense_Mutation_p.A78V	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	78					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTGCGGAGGGCGCGGTTCTC	0.697000														39			12		0	0	0.000978159	0	0
AQP7	364	broad.mit.edu	37	9	33395117	33395117	+	Silent	SNP	G	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:33395117G>T	uc003zst.3	-	2	275	c.103C>A	c.(103-105)Cga>Aga	p.R35R	AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lny.1_Silent_p.R34R|AQP7_uc003zss.3_5'UTR|AQP7_uc011lnz.1_5'UTR|AQP7_uc011loa.1_5'UTR|AQP7_uc011lnx.1_Silent_p.R35R	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	35					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGGAACTCTCGCACCATCTTC	0.587000														39			4		1.23904e-05	5.62126e-05	0.000602214	1	0
AK7	122481	broad.mit.edu	37	14	96916165	96916165	+	Silent	SNP	G	A	A	rs140878553	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:96916165G>A	uc001yfn.2	+	8	941	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	299					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGGCCCTGGGAAAATCCAGA	0.333000														32			8		0	0	0.000673444	0	0
MORN1	79906	broad.mit.edu	37	1	2267927	2267927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:2267927C>T	uc001ajb.1	-	11	1252	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	MORN1_uc009vld.3_Missense_Mutation_p.E387K	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	411										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCAGGAGGCTCCTGTGCCGTG	0.657000														20			9		0	0	0.000673444	0	0
KL	9365	broad.mit.edu	37	13	33638084	33638084	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:33638084C>T	uc001uus.3	+	4	2808	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	934	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCTGCAGATCAGTTTGAGCC	0.448000														99			17		0	0	0.000566183	0	0
PTCRA	171558	broad.mit.edu	37	6	42891008	42891008	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:42891008C>T	uc021yzp.1	+	1	383	c.302C>T	c.(301-303)tCc>tTc	p.S101F	PTCRA_uc011duz.1_Missense_Mutation_p.P112S|PTCRA_uc010jxx.1_Missense_Mutation_p.P62S|PTCRA_uc010jxy.3_Missense_Mutation_p.S76F|PTCRA_uc003osx.3_Missense_Mutation_p.S101F|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	101						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GAGCTGGCATCCTGGGAGCCT	0.627000														54			11		0	0	0.000978159	0	0
KRT34	3885	broad.mit.edu	37	17	39535638	39535638	+	Silent	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39535638G>A	uc002hwm.3	-	4	981	c.969C>T	c.(967-969)gcC>gcT	p.A323A		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	323	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CGATCTCCAGGGCGTTGACTG	0.587000														50			5		0	0	0.00198382	0	0
OR52B4	143496	broad.mit.edu	37	11	4388619	4388619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:4388619C>T	uc010qye.2	-	0	998	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCACCTGTTCCTGGATTTGC	0.398000														24			5		0	0	0.000602214	0	0
CELSR3	1951	broad.mit.edu	37	3	48691120	48691120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:48691120G>A	uc003cuf.1	-	10	5590	c.5590C>T	c.(5590-5592)Cgg>Tgg	p.R1864W	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Missense_Mutation_p.R1794W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1794	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		GCCCGTGTCCGAAATGCCAGC	0.602000														41			13		0	0	0.00136819	0	0
DHX9	1660	broad.mit.edu	37	1	182844081	182844083	+	In_Frame_Del	DEL	GAT	-	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:182844081_182844083delGAT	uc001gpr.3	+	15	1982_1984	c.1807_1809delGAT	c.(1807-1809)gatdel	p.D605del	DHX9_uc001gps.3_In_Frame_Del_p.D391del	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	605					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						tggtggtgaggatgatgatgTAA	0.365													---	61	---	---	10	---					
RNF146	81847	broad.mit.edu	37	6	127608556	127608558	+	In_Frame_Del	DEL	AGA	-	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:127608556_127608558delAGA	uc021zes.1	+	2	934_936	c.798_800delAGA	c.(796-801)ggagaa>gga	p.E268del	RNF146_uc021zet.1_In_Frame_Del_p.E267del|RNF146_uc021zeu.1_In_Frame_Del_p.E267del|RNF146_uc021zev.1_In_Frame_Del_p.E267del|RNF146_uc021zew.1_In_Frame_Del_p.E268del|RNF146_uc003qat.3_In_Frame_Del_p.E267del|RNF146_uc021zex.1_In_Frame_Del_p.E267del|RNF146_uc003qaw.3_In_Frame_Del_p.E267del|RNF146_uc003qau.3_In_Frame_Del_p.E267del|RNF146_uc003qav.3_In_Frame_Del_p.E268del|RNF146_uc021zey.1_In_Frame_Del_p.E267del	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	268					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGGGAGAAGGAGAAGAAGATCAT	0.463													---	44	---	---	8	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													---	209	---	---	7	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:6012690delT	uc003zjr.3	-	0	2951	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_uc011lmf.2_Frame_Shift_Del_p.N621fs|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													---	84	---	---	7	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Frame_Shift_Ins	INS	-	G	G	rs141646579	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:7080210_7080211insG	uc001qsh.4	+	0	267_268	c.124_125insG	c.(124-126)agtfs	p.S42fs	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													---	9	---	---	4	---