Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZZEF1	23140	broad.mit.edu	37	17	3999942	3999942	+	Silent	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3999942T>C	ENST00000381638.2	-	10	1849	c.1725A>G	c.(1723-1725)ggA>ggG	p.G575G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGATTCAGTTCCGGTAGAAA	0.353000													10	123					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236306026	236306026	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:236306026C>G	ENST00000366592.3	+	1	195	c.104C>G	c.(103-105)cCg>cGg	p.P35R	GPR137B_ENST00000366591.4_Missense_Mutation_p.P35R	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	35						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ACGCTGACCCCGGCCGTGCCC	0.716000													17	6					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235590494	235590494	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:235590494C>T	ENST00000543662.1	+	6	606	c.500C>T	c.(499-501)tCa>tTa	p.S167L	TBCE_ENST00000366601.3_Missense_Mutation_p.S167L|TBCE_ENST00000406207.1_Missense_Mutation_p.S167L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	167					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CTGTTGTCATCATGGGATGAA	0.348000													36	19					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484784	128484784	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:128484784G>A	ENST00000325888.8	+	21	3526	c.3265G>A	c.(3265-3267)Ggg>Agg	p.G1089R	FLNC_ENST00000346177.6_Missense_Mutation_p.G1089R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1089					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						CGACACCAAGGGGGCTGGCAC	0.632000													18	45					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991082	134991082	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:134991082G>A	ENST00000535938.1	+	13	1668	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.D501N|SAGE1_ENST00000324447.3_Missense_Mutation_p.D501N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	501										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACCCCAAACTGATAAGGTCAT	0.448000													35	48					0	0	1	0	0
LYZ	4069	broad.mit.edu	37	12	69743970	69743970	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:69743970G>A	ENST00000261267.2	+	2	287	c.219G>A	c.(217-219)ggG>ggA	p.G73G	LYZ_ENST00000549690.1_Silent_p.G73G|LYZ_ENST00000548839.1_Silent_p.G73G	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	73					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CTGATTATGGGATATTTCAGA	0.418000													28	32					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242689687	242689687	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:242689687C>T	ENST00000321264.4	+	7	1184	c.975C>T	c.(973-975)ctC>ctT	p.L325L	D2HGDH_ENST00000403782.1_Silent_p.L191L|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	325					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCGCCATCTCCACCTGGCCA	0.617000													29	51					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:95081348G>A	ENST00000553947.1	+	5	1533	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA3_ENST00000393080.4_Silent_p.G190G|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.G190G|SERPINA3_ENST00000393078.3_Silent_p.G190G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	190					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)		GAACTAGGGGGAAAATCACAG	0.493000													36	62					0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	113999239	113999239	+	Silent	SNP	T	T	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:113999239T>G	ENST00000375430.4	-	5	547	c.501A>C	c.(499-501)atA>atC	p.I167I	GRTP1_ENST00000326039.3_Silent_p.I89I|GRTP1_ENST00000375431.4_Silent_p.I167I			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CATTATTTGTTATAAGAATCA	0.353000													19	52					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85433758	85433758	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:85433758C>T	ENST00000394573.1	+	5	472	c.270C>T	c.(268-270)ctC>ctT	p.L90L	SLC28A1_ENST00000286749.3_Silent_p.L90L|SLC28A1_ENST00000338602.2_Silent_p.L90L|SLC28A1_ENST00000538177.1_Silent_p.L90L|SLC28A1_ENST00000537624.1_Silent_p.L90L|SLC28A1_ENST00000537703.1_Silent_p.L12L|SLC28A1_ENST00000537216.1_Silent_p.L90L	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	90					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGCCTGCTCTGCACTGGTG	0.592000													4	9					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149898276	149898276	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:149898276G>A	ENST00000271628.8	-	3	1282	c.698C>T	c.(697-699)cCt>cTt	p.P233L		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	233						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTGGTGGAGGAAGCCCAGA	0.527000													24	47					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106348	55106348	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:55106348C>T	ENST00000453777.1	+	4	459	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R97C|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	97	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGGCGGTATCGCTGTTTCTA	0.587000													33	49					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370503	17370503	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:17370503G>A	ENST00000252597.3	-	6	980	c.807C>T	c.(805-807)ctC>ctT	p.L269L	USHBP1_ENST00000431146.2_Silent_p.L205L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	269							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AATGGCTGCGGAGGCGCCGAA	0.577000													35	79					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900776	40900776	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:40900776C>T	ENST00000324001.7	-	7	3753	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1161	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACCTGCCTCCCCAAAGCCGG	0.662000													36	71					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166308	15166308	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:15166308G>A	ENST00000427043.3	+	6	896	c.588G>A	c.(586-588)acG>acA	p.T196T	CASP14_ENST00000221740.1_Silent_p.T196T	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	196					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATGTGTTCACGAAGAGGAAAG	0.552000													28	40					0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15794968	15794968	+	Silent	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:15794968A>G	ENST00000318636.3	+	7	886	c.750A>G	c.(748-750)caA>caG	p.Q250Q	CA5B_ENST00000454127.2_Silent_p.Q250Q	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	250					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TTAAGAAGCAACCAGTAGAGG	0.493000													41	89					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130834	151130834	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:151130834G>A	ENST00000367328.1	+	11	1554	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	PLEKHG1_ENST00000358517.2_Silent_p.L414L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	414	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAAGAGACTGATTCTGGAGA	0.478000													12	19					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44949363	44949363	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:44949363C>T	ENST00000261866.7	-	4	815	c.799G>A	c.(799-801)Gac>Aac	p.D267N	SPG11_ENST00000559193.1_Missense_Mutation_p.D267N|SPG11_ENST00000535302.2_Missense_Mutation_p.D267N|SPG11_ENST00000558319.1_Missense_Mutation_p.D267N|SPG11_ENST00000427534.2_Missense_Mutation_p.D267N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	267					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACATCGAGGTCTTGAGAAACT	0.403000													19	22					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886538	6886538	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:6886538C>T	ENST00000203629.2	+	6	1499	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	389	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GACACCCCATCCCAGAGGAGT	0.572000													32	61					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2799265	2799265	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:2799265A>C	ENST00000155840.5	+	15	1900	c.1792A>C	c.(1792-1794)Aag>Cag	p.K598Q	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.K471Q	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	598	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGTAGAAGACAAGGTAGGCTC	0.617000													16	42					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104877854	104877854	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:104877854G>A	ENST00000393141.2	-	3	459	c.428C>T	c.(427-429)aCc>aTc	p.T143I	CASP5_ENST00000393139.2_Missense_Mutation_p.T97I|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.T72I|CASP5_ENST00000526056.1_Missense_Mutation_p.T143I|CASP5_ENST00000260315.3_Missense_Mutation_p.T130I|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	130	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAGTGTTTGGGTAAACATTTG	0.353000													25	61					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													17	384					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40887003	40887003	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:40887003C>A	ENST00000291823.2	-	3	1179	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	299	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CGACTGGCCACACTGCCACCA	0.627000													17	38					2.35188e-11	2.39449e-11	1	1	0
SMAD6	4091	broad.mit.edu	37	15	67073822	67073822	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:67073822C>T	ENST00000288840.5	+	4	2471	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	SMAD6_ENST00000338426.4_Silent_p.F219F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	480	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCCGGCAGTTCATCACCTCCT	0.731000													7	10					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703350	60703350	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:60703350C>T	ENST00000005286.4	+	11	2199	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	TMEM132A_ENST00000453848.2_Silent_p.S681S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	681	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCCCTCTCCCTATGGCTGT	0.622000													39	102					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796783	43796783	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:43796783G>A	ENST00000291532.3	-	11	2016	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S438F|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S351F|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S353F	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	354	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGGACAGGGGAGGCGTCACC	0.597000											OREG0026238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	160					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236903	23236903	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:23236903G>A	ENST00000400191.3	+	14	2549	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	EPHB2_ENST00000374630.3_Missense_Mutation_p.R844Q|EPHB2_ENST00000374632.3_Missense_Mutation_p.R845Q|EPHB2_ENST00000374627.1_Missense_Mutation_p.R839Q	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	844	Protein kinase.		R -> W (in dbSNP:rs55826626).		axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGGACTATCGGCTGCCACCG	0.612000													16	53					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40990965	40990965	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:40990965G>A	ENST00000293362.3	+	8	678	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	PSME3_ENST00000590720.1_Missense_Mutation_p.E160K|PSME3_ENST00000592169.1_Missense_Mutation_p.E104K|PSME3_ENST00000545225.1_Missense_Mutation_p.E99K|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.E171K	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	160					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTTAGGAGGAAACAGTTGC	0.488000													71	153					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532329	124532329	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:124532329T>C	ENST00000357628.3	-	6	713	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	39	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.K39E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCAGTTCCTTTGCTTAGATAT	0.378000													54	120					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2582947	2582947	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:2582947A>T	ENST00000340611.4	-	6	1070	c.814T>A	c.(814-816)Ttc>Atc	p.F272I		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	272					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GAAGAACTGAACACGGGAGAA	0.622000													11	36					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477476	28477476	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:28477476C>T	ENST00000373857.3	-	2	691	c.57G>A	c.(55-57)ccG>ccA	p.P19P	PTAFR_ENST00000305392.3_Silent_p.P19P|PTAFR_ENST00000539896.1_Silent_p.P19P	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	19					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAAACAATCGGGAAGAGAG	0.512000													14	22					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651326	156651326	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:156651326G>A	ENST00000296518.7	+	10	2225	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	GUCY1A3_ENST00000393832.3_Silent_p.K414K|GUCY1A3_ENST00000511108.1_Silent_p.K672K|GUCY1A3_ENST00000455639.2_Silent_p.K672K|GUCY1A3_ENST00000513574.1_Silent_p.K672K|GUCY1A3_ENST00000506455.1_Silent_p.K672K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	672					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCTTCCAAAAGAAAGATGTGG	0.403000													24	33					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459497	56459497	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:56459497G>A	ENST00000291971.3	+	1	300	c.229G>A	c.(229-231)Gag>Aag	p.E77K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E77K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	77	DAPIN.					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)		GGACCAGGTCGAGACAGCCAG	0.532000													10	21					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101502996	101502996	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:101502996C>T	ENST00000370476.5	+	4	409	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	94					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTATTCAGATCGTGAAATTGA	0.433000													49	55					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057193	1057193	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:1057193T>C	ENST00000382251.3	+	5	1935	c.1606T>C	c.(1606-1608)Tcg>Ccg	p.S536P	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.S536P|DMRT2_ENST00000358146.2_Missense_Mutation_p.S536P|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	536					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AACAAAACTCTCGGTGAATGA	0.398000													6	54					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91063862	91063862	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:91063862C>T	ENST00000375859.3	+	3	337	c.59C>T	c.(58-60)gCt>gTt	p.A20V	SPIN1_ENST00000541629.1_Missense_Mutation_p.A20V|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	20					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAGGCCATGCTGGAGTATCT	0.388000													3	31					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287391	16287391	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:16287391G>A	ENST00000343518.6	-	1	546	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	165										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCGGCTCCATGAAAGCGCTGT	0.592000													23	172					0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99083600	99083600	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:99083600G>A	ENST00000253270.7	-	12	1000	c.938C>T	c.(937-939)tCc>tTc	p.S313F	SLC35D2_ENST00000375259.4_Missense_Mutation_p.S225F	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	313						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				TGTTAAAAAGGAATATCTCAA	0.433000													7	61					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436547	6436547	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:6436547G>A	ENST00000449001.2	+	14	2196	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G600R|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.G600R|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.G130R	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	600					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CACCCCCACGGGGTCCCGCTC	0.627000													60	115					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315048	48315048	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:48315048C>T	ENST00000435803.1	+	17	5809	c.5785C>T	c.(5785-5787)Cca>Tca	p.P1929S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1929					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCGTTTGTCCCACCTTCAAT	0.363000													45	104					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43903181	43903181	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:43903181A>G	ENST00000450892.2	-	14	3385	c.3306_splice	c.e14-1	p.V1103_splice	STRC_ENST00000541030.1_Intron	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1103					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCATCTTTAACCTGCATGAG	0.502000													18	71					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757077	56757077	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:56757077C>T	ENST00000326855.2	+	1	731	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAATGTCTTCTAGTGCAGGA	0.428000													32	72					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685780	100685780	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100685780C>T	ENST00000306151.4	+	3	11147	c.11083C>T	c.(11083-11085)Cca>Tca	p.P3695S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3695	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)					AGGAAGCACTCCATTAACAAC	0.522000													58	144					0	0	1	0	0
TFPT	29844	broad.mit.edu	37	19	54617859	54617859	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:54617859T>G	ENST00000391759.1	-	2	650	c.245A>C	c.(244-246)tAc>tCc	p.Y82S	TFPT_ENST00000391757.1_Missense_Mutation_p.Y82S|TFPT_ENST00000391758.1_Missense_Mutation_p.Y73S	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	82					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TAGTGCCTGGTACTTTCTGCG	0.662000			T	TCF3	pre-B ALL								23	70					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734654	110734654	+	Silent	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:110734654T>C	ENST00000331565.4	+	7	1410	c.925T>C	c.(925-927)Ttg>Ctg	p.L309L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	309					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTCTTTGCCTTGGGCCTGGG	0.552000													25	48					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124682	20124682	+	Silent	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:20124682G>T	ENST00000541730.1	-	7	1012	c.417C>A	c.(415-417)gtC>gtA	p.V139V	MBOAT1_ENST00000324607.7_Silent_p.V288V			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	288					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGGCTTGCATGACAACATATA	0.438000													38	60					9.62906e-15	9.85707e-15	1	1	0
IGHV1-2	28474	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:106452697C>T	ENST00000390594.2	-	0	388																											ACGGCCGTGTCGTCAGATCTC	0.557000													88	127					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3007569	3007569	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:3007569C>T	ENST00000381127.1	+	7	1084	c.863C>T	c.(862-864)tCc>tTc	p.S288F	ARSF_ENST00000359361.2_Missense_Mutation_p.S288F|ARSF_ENST00000537104.1_Missense_Mutation_p.S288F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	288						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCTTTTTCTCCTTTCTTCAC	0.433000													31	92					0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38003905	38003905	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:38003905C>T	ENST00000276449.4	-	4	813	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	123	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCACGACCTCCAGCCGGAAC	0.547000													20	42					0	0	1	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215849	168215849	+	RNA	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:168215849C>T	ENST00000358576.4	-	0	732					NR_026844.1															lung(1)	1						CGCAATTTATCTACTGTGCCC	0.388000													19	16					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137729148	137729148	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:137729148G>A	ENST00000183605.5	+	1	307	c.81G>A	c.(79-81)atG>atA	p.M27I	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	27					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CCACCGGGATGGACATGTGGA	0.647000													13	29					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799175	45799175	+	Silent	SNP	G	G	A	rs146049499		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:45799175G>A	ENST00000553795.1	-	4	1004	c.696C>T	c.(694-696)acC>acT	p.T232T	OR13A1_ENST00000536058.1_Silent_p.T232T|OR13A1_ENST00000374401.2_Silent_p.T232T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	232					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						AGGACGCGATGGTCATCAGGA	0.572000													4	42					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178941917	178941917	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:178941917G>T	ENST00000263967.3	+	15	2393	c.2236G>T	c.(2236-2238)Gat>Tat	p.D746Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	746					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGATTTCATGGATGCTCTACA	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	39					3.32936e-07	3.36529e-07	1	1	0
EPHA7	2045	broad.mit.edu	37	6	93965618	93965618	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:93965618G>A	ENST00000369303.4	-	13	2494	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	770	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTTACAAACGAGATTGCTGT	0.418000													19	48					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967493	142967493	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:142967493C>T	ENST00000370494.1	+	1	321	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	97							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGTGGTCCCCAGCCCTGC	0.423000													35	51					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528231	157528231	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:157528231C>T	ENST00000346085.5	+	20	5957	c.5956C>T	c.(5956-5958)Cca>Tca	p.P1986S	ARID1B_ENST00000367148.1_Missense_Mutation_p.P2026S|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1968S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1973S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1973					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACGAGCATCCAGAGAGAAA	0.557000													21	59					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195538626	195538626	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:195538626G>A	ENST00000463781.3	-	1	522	c.63C>T	c.(61-63)ctC>ctT	p.L21L	MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000349607.4_Silent_p.L21L|MUC4_ENST00000475231.1_Silent_p.L21L|MUC4_ENST00000346145.4_Silent_p.L21L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	21					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGCGGAAGGAGGCAGAGAC	0.647000													18	58					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999943	3999943	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3999943C>T	ENST00000381638.2	-	10	1848	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGATTCAGTTCCGGTAGAAAA	0.358000													11	120					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8530352	8530352	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:8530352C>T	ENST00000325495.4	+	6	624	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	HNRNPM_ENST00000348943.3_Intron	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	195					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGAGATTATCCATGCATTACA	0.423000													22	72					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35696432	35696432	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:35696432G>A	ENST00000373664.3	-	3	514	c.448C>T	c.(448-450)Cca>Tca	p.P150S	RBL1_ENST00000344359.3_Missense_Mutation_p.P150S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	150					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCTTCATATGGATTTTGAAAT	0.323000													19	55					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038023	75038023	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:75038023G>A	ENST00000326665.5	-	14	3589	c.3371C>T	c.(3370-3372)tCt>tTt	p.S1124F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1124	Glu-rich.									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						CTCAGCATCAGATCCCATTTC	0.443000													22	42					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020401	90020401	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:90020401C>T	ENST00000268122.4	-	8	1217	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	RHCG_ENST00000544600.1_Silent_p.G383G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	383					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CGGTCCAGTCCCCGTTGAAAC	0.562000													33	75					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641114	57641114	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:57641114C>T	ENST00000254181.4	+	4	1525	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	USP29_ENST00000598197.1_Silent_p.V357V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAAAAAAGTCATTTCAGCAG	0.373000													27	53					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													4	90					4.68919e-08	4.74833e-08	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76556123	76556123	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:76556123C>T	ENST00000307431.8	+	18	3106	c.2721C>T	c.(2719-2721)gtC>gtT	p.V907V	CNTNAP4_ENST00000377504.4_Silent_p.V859V|CNTNAP4_ENST00000476707.1_Silent_p.V911V|CNTNAP4_ENST00000478060.1_Silent_p.V835V|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	908	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGGCATGTCCTGTTACAGC	0.463000													15	26					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27059222	27059222	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:27059222G>A	ENST00000355394.4	-	5	756	c.533C>T	c.(532-534)cCt>cTt	p.P178L	ABI1_ENST00000376134.3_Missense_Mutation_p.P178L|ABI1_ENST00000376160.1_Missense_Mutation_p.P172L|ABI1_ENST00000346832.5_Missense_Mutation_p.P194L|ABI1_ENST00000376140.3_Missense_Mutation_p.P177L|ABI1_ENST00000376138.3_Missense_Mutation_p.P177L|ABI1_ENST00000376170.4_Missense_Mutation_p.P177L|ABI1_ENST00000376142.2_Missense_Mutation_p.P177L|ABI1_ENST00000359188.4_Missense_Mutation_p.P177L|ABI1_ENST00000376137.4_Missense_Mutation_p.P178L|ABI1_ENST00000376139.2_Missense_Mutation_p.P172L|ABI1_ENST00000536334.1_Missense_Mutation_p.P178L|ABI1_ENST00000376166.1_Missense_Mutation_p.P172L|ABI1_ENST00000490841.2_Missense_Mutation_p.P113L			Q8IZP0	ABI1_HUMAN	abl-interactor 1	177					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTGAGTAGGAGGATTTGT	0.398000													22	48					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129098233	129098233	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:129098233C>T	ENST00000249344.2	+	10	1256	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	STRIP2_ENST00000435494.2_Missense_Mutation_p.P406S	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CTCACAGGCACCCCTCTCTGC	0.602000													6	12					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487242	31487242	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:31487242C>T	ENST00000333137.7	+	10	1451	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	SMTN_ENST00000358743.1_Silent_p.P411P|SMTN_ENST00000347557.2_Silent_p.P411P	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	411					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAAGCTGCCCCCAGGAGGAGG	0.697000													7	7					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59944992	59944992	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:59944992G>A	ENST00000444766.3	-	25	3616	c.3541C>T	c.(3541-3543)Cct>Tct	p.P1181S	INTS2_ENST00000251334.6_Missense_Mutation_p.P1173S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1181					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGTACATCAGGATCCATGCTT	0.323000													12	21					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027532	37027532	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:37027532G>A	ENST00000358047.3	+	1	1101	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	350										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCGAGACTGGAGTGTCCCAT	0.637000													39	85					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55026876	55026876	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:55026876G>A	ENST00000371336.3	+	5	845	c.642_splice	c.e5-1	p.G215_splice	CASS4_ENST00000360314.3_Splice_Site_p.G215_splice|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	215					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTCCCACAGGGGCAGGGTGTT	0.502000													24	37					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49936668	49936668	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:49936668G>A	ENST00000296474.3	-	2	1286	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	MST1R_ENST00000344206.4_Missense_Mutation_p.T420I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	420	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCGGCAGCTGGTGTTGGGGCT	0.592000													35	30					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424257	31424257	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:31424257C>T	ENST00000389202.2	+	15	1855	c.1806C>T	c.(1804-1806)gcC>gcT	p.A602A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	602					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGACCTGGCCGTGGGGGCCC	0.672000													22	53					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184297663	184297663	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:184297663C>T	ENST00000330394.2	+	11	2565	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	705	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CACCAAAAGTCGGCCAGTTAT	0.597000													24	66					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713800	143713800	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:143713800G>A	ENST00000264170.4	+	6	722	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R155Q|KYNU_ENST00000375773.2_Missense_Mutation_p.R155Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	155					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACGCCAAAACGATATAAAATT	0.308000													11	23					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182351	134182351	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:134182351C>T	ENST00000431683.2	+	14	1396	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCCGGAGGCCGCCTCCGTGC	0.612000													11	26					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130792756	130792756	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:130792756G>A	ENST00000325390.3	-	0	2572					NR_026758.1																						GAGATTGACGGCTGTATCACC	0.473000													8	24					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519293	43519293	+	Silent	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:43519293G>T	ENST00000401740.1	-	4	1042	c.939C>A	c.(937-939)tcC>tcA	p.S313S	PSG11_ENST00000403486.1_Silent_p.S191S|PSG11_ENST00000306322.7_Silent_p.S191S|PSG11_ENST00000320078.7_Silent_p.S313S			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	313	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCAAGGATGTGGAGCTTTCCT	0.463000													59	84					1.74971e-23	1.79769e-23	1	1	0
SPG7	6687	broad.mit.edu	37	16	89620245	89620245	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:89620245C>T	ENST00000268704.2	+	15	1995	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	660					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCGCCTACTCCATGGTGAAGC	0.662000													29	35					0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104856	88104856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:88104856G>A	ENST00000398392.2	-	1	1603	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	CGGBP1_ENST00000462901.1_Nonsense_Mutation_p.Q91*|CGGBP1_ENST00000309534.6_Nonsense_Mutation_p.Q91*|CGGBP1_ENST00000482016.1_Nonsense_Mutation_p.Q91*			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CTGTTGCACTGAAGAGATGCA	0.468000													26	47					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868414	58868414	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:58868414G>A	ENST00000311044.3	-	3	776	c.588C>T	c.(586-588)ggC>ggT	p.G196G	ZNF497_ENST00000425453.3_Silent_p.G196G|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGAAGGACTTGCCGCAGTCCG	0.682000													7	9					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:196774764C>T	ENST00000312428.6	-	25	4191	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						AAAGAATTTTCCCAAAGCCAA	0.358000													7	26					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419893	180419893	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:180419893C>T	ENST00000342868.6	+	2	314	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	44					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCCCTCTTTCCTGAGACCAG	0.542000													45	13					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507638	219507638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:219507638G>A	ENST00000411696.2	-	7	4380	c.3601C>T	c.(3601-3603)Cag>Tag	p.Q1201*	ZNF142_ENST00000449707.1_Nonsense_Mutation_p.Q1201*			P52746	ZN142_HUMAN	zinc finger protein 142	1201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGGGCACTGATGGGGCTTC	0.622000													22	56					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132198655	132198655	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:132198655C>T	ENST00000261674.4	+	2	399	c.258C>T	c.(256-258)taC>taT	p.Y86Y	SFSWAP_ENST00000541286.1_Silent_p.Y86Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	86					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTCTGAGTACGATGCTGAGT	0.458000													19	32					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2937962	2937962	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:2937962C>T	ENST00000261596.4	-	7	1134	c.896G>A	c.(895-897)cGg>cAg	p.R299Q		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	299					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGAATTACCCGAAAATGAGT	0.413000													26	73					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96073850	96073850	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:96073850T>C	ENST00000515059.1	+	12	1592	c.1309T>C	c.(1309-1311)Tat>Cat	p.Y437H	BMPR1B_ENST00000440890.2_Missense_Mutation_p.Y467H|BMPR1B_ENST00000264568.4_Missense_Mutation_p.Y437H|BMPR1B_ENST00000394931.1_Missense_Mutation_p.Y437H	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	437	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACCCCTCTTATGAGGACAT	0.413000													3	2					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854655	88854655	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:88854655G>A	ENST00000537554.1	-	2	3901	c.339C>T	c.(337-339)ccC>ccT	p.P113P	CNR1_ENST00000369501.2_Silent_p.P113P|CNR1_ENST00000468898.1_Silent_p.P80P|CNR1_ENST00000549716.1_Silent_p.P52P|CNR1_ENST00000549890.1_Silent_p.P113P|CNR1_ENST00000428600.2_Silent_p.P113P|CNR1_ENST00000535130.1_Silent_p.P113P|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.P113P	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	113					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCTGCTGGCTGGGGTTCAGGA	0.552000													18	24					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581341	234581341	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:234581341G>A	ENST00000354728.4	+	1	843	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1												p.R254Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGGTTGTTGCGAACGGACTTT	0.443000													85	190					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359025	24359025	+	Missense_Mutation	SNP	G	G	A	rs146728776		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:24359025G>A	ENST00000175238.6	+	20	2227	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E	ADAM7_ENST00000520720.1_Missense_Mutation_p.G487E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G715E|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAGAACAAAGGATACTTTGGT	0.368000													22	27					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384292	2384292	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:2384292G>A	ENST00000202625.2	+	9	1220	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	TGM6_ENST00000381423.1_Missense_Mutation_p.D387N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	387					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTGGCTCACGATGGCCCCTT	0.617000													47	59					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192166	24192166	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:24192166G>A	ENST00000303531.7	+	13	1602	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	PRKCB_ENST00000321728.7_Missense_Mutation_p.D484N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	484	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAAGATTGCCGATTTTGGCAT	0.468000													29	67					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892022	36892022	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:36892022A>G	ENST00000397224.4	-	7	1709	c.1616T>C	c.(1615-1617)cTc>cCc	p.L539P	FOXRED2_ENST00000397223.4_Missense_Mutation_p.L539P|FOXRED2_ENST00000216187.6_Missense_Mutation_p.L539P|FOXRED2_ENST00000366463.3_Missense_Mutation_p.L91P	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	539					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACCGGTGGGGAGGTATCTATA	0.547000													36	70					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126485	41126485	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:41126485C>T	ENST00000338469.3	-	4	619	c.516G>A	c.(514-516)agG>agA	p.R172R	TREM2_ENST00000373113.3_3'UTR|TREM2_ENST00000373122.4_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	162					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGCTTTTCCTCCCATCAT	0.597000													16	37					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													8	9					0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383656	74383656	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:74383656G>A	ENST00000545180.1	+	8	1953	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SPHK1_ENST00000392496.3_Missense_Mutation_p.E382K|SPHK1_ENST00000592299.1_Missense_Mutation_p.E382K|SPHK1_ENST00000323374.4_Missense_Mutation_p.E468K|SPHK1_ENST00000590959.1_Missense_Mutation_p.E396K			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	382					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						ACCGCCAGAAGAGCCCTTATG	0.657000													8	50					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181517	140181517	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140181517G>A	ENST00000522353.2	+	1	735	c.735G>A	c.(733-735)acG>acA	p.T245T	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T245T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAGAGGACGATCTATAAAG	0.448000													25	16					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829806	26829806	+	Silent	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:26829806T>C	ENST00000215906.5	+	2	663	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	75					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGTGGTACTGTTATCACGTGG	0.637000													28	69					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449255	104449255	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104449255G>A	ENST00000361820.3	-	2	1527	c.927C>T	c.(925-927)agC>agT	p.S309S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	309					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCTGTAGGAAGCTCAAGAGGT	0.483000													19	19					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33487076	33487076	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:33487076C>T	ENST00000254260.3	-	11	1311	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	RHPN2_ENST00000400226.4_Missense_Mutation_p.E275K	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	426	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGCTGGCCTCCCGCACCGAC	0.627000													22	50					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247642	48247642	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:48247642G>A	ENST00000262018.3	+	7	922	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000344627.6_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	296					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACCCTCCTGGTGCCCCTGCT	0.637000													36	64					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618540	122618540	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:122618540C>T	ENST00000377037.2	+	2	508	c.508C>T	c.(508-510)Cca>Tca	p.P170S	MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.6_Intron			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	580	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCAGGTGAGCCAGGCGGGGA	0.612000													3	14					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137729137	137729137	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:137729137G>A	ENST00000183605.5	+	1	296	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	24					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CTGCATCGCGGCCACCGGGAT	0.667000													8	24					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517000													16	26					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:83497758C>T	ENST00000398309.2	-	13	1955	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_ENST00000532653.1_Silent_p.T495T|DLG2_ENST00000524982.1_Silent_p.T495T|DLG2_ENST00000398301.2_Silent_p.T534T|DLG2_ENST00000543673.1_Silent_p.T600T|DLG2_ENST00000531015.1_Silent_p.T462T|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Silent_p.T392T|DLG2_ENST00000537455.1_Silent_p.T249T|DLG2_ENST00000280241.8_Silent_p.T534T|DLG2_ENST00000376104.2_Silent_p.T600T|DLG2_ENST00000330014.6_Silent_p.T434T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	495	PDZ 3.					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)				GTGCTATAATCGTCACTGTCT	0.453000													12	28					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887210	73887210	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:73887210G>A	ENST00000269383.3	-	6	1269	c.1204C>T	c.(1204-1206)Ccg>Tcg	p.P402S		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	402	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCAGTTGCGGGTAGGAGACG	0.677000													23	57					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70806888	70806888	+	Silent	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:70806888A>G	ENST00000358731.4	+	17	4232	c.3969A>G	c.(3967-3969)ctA>ctG	p.L1323L	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1323	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAACGAGCTAGAGGAGACCA	0.418000													26	33					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896493	24896493	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:24896493G>A	ENST00000396432.2	-	11	3105	c.2619C>T	c.(2617-2619)aaC>aaT	p.N873N	ARHGAP21_ENST00000320481.6_Silent_p.N660N|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	872					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTTGAGTTGGGCTGAG	0.358000													18	43					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960920	73960920	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:73960920T>C	ENST00000373468.1	-	3	4123	c.3472A>G	c.(3472-3474)Aca>Gca	p.T1158A	KIAA2022_ENST00000055682.5_Missense_Mutation_p.T1158A			Q5QGS0	K2022_HUMAN	KIAA2022	1158					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATTAAATGTTGACAGGCAA	0.388000													25	57					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149898277	149898277	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:149898277G>A	ENST00000271628.8	-	3	1281	c.697C>T	c.(697-699)Cct>Tct	p.P233S		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	233						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCTGGTGGAGGAAGCCCAGAC	0.532000													24	47					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501815	28501815	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:28501815C>T	ENST00000412168.2	+	5	626	c.537C>T	c.(535-537)atC>atT	p.I179I	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	179					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCCATGACATCCGTTGGAACT	0.512000													37	94					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396274	8396274	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:8396274C>T	ENST00000360416.3	-	33	4416	c.4278G>A	c.(4276-4278)aaG>aaA	p.K1426K	MYH10_ENST00000396239.1_Silent_p.K1416K|MYH10_ENST00000379980.4_Silent_p.K1411K|MYH10_ENST00000269243.4_Silent_p.K1395K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1395					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCAGAAGCTTCTTCTTGGCTT	0.522000													29	78					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011013	74011013	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:74011013C>T	ENST00000301607.3	-	17	2459	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	EVPL_ENST00000586740.1_Missense_Mutation_p.D758N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	736	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGCTGGTCCCCTACGGCG	0.652000													19	31					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56474095	56474095	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:56474095G>A	ENST00000370754.5	-	39	5231	c.5232C>T	c.(5230-5232)gtC>gtT	p.V1744V	DST_ENST00000312431.6_Silent_p.V1566V|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.V1566V|DST_ENST00000446842.2_Silent_p.V1240V|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.V1566V|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1566					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGACTGAAAGGACTTCTCCAG	0.433000													77	144					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50114462	50114462	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:50114462C>T	ENST00000443081.1	+	21	3791	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	RBM6_ENST00000422955.1_Missense_Mutation_p.P568S|RBM6_ENST00000266022.4_Missense_Mutation_p.P1090S|RBM6_ENST00000539992.1_Missense_Mutation_p.P432S|RBM6_ENST00000442092.1_Missense_Mutation_p.P568S|RBM6_ENST00000421682.1_Missense_Mutation_p.P86S			P78332	RBM6_HUMAN	RNA binding motif protein 6	1090					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATGAGGGGCCCCAGTGTTGG	0.483000													9	6					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46893151	46893151	+	Silent	SNP	G	G	A	rs151261586		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:46893151G>A	ENST00000378623.1	-	31	4859	c.4617C>T	c.(4615-4617)atC>atT	p.I1539I	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1539					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCACTCTCGATCCGGTCCA	0.567000													5	13					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149826472	149826472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:149826472G>A	ENST00000370396.2	+	11	1286	c.1232G>A	c.(1231-1233)tGg>tAg	p.W411*	MTM1_ENST00000543350.1_Nonsense_Mutation_p.W296*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Nonsense_Mutation_p.W374*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.W316*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	411	Myotubularin phosphatase.		W -> C (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAAAGAATGGATAAGTTTT	0.368000													17	39					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169340516	169340516	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:169340516G>A	ENST00000511577.1	-	19	2794	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	DDX60L_ENST00000260184.7_Silent_p.I849I|DDX60L_ENST00000505890.1_Silent_p.I849I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	849	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAGCAACAGGATTTCAAAAC	0.358000													2	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179622644	179622644	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:179622644C>T	ENST00000589042.1	-	45	10528		c.e45-1		TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTGCTAAATCCTGAAAAGAAG	0.363000													20	54					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377618	19377618	+	Silent	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19377618G>T	ENST00000379806.5	+	12	1279	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	PDHA1_ENST00000545074.1_Silent_p.V347V|PDHA1_ENST00000379804.1_Silent_p.V59V|PDHA1_ENST00000422285.2_Silent_p.V340V|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000540249.1_Silent_p.V309V	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	340			R -> H (in X-LS; PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	AAATTGATGTGGAAGTGAGGA	0.488000													40	71					5.20006e-24	5.35244e-24	1	1	0
FREM1	158326	broad.mit.edu	37	9	14859437	14859437	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:14859437G>A	ENST00000380881.4	-	5	1190	c.375C>T	c.(373-375)gtC>gtT	p.V125V	FREM1_ENST00000422223.2_Silent_p.V125V|FREM1_ENST00000380880.3_Silent_p.V125V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	125					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGAGATAGACCCACAGGA	0.403000													49	53					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739548	129739548	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:129739548G>A	ENST00000446488.3	-	23	3475	c.3372C>T	c.(3370-3372)gtC>gtT	p.V1124V	NFRKB_ENST00000304521.5_Silent_p.V1124V|NFRKB_ENST00000524794.1_Silent_p.V1149V|NFRKB_ENST00000524746.1_Silent_p.V1124V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1124					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGAAGTATGGACAGTTCCAG	0.592000													22	55					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229679	21229679	+	Missense_Mutation	SNP	G	G	A	rs61742331	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:21229679G>A	ENST00000233242.1	-	26	10188	c.10061C>T	c.(10060-10062)gCt>gTt	p.A3354V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3354					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAAAGTTCAGCATTGGTATT	0.373000													21	64					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11584153	11584153	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:11584153C>T	ENST00000262442.3	+	19	3758	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	DNAH9_ENST00000454412.2_Silent_p.F1230F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1230	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACAGCCTTCGATGCAGAAC	0.522000													4	11					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194636	29194636	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:29194636G>A	ENST00000240100.2	-	4	1481	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DUSP4_ENST00000240101.2_Silent_p.F273F	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	364	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGCTGAAGACGAACTGCGAGG	0.701000													3	13					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53112065	53112065	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:53112065G>A	ENST00000375442.4	+	1	517	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	129					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGGGAGCCTGGAAATCGATTT	0.637000													5	21					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30518079	30518079	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:30518079G>A	ENST00000356798.6	+	21	2590	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E720K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	804					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTCTCTGTGGAGCTGAGCCT	0.567000													120	262					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125025711	125025711	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:125025711C>T	ENST00000522917.1	+	15	2068	c.1862C>T	c.(1861-1863)tCa>tTa	p.S621L	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S621L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	621						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCAAGATTTCACAGGAGGCA	0.483000													30	66					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306935	14306935	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:14306935G>A	ENST00000378053.3	-	2	1474	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.P406P	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	406	Fibronectin type-III.				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)		TTTTTCTTGAGGGACTCCCTG	0.458000													47	132					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546638	11546638	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:11546638C>T	ENST00000389362.4	-	3	409	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.612000													25	567					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632595	48632595	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:48632595C>T	ENST00000006658.6	+	16	2280	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.I660I|SPATA20_ENST00000356488.4_Silent_p.I704I	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	704					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGTCAGATCGTGATCTGTG	0.592000													10	22					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148982	34148982	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:34148982C>T	ENST00000346193.3	-	1	1465	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	472										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCTGAGTCTCGGGAGGCTGC	0.607000													27	57					0	0	1	0	0
AC005754.7	0	broad.mit.edu	37	5	140480201	140480201	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140480201G>A	ENST00000607216.1	-	0	208																											TCAGCTTGGCGACATTCCCTG	0.512000													16	15					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1486953	1486953	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:1486953C>T	ENST00000300954.5	-	8	1028	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	323	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGCTGCCCACGGAAAGC	0.672000													19	68					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018229	23018229	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23018229G>A	ENST00000327968.5	+	1	143	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	19						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGAGACCTTGGGGCCAGCTG	0.637000													11	15					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854623	4854623	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:4854623G>A	ENST00000252318.2	+	5	1226	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	297						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCGGATTCAGGAGGACCGCAC	0.478000													19	29					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994698	11994698	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:11994698C>T	ENST00000333796.3	-	1	1888	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	524					apoptosis|cell cycle|G2/M transition checkpoint|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						CAAGCAGAGCCCTCTTGCTGT	0.582000													15	71					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775565	77775565	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:77775565C>T	ENST00000268533.5	+	4	504	c.435C>T	c.(433-435)ttC>ttT	p.F145F	NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Silent_p.F92F|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	145	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AGGATGTATTCCTGGTGCCTC	0.433000													6	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179401241	179401241	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:179401241C>T	ENST00000589042.1	-	357	100457	c.100233G>A	c.(100231-100233)gtG>gtA	p.V33411V	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.V30843V|TTN_ENST00000591111.1_Silent_p.V31770V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.V24538V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V24471V|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.V24346V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31770							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)			GCTTCCAGGCCACAACACAAG	0.408000													25	35					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791283	237791283	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:237791283G>A	ENST00000366574.2	+	41	6660	c.6343G>A	c.(6343-6345)Gac>Aac	p.D2115N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2113N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2099N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2115	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCGTGGAGGACACCATCAA	0.532000													30	20					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975799	152975799	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152975799C>T	ENST00000331860.3	+	3	453	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SPRR3_ENST00000542696.1_Silent_p.V93V|SPRR3_ENST00000295367.4_Silent_p.V101V	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	101	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.582000													32	38					0	0	1	0	0
IGHJ5	28476	broad.mit.edu	37	14	106330029	106330029	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:106330029G>A	ENST00000488476.1	-	0	43																											CTCACCTGAGGAGACGGTGAC	0.602000													3	13					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18375751	18375751	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:18375751G>A	ENST00000392413.3	-	3	2814	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	KIAA1683_ENST00000600328.2_Missense_Mutation_p.P867S|KIAA1683_ENST00000600359.2_Missense_Mutation_p.P821S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	867						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTGGCAGGGCACCGCCTGG	0.647000													24	25					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060863	201060863	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:201060863G>A	ENST00000362061.3	-	5	825	c.599C>T	c.(598-600)gCc>gTc	p.A200V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A200V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	200					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACCAGCAGGGCGATGTGAAA	0.557000													26	17					0	0	1	0	0
IFNA13	3447	broad.mit.edu	37	9	21367982	21367982	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:21367982T>A	ENST00000449498.1	-	1	93	c.28A>T	c.(28-30)Atg>Ttg	p.M10L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	9			V -> A (in dbSNP:rs1758567).		blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ACCAGGGCCATCAGTAAAGCA	0.552000													34	50					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56585388	56585388	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:56585388C>T	ENST00000267460.4	+	1	296	c.10C>T	c.(10-12)Cct>Tct	p.P4S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	4					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CATGTTTTCCCCTGGCCAGGA	0.726000													4	5					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900777	40900777	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:40900777C>T	ENST00000324001.7	-	7	3752	c.3482G>A	c.(3481-3483)gGg>gAg	p.G1161E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1161	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCTGCCTCCCCAAAGCCGGT	0.662000													37	71					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:65527628G>A	ENST00000310193.3	-	4	1185	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000													26	58					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77221367	77221367	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:77221367G>A	ENST00000253506.5	+	7	2328		c.e7+1		NFATC1_ENST00000545796.1_Splice_Site|NFATC1_ENST00000542384.1_Splice_Site|NFATC1_ENST00000318065.5_Splice_Site|NFATC1_ENST00000427363.2_Splice_Site|NFATC1_ENST00000397790.2_Splice_Site|NFATC1_ENST00000587635.1_Splice_Site|NFATC1_ENST00000329101.4_Splice_Site|NFATC1_ENST00000592223.1_Splice_Site|NFATC1_ENST00000591814.1_Splice_Site|NFATC1_ENST00000586434.1_Splice_Site	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGCAAGCCGGTGAGTGCCTT	0.632000													8	34					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5974946	5974946	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:5974946T>C	ENST00000378896.3	+	19	2809	c.2430_splice	c.e19-1	p.V811_splice	MCM8_ENST00000378883.1_Splice_Site_p.V764_splice|MCM8_ENST00000378886.2_Splice_Site_p.V851_splice|MCM8_ENST00000265187.4_Splice_Site_p.V795_splice	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	811					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCTTCCAGGTTGCTGATTTT	0.303000													14	23					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260943	4260943	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:4260943G>A	ENST00000404826.2	+	40	5913	c.5774G>A	c.(5773-5775)gGa>gAa	p.G1925E	SDK1_ENST00000389531.3_Missense_Mutation_p.G1905E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1925	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGACTGAGGGACACTCTGGC	0.627000													7	20					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19425358	19425358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19425358C>T	ENST00000338883.4	-	13	1791	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	MAP3K15_ENST00000469203.2_Missense_Mutation_p.D430N|MAP3K15_ENST00000359173.3_Missense_Mutation_p.D33N|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	598							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCAGAATTATCATGGACATAA	0.338000													12	33					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143080289	143080289	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:143080289C>T	ENST00000322764.5	+	5	1242	c.897C>T	c.(895-897)ccC>ccT	p.P299P	ZYX_ENST00000449423.2_Silent_p.P212P|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Silent_p.P142P	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	299					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGGGCACCCCGAAGCTCTTT	0.572000													29	38					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87607726	87607726	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:87607726C>T	ENST00000398204.4	+	3	645	c.323_splice	c.e3+1	p.H108_splice	ADAM22_ENST00000439864.1_Splice_Site_p.H108_splice|ADAM22_ENST00000315984.7_Splice_Site_p.H108_splice|ADAM22_ENST00000398209.3_Splice_Site_p.H108_splice|ADAM22_ENST00000398201.4_Splice_Site_p.H108_splice|ADAM22_ENST00000265727.7_Splice_Site_p.H108_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	108					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGTGCTAAATCAGTAAGTGTT	0.353000													11	24					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977203	16977203	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:16977203G>A	ENST00000379803.1	+	13	1752	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SIN3B_ENST00000248054.5_Missense_Mutation_p.E548K|SIN3B_ENST00000595541.1_Missense_Mutation_p.E138K	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	580	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGGAAGAGGAGTGGCGGGA	0.607000													21	42					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189504	59189504	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:59189504C>T	ENST00000302040.4	-	1	945	c.923G>A	c.(922-924)aGg>aAg	p.R308K		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCGGGGTCCCTTTCCATGGC	0.433000													42	75					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675168	3675168	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:3675168G>A	ENST00000344754.4	-	12	2955	c.2956C>T	c.(2956-2958)Cac>Tac	p.H986Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H986Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	986	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGTGTGACGTGGCGTGGGGCA	0.662000													3	13					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30696710	30696710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:30696710C>T	ENST00000394670.4	+	12	1586	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	ZNF207_ENST00000321233.6_Nonsense_Mutation_p.Q457*|ZNF207_ENST00000577908.1_Nonsense_Mutation_p.Q473*|ZNF207_ENST00000394673.2_Nonsense_Mutation_p.Q442*|ZNF207_ENST00000342555.6_Nonsense_Mutation_p.Q476*|ZNF207_ENST00000341711.6_Nonsense_Mutation_p.Q374*	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	457						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCCCCCTTACCAGGGTGGGCC	0.542000													13	24					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	69					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26802210	26802210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:26802210C>T	ENST00000409392.1	+	5	574	c.472C>T	c.(472-474)Cga>Tga	p.R158*	C2orf70_ENST00000329615.3_Silent_p.P170P			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GACTAGCCCCCGAGAACCTGA	0.537000													16	29					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	701848	701848	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:701848C>T	ENST00000549091.1	+	9	954	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	WDR90_ENST00000293879.4_Missense_Mutation_p.P288S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	288										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCCTTGGCACCCAGGCCCTT	0.677000													14	22					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55020268	55020268	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:55020268C>T	ENST00000301202.2	+	4	510	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	130						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCCGGACTCCCCGGACACAGA	0.627000													11	31					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368064	37368064	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37368064T>A	ENST00000529555.1	+	2	1120	c.332T>A	c.(331-333)aTt>aAt	p.I111N	ZNF345_ENST00000589046.1_Missense_Mutation_p.I111N|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.I111N|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	111					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCAAAGAATTCATACTGGT	0.423000													18	23					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160033010	160033010	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:160033010C>T	ENST00000263635.6	+	13	2120	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	TANC1_ENST00000454300.1_Missense_Mutation_p.T522I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	628						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGATTGTGACTGTAAGAGCA	0.318000													12	35					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1339973	1339973	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:1339973C>A	ENST00000300574.2	-	2	858	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_Intron|CRK_ENST00000398970.5_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	240	SH3 2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATAACCCTGGCATATATGGGC	0.572000													38	76					3.54561e-26	3.6562e-26	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127824173	127824173	+	Silent	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:127824173G>T	ENST00000368679.4	-	5	714	c.405C>A	c.(403-405)ctC>ctA	p.L135L	ADAM12_ENST00000368676.4_Silent_p.L135L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	135					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AACACGTGCTGAGACTGACTG	0.488000													15	15					2.94398e-08	2.9865e-08	1	1	0
FAM194A	131831	broad.mit.edu	37	3	150421557	150421557	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:150421557C>T	ENST00000295910.6	-	1	181	c.129G>A	c.(127-129)gaG>gaA	p.E43E	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	43	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cttcctcctcctcctccacct	0.612000													4	11					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616835	1616835	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:1616835C>T	ENST00000421627.2	+	6	2045	c.1911C>T	c.(1909-1911)atC>atT	p.I637I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	716					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)		GCTCCTCCATCGGGATTCAGG	0.632000													3	1					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9861129	9861129	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:9861129C>T	ENST00000256190.8	-	26	3508	c.3371G>A	c.(3370-3372)gGa>gAa	p.G1124E	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1124	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTTATGGTTCCTAAACCTAA	0.483000													53	75					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056388	17056388	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:17056388C>T	ENST00000443236.1	-	22	2936	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	922						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGACGTGATCCACCCCGATG	0.592000													16	50					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198969	86198969	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:86198969C>T	ENST00000361228.3	-	2	1187	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	273					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTAATATTTCAGTCGTTCTT	0.403000													30	55					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765524	7765524	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:7765524G>A	ENST00000358415.4	+	9	1144	c.978G>A	c.(976-978)atG>atA	p.M326I	ITIH2_ENST00000379587.4_Missense_Mutation_p.M315I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	326	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGTTAAAATGAAACAAGTAA	0.453000													24	35					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785495	37785495	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:37785495C>T	ENST00000314103.4	+	12	1526	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	459					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGTCAAAAGCCCCTTGCCGGG	0.632000													12	15					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52585208	52585208	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:52585208T>A	ENST00000591504.1	-	10	1083	c.809A>T	c.(808-810)aAt>aTt	p.N270I	CCDC68_ENST00000432185.1_Missense_Mutation_p.N270I|CCDC68_ENST00000337363.4_Missense_Mutation_p.N270I	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	270										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCTTTTAAATTATTTTTTAA	0.328000													3	11					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881390	69881390	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:69881390C>T	ENST00000358913.5	+	2	683	c.195C>T	c.(193-195)gcC>gcT	p.A65A	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.A65A|MYPN_ENST00000540630.1_Silent_p.A65A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	65	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATCTTTCAGCCTTTCTGAGCC	0.522000													15	25					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391029	169391029	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:169391029C>T	ENST00000545005.1	-	4	1147	c.640G>A	c.(640-642)Gat>Aat	p.D214N	CCDC181_ENST00000367805.3_Missense_Mutation_p.D214N|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.D214N					coiled-coil domain containing 181																		ATTGTCCTATCCTTGTTTTCT	0.368000													44	27					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100867053	100867053	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100867053C>T	ENST00000305105.2	+	4	901	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	125							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTCCCATCCCCCTACACCTG	0.657000													17	59					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140325754	140325754	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:140325754C>T	ENST00000341349.2	+	8	945	c.765C>T	c.(763-765)gtC>gtT	p.V255V	NOXA1_ENST00000392815.2_Silent_p.V199V	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	255					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		AGACAGAGGTCGGTGCTGACC	0.672000													4	57					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207621695	207621695	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:207621695C>T	ENST00000374412.3	-	4	615	c.340G>A	c.(340-342)Gca>Aca	p.A114T	MDH1B_ENST00000454776.2_Missense_Mutation_p.A114T|MDH1B_ENST00000392214.2_Missense_Mutation_p.A114T|MDH1B_ENST00000449792.1_Missense_Mutation_p.A16T	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	114					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TCTATATGTGCCCCCAGGTTC	0.438000													20	52					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:20496630G>A	ENST00000555186.1	+	0	683					NR_038836.1																						TCATGAAGGGGAAGCCGAGGG	0.438000													10	64					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295742	212295742	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:212295742C>T	ENST00000342788.4	-	21	2881	c.2571G>A	c.(2569-2571)gtG>gtA	p.V857V	ERBB4_ENST00000402597.1_Silent_p.V847V|ERBB4_ENST00000436443.1_Silent_p.V857V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	857	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGTGATTTTCACATGGTTTG	0.423000										TSP Lung(8;0.080)			27	58					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687661	11687661	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:11687661C>T	ENST00000262442.3	+	41	7934	c.7866C>T	c.(7864-7866)gcC>gcT	p.A2622A	DNAH9_ENST00000454412.2_Silent_p.A2622A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2622	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCAGATGCCCTGTCCTCTA	0.547000													79	155					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643208	7643208	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:7643208G>A	ENST00000572933.1	+	9	2788	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G443E|DNAH2_ENST00000082259.3_Missense_Mutation_p.G525E|DNAH2_ENST00000570791.1_Missense_Mutation_p.G525E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	443	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGTTCGCGGGGGTATCCTG	0.542000													11	28					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	20					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562688	22562688	+	Missense_Mutation	SNP	G	G	A	rs142412986	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:22562688G>A	ENST00000419308.2	-	2	1376	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	FOXA2_ENST00000377115.4_Missense_Mutation_p.H392Y|FOXA2_ENST00000319993.4_Missense_Mutation_p.H398Y	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	392	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					tggtggtggtggctgtggtgg	0.617000													14	26					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101096500	101096500	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:101096500G>A	ENST00000537026.1	-	6	630	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	NXF5_ENST00000473265.2_Missense_Mutation_p.P91S|NXF5_ENST00000361708.2_Missense_Mutation_p.P91S	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	91	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACAGAGTAGGGCGCAGTAAAA	0.473000													29	48					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132360973	132360973	+	Missense_Mutation	SNP	C	C	T	rs144771431	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:132360973C>T	ENST00000264990.6	-	4	1351	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.R127Q|ACAD11_ENST00000355458.3_Missense_Mutation_p.R127Q	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACGGAAGATTCGACCCTATGG	0.348000													27	35					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189503	59189503	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:59189503C>T	ENST00000302040.4	-	1	946	c.924G>A	c.(922-924)agG>agA	p.R308R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCCCGGGGTCCCTTTCCATGG	0.428000													42	75					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98984307	98984307	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:98984307C>T	ENST00000558256.1	-	6	701	c.452G>A	c.(451-453)gGc>gAc	p.G151D	FAM169B_ENST00000332908.4_Missense_Mutation_p.G151D	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	151										large_intestine(3)|lung(3)|urinary_tract(1)	7						TACCTTGCTGCCGTCTCCAGG	0.557000													18	27					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362155	25362155	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:25362155G>A	ENST00000255324.5	+	7	693	c.641G>A	c.(640-642)aGa>aAa	p.R214K	RNF17_ENST00000381921.1_Missense_Mutation_p.R214K|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.R215K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	214					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAATTTGCAAGAACTACTGAT	0.269000													14	35					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66568121	66568121	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:66568121C>T	ENST00000360962.4	+	7	734	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	C11orf80_ENST00000346672.4_Missense_Mutation_p.H88Y|C11orf80_ENST00000527634.1_Missense_Mutation_p.H24Y|C11orf80_ENST00000532565.2_Missense_Mutation_p.H24Y|C11orf80_ENST00000540737.1_Missense_Mutation_p.H77Y|C11orf80_ENST00000525449.2_Missense_Mutation_p.H88Y|C11orf80_ENST00000527368.1_3'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	88										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTCAGATTTCATTTCAGTGT	0.353000													6	8					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559075	129559075	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:129559075G>A	ENST00000422113.2	-	9	2971	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.P420L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	882						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGGTCGCTGGGGATGGTCTG	0.572000													19	36					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315755	125315755	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:125315755C>T	ENST00000373688.2	+	1	365	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGCCAACATTCATACCCAGAG	0.493000													8	144					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1540589	1540589	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:1540589G>A	ENST00000534940.1	-	9	1258	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ASMTL_ENST00000381317.3_Missense_Mutation_p.H403Y|ASMTL_ENST00000381333.4_Missense_Mutation_p.H387Y|ASMTL_ENST00000416733.2_Missense_Mutation_p.H327Y	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	403	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACGCCCTGTGGTGCTGGTTT	0.507000													35	90					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4579795	4579795	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:4579795C>A	ENST00000301396.4	-	7	935	c.710G>T	c.(709-711)tGt>tTt	p.C237F	PELP1_ENST00000572293.1_Missense_Mutation_p.C287F|PELP1_ENST00000574876.1_Missense_Mutation_p.C237F|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.C90F|PELP1_ENST00000269230.7_Missense_Mutation_p.C237F			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	237					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ATAACACTCACAGGCCAACTG	0.582000													7	27					1.26484e-09	1.28543e-09	1	1	0
SVIL	6840	broad.mit.edu	37	10	29812503	29812503	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:29812503C>T	ENST00000375398.2	-	17	3489	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	SVIL_ENST00000375400.3_Missense_Mutation_p.E588K|SVIL_ENST00000355867.4_Missense_Mutation_p.E1014K			O95425	SVIL_HUMAN	supervillin	1014					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.E1014K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTTCGGTTCATCCCCGAGG	0.512000													19	36					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286406	152286406	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152286406C>T	ENST00000368799.1	-	3	991	c.956G>A	c.(955-957)aGa>aAa	p.R319K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	319	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R319T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATGGTTTCTGGAAGCCGA	0.567000									Ichthyosis				111	237					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734581	52734581	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:52734581G>A	ENST00000306051.2	+	1	151	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	PTGDR_ENST00000553372.1_Missense_Mutation_p.G17S	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	17						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGTGGAAAAAGGCAACTCGGC	0.692000													7	11					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161155081	161155081	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161155081C>T	ENST00000308192.9	+	13	1705	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	548	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACGACAAATCCAAGAAAACT	0.458000													14	48					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115066	119115066	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:119115066C>T	ENST00000328252.3	+	16	4415	c.4046C>T	c.(4045-4047)cCa>cTa	p.P1349L	PAPPA_ENST00000534838.1_Missense_Mutation_p.P387L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1349	Sushi 3.				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						TGCCTCGCTCCACCCCCTGTG	0.582000													17	28					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68695368	68695368	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:68695368C>T	ENST00000423218.2	-	2	148	c.52_splice	c.e2-1	p.G18_splice	ITGA11_ENST00000315757.7_Splice_Site_p.G18_splice			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	18					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTCCGTGAACCCTGAGGCAGG	0.607000													6	10					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639546	7639546	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7639546G>A	ENST00000359156.4	-	9	2289	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163_ENST00000396620.3_Missense_Mutation_p.S729L|CD163_ENST00000541972.1_Missense_Mutation_p.S684L|CD163_ENST00000432237.2_Missense_Mutation_p.S696L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	696					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S696L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCAAAGACGATGAATTGCA	0.438000													8	24					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243507	47243507	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:47243507C>T	ENST00000300404.2	+	9	1225	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.S329F|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.S303F	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	389					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTGGCCATATCTCAGGTCACC	0.463000													17	36					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16724025	16724025	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:16724025G>A	ENST00000417510.1	-	0	641																											TCTGCAGAAGGACATTGGCAT	0.532000													7	21					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75975074	75975074	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:75975074C>T	ENST00000308508.5	-	7	4749	c.4657G>A	c.(4657-4659)Gat>Aat	p.D1553N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1553	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGCCTCCATCCAGGGTTCCT	0.687000													15	49					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015347	110015347	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:110015347C>T	ENST00000309415.6	+	4	1247	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	416							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GATCCCCGAGCCGCGGCCAGG	0.627000													8	18					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966102	2966102	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:2966102G>A	ENST00000575751.1	-	1	799	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GTCCTTCATGGAGTAGGTATG	0.502000													9	69					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14181658	14181658	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:14181658G>A	ENST00000382080.1	-	3	1005	c.290C>T	c.(289-291)tCt>tTt	p.S97F	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	84					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TAGAAACTCAGATATACCTTC	0.348000													18	39					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256186	77256186	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:77256186C>T	ENST00000248594.6	+	13	1462	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PTPN12_ENST00000435495.2_Missense_Mutation_p.S267L|PTPN12_ENST00000415482.2_Missense_Mutation_p.S278L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	397	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CATATGGTTTCATCAGAACAA	0.398000													19	24					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760698	21760698	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:21760698G>A	ENST00000382254.1	-	13	2688	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	CDH12_ENST00000522262.1_Silent_p.I494I|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.I534I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	534	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATTTGGTTTGATAGCAGCCT	0.393000										HNSCC(59;0.17)			27	30					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:50705414C>T	ENST00000442544.2	+	9	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R156*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R349*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	501	Fibronectin type-III 1.				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)		GTACACCTTTCGAGTTGTGGC	0.507000													14	21					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586107	120586107	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:120586107C>T	ENST00000300648.6	-	37	4602	c.4590G>A	c.(4588-4590)aaG>aaA	p.K1530K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1530					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGACAGCTGCTTAGGAGCAC	0.557000													12	22					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528523	169528523	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:169528523C>T	ENST00000367796.3	-	5	799	c.598G>A	c.(598-600)Gag>Aag	p.E200K	F5_ENST00000367797.3_Missense_Mutation_p.E200K|F5_ENST00000546081.1_Missense_Mutation_p.E63K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	200	F5/8 type A 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCCCACCCTCAGTTAGGGTC	0.448000													33	23					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2096347	2096347	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:2096347G>A	ENST00000219066.1	-	2	178	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	54					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGCTTCACGGGGCTGTGGCTT	0.622000								Base excision repair (BER), DNA glycosylases					26	48					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154033515	154033515	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:154033515G>A	ENST00000368559.3	-	19	2722	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	NUP210L_ENST00000271854.3_Missense_Mutation_p.S884F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	884						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGGCAAGTTGGAAATTTCCTA	0.428000													59	74					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170276	59170276	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:59170276T>C	ENST00000262717.4	+	5	1150	c.752T>C	c.(751-753)cTt>cCt	p.L251P	CDH20_ENST00000538374.1_Missense_Mutation_p.L251P|CDH20_ENST00000536675.2_Missense_Mutation_p.L251P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGGCAGCTTGGAGGATTA	0.498000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	87					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958353	40958353	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:40958353G>A	ENST00000313164.9	+	11	1838	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTCGTAGGGAATCAAGCAG	0.488000													13	16					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77126357	77126357	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:77126357C>T	ENST00000358075.6	-	3	520	c.434G>A	c.(433-435)aGg>aAg	p.R145K	MAGT1_ENST00000373336.3_Missense_Mutation_p.R113K	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	113					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAAAATATCCTGTTGGTGAA	0.368000													29	62					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4774808	4774808	+	Silent	SNP	G	G	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:4774808G>C	ENST00000304283.4	-	6	810	c.516C>G	c.(514-516)ccC>ccG	p.P172P	ANKS3_ENST00000585773.1_Silent_p.P99P|ANKS3_ENST00000592711.1_Silent_p.P65P|ANKS3_ENST00000446014.2_Silent_p.P43P|ANKS3_ENST00000450067.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	172										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTTCCATCAAGGGAGTAAATC	0.463000													6	25					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79378234	79378234	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:79378234G>A	ENST00000350881.2	+	21	2880	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.R806Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	897	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGCAGGGTACGATTTTATGAA	0.562000													30	78					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397738	23397738	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23397738C>T	ENST00000379361.4	+	2	1242	c.382C>T	c.(382-384)Cca>Tca	p.P128S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	128					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCCAGGTTCCAAGGCCTGG	0.393000													25	43					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850273	73850273	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:73850273C>T	ENST00000523207.1	+	3	3271	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	895					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCAGAAATTCATTCCAACCC	0.398000													36	72					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875372	219875372	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:219875372C>T	ENST00000341552.5	-	26	4287	c.4204G>A	c.(4204-4206)Gga>Aga	p.G1402R	CCDC108_ENST00000453220.1_Missense_Mutation_p.G1402R|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1402R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1402						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGCCCACTCCCTGGAAGTGG	0.602000													5	18					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137729136	137729136	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:137729136G>A	ENST00000183605.5	+	1	295	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	23					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTGCATCGCGGCCACCGGGA	0.662000													8	24					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684474	33684474	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:33684474A>G	ENST00000346562.2	+	2	211	c.137A>G	c.(136-138)aAg>aGg	p.K46R	NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.K76R|NPAS3_ENST00000551492.1_Missense_Mutation_p.K83R|NPAS3_ENST00000548645.1_Missense_Mutation_p.K46R|NPAS3_ENST00000356141.4_Missense_Mutation_p.K76R|NPAS3_ENST00000357798.5_Missense_Mutation_p.K46R	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GAATTGGCCAAGTTGTTGCCT	0.458000													28	62					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599432	29599432	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:29599432C>T	ENST00000431530.3	+	1	685	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	199						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTCTATCCCTCGACTCCC	0.602000													10	52					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308503	176308503	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:176308503G>A	ENST00000292432.5	-	18	2518	c.2427C>T	c.(2425-2427)atC>atT	p.I809I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	809	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCTCTAGGATGGCTCGGA	0.647000													8	29					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:78804038C>A	ENST00000545128.1	+	19	2947	c.2409C>A	c.(2407-2409)tgC>tgA	p.C803*	PCSK5_ENST00000376752.4_Nonsense_Mutation_p.C803*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458000													3	29					6.4e-05	6.43435e-05	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45130698	45130698	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:45130698T>A	ENST00000457685.2	-	6	2489	c.1166A>T	c.(1165-1167)cAt>cTt	p.H389L	ZNF334_ENST00000593880.1_Missense_Mutation_p.H450L|ZNF334_ENST00000347606.4_Missense_Mutation_p.H427L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCTCCTGTATGACTTCTTCG	0.408000													33	68					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	33					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414676	46414676	+	Missense_Mutation	SNP	G	G	A	rs149975182		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:46414676G>A	ENST00000343801.4	+	3	640	c.283G>A	c.(283-285)Gac>Aac	p.D95N	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.D95N|CCR5_ENST00000292303.4_Missense_Mutation_p.D95N	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	95			D -> N (in MWCCR5-107).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CGCCCAGTGGGACTTTGGAAA	0.473000													45	68					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662424	113662424	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:113662424G>T	ENST00000297405.5	-	19	3403	c.3159C>A	c.(3157-3159)aaC>aaA	p.N1053K	CSMD3_ENST00000455883.2_Missense_Mutation_p.N949K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1013K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1053K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	51					6.05902e-23	6.21381e-23	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119678367	119678367	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:119678367C>T	ENST00000371322.5	-	6	1113	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	CUL4B_ENST00000404115.3_Missense_Mutation_p.R369Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.R356Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	369					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.R351Q(1)|p.R369Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGGCTTCGAAGTAAACT	0.373000													24	62					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266236	225266236	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:225266236G>A	ENST00000389874.3	-	1	475	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM124B_ENST00000243806.2_Missense_Mutation_p.R84C|FAM124B_ENST00000409685.3_Missense_Mutation_p.R84C	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	84							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCCAGGACGCGAAATAGCCTA	0.547000													13	23					0	0	1	0	0
LAGE3	8270	broad.mit.edu	37	X	153706645	153706645	+	Silent	SNP	T	T	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153706645T>G	ENST00000357360.4	-	2	635	c.294A>C	c.(292-294)acA>acC	p.T98T	LAGE3_ENST00000407062.1_Silent_p.T98T	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	98							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACTCACTGTGAGATCCT	0.617000													40	64					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364054	22364054	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:22364054G>A	ENST00000397121.2	-	3	782	c.465C>T	c.(463-465)caC>caT	p.H155H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTGAGATAGGTGTGAAAGCA	0.318000													20	44					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7070920	7070920	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:7070920C>T	ENST00000299481.4	+	6	2488	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	714					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTATCACTTTCCCTGATGGTT	0.358000													32	57					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368890	37368890	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37368890C>T	ENST00000529555.1	+	2	1946	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ZNF345_ENST00000589046.1_Silent_p.I386I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.I386I|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	386					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAACTTATCCAACACCAGC	0.423000													15	36					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75038095	75038095	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:75038095C>T	ENST00000310715.3	-	21	2570	c.2449_splice	c.e21-1	p.G817_splice	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Splice_Site_p.G817_splice|TTC18_ENST00000355577.3_Splice_Site_p.G286_splice|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Splice_Site_p.G817_splice	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	817							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGCTCCTGGTCCTAAATAGAT	0.323000													4	3					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303220	117303220	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:117303220C>T	ENST00000321322.6	-	30	5208	c.5206_splice	c.e30-1	p.G1736_splice	DSCAML1_ENST00000527706.1_Splice_Site_p.G1466_splice	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1676					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGTCATCTCCTGGGGAAAG	0.458000													24	53					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47908564	47908564	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:47908564C>T	ENST00000285116.3	+	4	490	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SKA1_ENST00000488454.1_5'UTR|SKA1_ENST00000398452.2_Silent_p.S93S|SKA1_ENST00000417656.2_Silent_p.S93S	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	93					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ACGTTCCTTCCCATTTGCCTC	0.338000													7	20					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204652	43204652	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:43204652C>T	ENST00000255226.6	+	2	839	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P8L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	8						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGCAGTCCTCTCCTGCCA	0.572000													20	39					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031307	56031307	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:56031307C>T	ENST00000309675.2	+	1	664	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ATTATGATCCCCTTCTCTCTG	0.557000													31	39					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85404081	85404081	+	Missense_Mutation	SNP	G	G	A	rs34326321		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:85404081G>A	ENST00000373131.1	+	1	620	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	DACH2_ENST00000373125.4_Missense_Mutation_p.E153K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	153	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAAGACTTCGAAACTTTGTT	0.577000													12	14					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144603	12144603	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:12144603C>T	ENST00000263932.2	+	2	368	c.146C>T	c.(145-147)cCc>cTc	p.P49L	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	49					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCCCCATGGGTGAG	0.567000													23	32					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20123506	20123506	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:20123506G>A	ENST00000245957.5	+	9	941	c.865G>A	c.(865-867)Gag>Aag	p.E289K	C20orf26_ENST00000451767.2_Missense_Mutation_p.E289K|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.E289K	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	289										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CAAAGATGCTGAGCTCAGGAG	0.418000													3	7					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006212	161006212	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161006212G>A	ENST00000447678.1	-	27	4275	c.4155C>T	c.(4153-4155)gtC>gtT	p.V1385V	LPA_ENST00000316300.5_Silent_p.V1385V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3893	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCAGTCCTGGACCCCAGTGC	0.433000													50	97					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44864910	44864910	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:44864910G>A	ENST00000261866.7	-	33	6330	c.6314C>T	c.(6313-6315)tCc>tTc	p.S2105F	SPG11_ENST00000535302.2_Missense_Mutation_p.S1992F|SPG11_ENST00000427534.2_Missense_Mutation_p.S2105F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2105					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGGAACGGAGGAAATCTTATC	0.453000													19	45					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53035087	53035087	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:53035087T>C	ENST00000378037.5	+	3	302	c.212T>C	c.(211-213)gTg>gCg	p.V71A	CKAP2_ENST00000490903.1_Missense_Mutation_p.V22A|CKAP2_ENST00000258607.5_Missense_Mutation_p.V70A|CKAP2_ENST00000378034.3_Missense_Mutation_p.V70A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	71					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GGGACTAAAGTGCTGAAACTT	0.348000													18	31					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883678	74883678	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:74883678C>T	ENST00000346246.5	+	6	1299	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	356	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCTTCTCTCCCCACCCAAGA	0.642000													44	88					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153668801	153668801	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153668801C>T	ENST00000447750.2	+	6	1002	c.667C>T	c.(667-669)Cca>Tca	p.P223S		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	223					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCAAGAGCCCATATTTATA	0.572000													44	74					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176719072	176719072	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:176719072G>C	ENST00000439151.2	+	22	6421	c.6376G>C	c.(6376-6378)Gat>Cat	p.D2126H	NSD1_ENST00000361032.4_Missense_Mutation_p.D2023H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1857H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1857H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2126					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGTTGTGGGGATGCTGGCCA	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			19	19					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431916	47431916	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:47431916C>T	ENST00000524928.1	+	1	281	c.271C>T	c.(271-273)Cta>Tta	p.L91L	SLC39A13_ENST00000362021.4_Silent_p.L91L|SLC39A13_ENST00000531974.1_Silent_p.L91L|SLC39A13_ENST00000354884.4_Silent_p.L91L|SLC39A13_ENST00000533076.1_Silent_p.L91L			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	91					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGTCATTCCCCTAGAGATGGG	0.632000													21	37					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524290	23524290	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:23524290G>A	ENST00000397359.3	-	3	733	c.474C>T	c.(472-474)acC>acT	p.T158T	CDH24_ENST00000487137.2_Silent_p.T158T|CDH24_ENST00000554034.1_Silent_p.T158T|CDH24_ENST00000267383.5_Silent_p.T158T	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	158	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTCGGGCACGGTGGCATGGT	0.572000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070058	55070058	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:55070058C>T	ENST00000371316.3	+	12	1274	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.L398F	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	398	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTTGAAGATGCTTGTGGCCAA	0.542000													9	40					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10140429	10140429	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:10140429C>T	ENST00000287647.3	+	43	4304	c.4211C>T	c.(4210-4212)tCc>tTc	p.S1404F	FANCD2_ENST00000383807.1_Missense_Mutation_p.S1404F|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1404F|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1404					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCCAAAATTCCCAGGAGAGC	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	10					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22414247	22414247	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:22414247C>T	ENST00000240123.7	+	4	623	c.240C>T	c.(238-240)acC>acT	p.T80T	SORBS3_ENST00000523402.1_Silent_p.T80T	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	80					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGTATCAGACCTGGCCAGGCC	0.602000													12	21					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													7	42					5.18039e-06	5.22689e-06	1	1	0
TRPV3	162514	broad.mit.edu	37	17	3446837	3446837	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3446837C>T	ENST00000301365.4	-	5	528	c.397G>A	c.(397-399)Gag>Aag	p.E133K	TRPV3_ENST00000576742.1_Missense_Mutation_p.E133K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E133K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	133						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACCAACTCCTCCACGCAGCCC	0.587000													47	75					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327156	62327156	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:62327156T>C	ENST00000378019.3	-	10	1549	c.1459A>G	c.(1459-1461)Aag>Gag	p.K487E	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.K437E			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	437					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATGTTCACTTGAAGATCTTG	0.547000													7	18					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39525628	39525628	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:39525628G>A	ENST00000265707.5	+	14	1483	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S	ADAM18_ENST00000379866.1_Missense_Mutation_p.G456S|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCATTGAATGGCCGTTTGTG	0.408000													44	94					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151534	242151534	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:242151534C>T	ENST00000274979.8	+	16	1852	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ANO7_ENST00000402430.3_Silent_p.F582F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	583						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGACCAAGTTCGAGGACGCCT	0.582000													23	38					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379252	23379252	+	Silent	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:23379252T>A	ENST00000343070.2	+	5	1028	c.852T>A	c.(850-852)ctT>ctA	p.L284L	SCNN1B_ENST00000568085.1_Silent_p.L284L|SCNN1B_ENST00000307331.5_Silent_p.L329L|SCNN1B_ENST00000568923.1_Silent_p.L257L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	284					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGAAGGCACTTCCTTCGGCCA	0.502000													59	102					0	0	1	0	0
TRAV4	28689	broad.mit.edu	37	14	22204465	22204465	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:22204465G>A	ENST00000390426.2	+	0	32																											CACAGCAAAAGAGCCTAGAAC	0.547000													3	11					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939417	76939417	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:76939417C>T	ENST00000373344.5	-	9	1545	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R406Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	444					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTCCTTTTCGTGCTTTTGT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						52	110					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927555	119927555	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:119927555C>T	ENST00000361035.4	+	5	762	c.479C>T	c.(478-480)tCc>tTc	p.S160F	HAO2_ENST00000325945.3_Missense_Mutation_p.S147F	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	147	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGGGTAGAATCCCTAGGTTTC	0.463000													31	77					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179956363	179956363	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:179956363C>T	ENST00000393356.1	+	4	511	c.87C>T	c.(85-87)tcC>tcT	p.S29S	CNOT6_ENST00000261951.4_Silent_p.S29S|CNOT6_ENST00000502447.1_3'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	29					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAAAGAAATCCCACTGGGCAG	0.398000													12	21					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529513	117529513	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:117529513C>T	ENST00000393203.2	+	9	2711	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	855						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACTGCAGCTCCCACTGGTGT	0.617000													37	96					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753849	49753849	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:49753849C>T	ENST00000304801.3	-	1	1204	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	351					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGCTTTGGTTCCCTTAGCAAA	0.478000													41	86					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689253	43689253	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:43689253C>T	ENST00000404580.1	-	2	199	c.111G>A	c.(109-111)acG>acA	p.T37T	PSG5_ENST00000407568.1_Silent_p.T37T|PSG5_ENST00000407356.1_Silent_p.T37T|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Silent_p.T37T|PSG5_ENST00000599812.1_Silent_p.T37T|PSG5_ENST00000342951.6_Silent_p.T37T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	37	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGGCTTCAATCGTGACTTGAG	0.468000													57	133					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201507	81201507	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:81201507G>A	ENST00000394685.3	+	14	2076	c.1657G>A	c.(1657-1659)Ggt>Agt	p.G553S	KIAA1199_ENST00000356249.5_Missense_Mutation_p.G553S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G553S|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	553										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCAGCTGGTGGGTCAGTACCC	0.542000													13	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	12					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601247	25601247	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:25601247G>A	ENST00000215855.2	+	5	468	c.388G>A	c.(388-390)Gag>Aag	p.E130K	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	130	Beta/gamma crystallin 'Greek key' 3.			E -> D (in Ref. 5; CAA33242).	visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CCGCAAGATGGAGATAGTGGA	0.577000													6	30					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864223	22864223	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:22864223C>T	ENST00000283645.4	+	16	2311	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	TUBGCP5_ENST00000453949.2_Silent_p.F727F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	727					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAATTTTTTCTTAATGGAAG	0.373000													20	46					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983592	19983592	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19983592G>A	ENST00000379687.3	-	3	877	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	CXorf23_ENST00000379682.4_Missense_Mutation_p.R282C|CXorf23_ENST00000356980.3_Missense_Mutation_p.R282C	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	282						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CGTTTGTGACGATAGTCATAG	0.453000													21	56					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:46498700C>T	ENST00000263284.2	+	2	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000													4	10					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42304946	42304946	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:42304946G>A	ENST00000396169.2	-	4	1082	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CCK_ENST00000334681.5_Silent_p.G59G|CCK_ENST00000434608.1_Silent_p.G59G	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	59					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CCAGCAGGGCGCCCAGGTGCG	0.667000													32	46					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903895	11903895	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:11903895C>G	ENST00000405977.1	+	5	1775	c.1150C>G	c.(1150-1152)Cga>Gga	p.R384G	BTBD3_ENST00000378226.2_Missense_Mutation_p.R384G|BTBD3_ENST00000254977.3_Missense_Mutation_p.R323G|BTBD3_ENST00000399006.2_Missense_Mutation_p.R323G			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	384										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTGTGCCTATCGAAGCAACCA	0.527000													14	24					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398124	89398124	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:89398124G>A	ENST00000439576.2	+	12	2682	c.2308G>A	c.(2308-2310)Gaa>Aaa	p.E770K	ACAN_ENST00000559004.1_Missense_Mutation_p.E770K|ACAN_ENST00000561243.1_Missense_Mutation_p.E770K|ACAN_ENST00000352105.7_Missense_Mutation_p.E770K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	770					cell adhesion		hyaluronic acid binding|sugar binding	p.E770K(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAACAGAGGAAAGTACAGA	0.537000													4	9					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161665	132161665	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:132161665A>G	ENST00000511190.1	-	6	1053	c.584T>C	c.(583-585)tTg>tCg	p.L195S	USP26_ENST00000370832.1_Missense_Mutation_p.L195S|USP26_ENST00000406273.1_Missense_Mutation_p.L195S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	195					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCTTTCAAGAATTCCTC	0.348000													19	29					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100382224	100382224	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:100382224C>T	ENST00000294724.4	+	33	4896	c.4418C>T	c.(4417-4419)aCt>aTt	p.T1473I	AGL_ENST00000361915.3_Missense_Mutation_p.T1473I|AGL_ENST00000361302.3_Missense_Mutation_p.T1457I|AGL_ENST00000370165.3_Missense_Mutation_p.T1473I|AGL_ENST00000370161.2_Missense_Mutation_p.T1457I|AGL_ENST00000361522.4_Missense_Mutation_p.T1456I|AGL_ENST00000370163.3_Missense_Mutation_p.T1473I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1473					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGCCCGGAGACTACTGCAAAG	0.353000													5	18					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671516	49671516	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:49671516G>A	ENST00000252826.5	+	5	574		c.e5-1		TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGTCTGTGTAGGAGCCTGGAT	0.612000													35	62					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683885	69683885	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:69683885C>T	ENST00000265403.7	+	2	884	c.857C>T	c.(856-858)cCc>cTc	p.P286L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P202L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	286					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						CCTGCCAAACCCCTACCTAAG	0.373000													58	77					0	0	1	0	0
COPZ1	22818	broad.mit.edu	37	12	54741790	54741790	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:54741790C>T	ENST00000262061.2	+	7	439	c.402C>T	c.(400-402)atC>atT	p.I134I	COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000416254.2_Silent_p.I83I|COPZ1_ENST00000549043.1_Silent_p.I142I|COPZ1_ENST00000548753.1_Silent_p.I46I|COPZ1_ENST00000549116.1_Silent_p.I76I|COPZ1_ENST00000553231.1_Silent_p.I111I|COPZ1_ENST00000552362.1_Silent_p.I134I|COPZ1_ENST00000551779.1_Silent_p.I134I|COPZ1_ENST00000552218.1_Silent_p.I155I|COPZ1_ENST00000455864.2_Silent_p.I111I	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	134					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						GCAGGGTGATCCTAGAGAGTG	0.522000													19	18					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1126377	1126377	+	Silent	SNP	C	C	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:1126377C>A	ENST00000358220.1	+	5	501	c.357C>A	c.(355-357)tcC>tcA	p.S119S	WDR37_ENST00000263150.4_Silent_p.S119S|WDR37_ENST00000381329.1_Silent_p.S119S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	119										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCCAGCTCTCCCAGAAACTGA	0.498000													7	21					0.000157383	0.000157945	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98586570	98586570	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:98586570C>T	ENST00000359863.4	+	62	9793	c.9584C>T	c.(9583-9585)tCg>tTg	p.S3195L	TRRAP_ENST00000355540.3_Missense_Mutation_p.S3166L|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3166L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3195	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGCAAATCGAGGAAATAC	0.502000													8	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056850	9056850	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9056850G>A	ENST00000397910.4	-	3	30799	c.30596C>T	c.(30595-30597)tCc>tTc	p.S10199F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10201	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCAGTCTTGGAACTCTGTAA	0.458000													14	39					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033027	117033027	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:117033027C>T	ENST00000371876.1	-	6	4080	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	KLHL13_ENST00000545703.1_Silent_p.E562E|KLHL13_ENST00000540167.1_Silent_p.E588E|KLHL13_ENST00000371882.1_Silent_p.E553E|KLHL13_ENST00000539496.1_Silent_p.E607E|KLHL13_ENST00000371878.1_Silent_p.E553E|KLHL13_ENST00000469946.1_Silent_p.E553E|KLHL13_ENST00000262820.3_Silent_p.E604E|KLHL13_ENST00000541812.1_Silent_p.E588E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	604					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTGCACTATCTCTACCATAC	0.428000													39	72					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133547732	133547732	+	Missense_Mutation	SNP	C	C	T	rs149758116	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:133547732C>T	ENST00000409261.1	-	13	1329	c.956G>A	c.(955-957)gGg>gAg	p.G319E	NCKAP5_ENST00000409213.1_Missense_Mutation_p.G319E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G319E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G319E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	319							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATGACAGCCCCCAAGCCAGG	0.507000													4	23					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431539	40431539	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:40431539G>A	ENST00000372809.5	+	6	749	c.606G>A	c.(604-606)gtG>gtA	p.V202V	MFSD2A_ENST00000420632.2_Silent_p.V33V|MFSD2A_ENST00000372811.5_Silent_p.V189V|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	202					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGATGACTGTGGAAGTGCTGG	0.582000													28	45					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576655	158576655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:158576655C>T	ENST00000361284.1	+	1	427	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTCTGTGCCCAGCTGGTCAT	0.498000													45	27					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030268	44030268	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:44030268G>A	ENST00000269439.7	+	5	676	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	RNF165_ENST00000543885.1_Missense_Mutation_p.E17K	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	209							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GGTCGTCCATGAAATCCGAAA	0.517000													33	44					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584510	189584510	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:189584510G>A	ENST00000264731.3	+	6	895	c.806G>A	c.(805-807)gGg>gAg	p.G269E	TP63_ENST00000354600.5_Missense_Mutation_p.G175E|TP63_ENST00000392463.2_Missense_Mutation_p.G175E|TP63_ENST00000320472.5_Missense_Mutation_p.G269E|TP63_ENST00000392460.3_Missense_Mutation_p.G269E|TP63_ENST00000456148.1_Missense_Mutation_p.G175E|TP63_ENST00000437221.1_Missense_Mutation_p.G175E|TP63_ENST00000418709.2_Missense_Mutation_p.G269E|TP63_ENST00000440651.2_Missense_Mutation_p.G269E|TP63_ENST00000449992.1_Missense_Mutation_p.G90E|TP63_ENST00000392461.3_Missense_Mutation_p.G175E|TP63_ENST00000382063.4_Missense_Mutation_p.G184E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	269					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G269V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGAGTAGAGGGGAACAGCCAT	0.408000										HNSCC(45;0.13)			22	39					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378612	130378612	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:130378612G>A	ENST00000529410.1	+	11	1208	c.729G>A	c.(727-729)gcG>gcA	p.A243A	L3MBTL3_ENST00000368139.2_Silent_p.A218A|L3MBTL3_ENST00000361794.2_Silent_p.A243A|L3MBTL3_ENST00000533560.1_Silent_p.A218A|L3MBTL3_ENST00000368136.2_Silent_p.A243A|L3MBTL3_ENST00000526019.1_Silent_p.A218A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	243					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGGAGAAAGCGGTGGCAGTGC	0.527000													6	14					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55521827	55521827	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:55521827G>A	ENST00000302118.5	+	6	1251	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D121N	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	321	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTTCCGGGACGATGCCTGCCT	0.746000													5	6					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79833063	79833063	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:79833063C>T	ENST00000351004.3	+	5	878	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S	GNAI1_ENST00000457358.2_Missense_Mutation_p.P117S	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	169					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAATTACATCCCGACTCAACA	0.313000													7	22					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119328329	119328329	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:119328329G>A	ENST00000273371.4	+	4	540	c.468G>A	c.(466-468)tcG>tcA	p.S156S	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Silent_p.S140S|PLA1A_ENST00000494440.1_Silent_p.S140S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	156					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTGTGTCGGAATCCTCAA	0.582000													33	89					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193907	60193907	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:60193907G>A	ENST00000267484.5	-	3	1830	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	499					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTCTCCTCCCGGATGGCATCC	0.711000													4	8					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977889	46977889	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:46977889C>T	ENST00000371956.4	+	4	887	c.872C>T	c.(871-873)cCg>cTg	p.P291L	DMBX1_ENST00000360032.3_Missense_Mutation_p.P286L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTAGGGGGTCCGGCCCCTGCT	0.657000													15	32					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950641	129950641	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:129950641C>T	ENST00000368149.2	-	5	731	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ATCAGCTTCTCTTCACCAACA	0.458000													34	68					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879399	37879399	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37879399G>A	ENST00000436120.2	+	5	555	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCATGCAAGTGACAGCTGT	0.408000													14	48					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396297	8396297	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:8396297C>T	ENST00000360416.3	-	33	4393	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1409K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1404K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1388K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1388					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGACTTTCAATTGTTCCC	0.488000													31	75					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737122	102737122	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:102737122G>A	ENST00000532855.1	-	0	1064							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTGGCCATAAGGAAGAAATTA	0.358000													5	7					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86800142	86800142	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:86800142G>A	ENST00000441037.2	+	7	751	c.656G>A	c.(655-657)aGg>aAg	p.R219K	AGBL1_ENST00000421325.2_Missense_Mutation_p.R219K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	219					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGATCCTGAGGCAGTGCTAC	0.547000													9	21					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152785139	152785139	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152785139G>A	ENST00000360090.3	+	1	693	c.217G>A	c.(217-219)Ggt>Agt	p.G73S		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	73	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTGGGGGAGGTGGCTGCTG	0.677000													57	103					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833183	116833183	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:116833183G>A	ENST00000368599.3	+	1	375	c.324G>A	c.(322-324)ttG>ttA	p.L108L	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	108						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGAGCTCATTGGTGGCTCCAG	0.517000													16	32					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129374	30129374	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:30129374G>A	ENST00000484663.1	-	3	1445	c.312C>T	c.(310-312)aaC>aaT	p.N104N	MAPK3_ENST00000263025.4_Silent_p.N218N|MAPK3_ENST00000403394.1_Silent_p.N218N|MAPK3_ENST00000395199.3_Silent_p.N218N|MAPK3_ENST00000395202.1_Silent_p.N218N|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Silent_p.N218N			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	218	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTACCTTGGAGTTCAGCATGA	0.622000													13	18					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845570	123845570	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:123845570C>T	ENST00000369005.1	+	4	3895	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H	TACC2_ENST00000334433.3_Silent_p.H1185H|TACC2_ENST00000515603.1_Silent_p.H1185H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.H1185H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.H1185H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1185						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGCTGAGCACCCCATGGCCA	0.587000													9	14					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103470011	103470011	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:103470011G>A	ENST00000358392.2	-	20	2286	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.P529S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P606S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P645S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	645	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTCACCTGGAAGACCTCTT	0.328000													8	18					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11990494	11990494	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:11990494G>A	ENST00000434724.2	-	4	784	c.585C>T	c.(583-585)atC>atT	p.I195I	GSPT1_ENST00000439887.2_Silent_p.I194I|GSPT1_ENST00000420576.2_Silent_p.I57I|GSPT1_ENST00000563468.1_Silent_p.I57I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	57					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTTTTGGGATTTCCTCTT	0.488000													5	8					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73751164	73751164	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:73751164G>A	ENST00000339591.3	+	34	4564	c.4377G>A	c.(4375-4377)agG>agA	p.R1459R	ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000200181.3_Intron|ITGB4_ENST00000449880.2_Silent_p.R1459R|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron			P16144	ITB4_HUMAN	integrin, beta 4	1519					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACACGGGAGGAGCAGGCTTC	0.617000													5	7					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790286	248790286	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:248790286C>T	ENST00000330803.2	-	1	205	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GGCGAGAGTCCACCTGAATCA	0.498000													30	18					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388349	196388349	+	Missense_Mutation	SNP	C	C	G	rs147587398		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:196388349C>G	ENST00000328557.4	+	3	2038	c.1835C>G	c.(1834-1836)aCg>aGg	p.T612R		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CATGGGCAGACGGTGGCCGAC	0.637000													35	76					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105205672	105205672	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:105205672G>A	ENST00000332972.5	+	4	654	c.495G>A	c.(493-495)aaG>aaA	p.K165K	ADSSL1_ENST00000330877.2_Silent_p.K122K	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CAGGCCTGAAGGACTGGGAGA	0.642000													5	5					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				25	21					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599243	15599243	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:15599243G>A	ENST00000400577.3	+	5	484	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	159							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCCTTACTATGAAATGACAGC	0.413000													60	110					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96098255	96098255	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:96098255G>A	ENST00000278520.5	-	7	1697	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	CCDC82_ENST00000423339.2_Silent_p.S423S|CCDC82_ENST00000542662.1_Silent_p.S423S			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	423							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AAGCCTGGCAGGAACAGTTTT	0.328000													14	36					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4511006	4511006	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:4511006C>T	ENST00000307632.3	+	1	898	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCAATCCTATCATATATGGAG	0.453000													45	98					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466407	57466407	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:57466407C>T	ENST00000287169.3	+	11	2861	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P447L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	500						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TATACCTCTCCCTTCCTGTCA	0.582000													15	27					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829804	160829804	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:160829804G>A	ENST00000392145.1	+	4	735	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC22A3_ENST00000275300.2_Silent_p.S236S			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	236						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TAGTAGGTTCGAAACAAAGGA	0.403000													19	26					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490663	102490663	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:102490663C>T	ENST00000413150.2	+	22	2555	c.2500C>T	c.(2500-2502)Cgt>Tgt	p.R834C	MAP4K4_ENST00000425019.1_Missense_Mutation_p.R952C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R722C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1000C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.R919C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R959C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R718C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R838C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	919					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1000C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCGGAGATTCGTAAATACAA	0.473000													11	11					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18890295	18890295	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:18890295C>T	ENST00000266505.7	-	2	274	c.11_splice	c.e2+1	p.R4_splice	PLCZ1_ENST00000435379.1_Splice_Site_p.R2_splice|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Splice_Site_p.R4_splice|PLCZ1_ENST00000447925.2_Splice_Site_p.R2_splice			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	4					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R4T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAATGGATATCTCATTTCCAT	0.408000													21	37					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197614869	197614869	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:197614869G>A	ENST00000235453.4	-	9	699	c.422C>T	c.(421-423)tCc>tTc	p.S141F	DENND1B_ENST00000400967.2_Missense_Mutation_p.S141F|DENND1B_ENST00000367396.3_Missense_Mutation_p.S171F			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATGAAGTAGGAATGCTAATC	0.254000													12	7					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262828	159262828	+	RNA	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:159262828G>A	ENST00000522287.1	-	0	515					NR_028496.1																						GGACACAAACGAATCCAATGA	0.403000													18	57					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769190	37769190	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:37769190C>T	ENST00000402918.1	-	3	3170	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	ELFN2_ENST00000349653.3_Silent_p.K795K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	795						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGAACTGGACCTTCTTGCGCA	0.622000													27	63					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662777	40662777	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:40662777C>T	ENST00000454349.2	+	5	2754	c.2543C>T	c.(2542-2544)cCa>cTa	p.P848L	TNRC6B_ENST00000335727.8_Missense_Mutation_p.P848L|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	848	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCACCACCTCCAGGCAACGTT	0.617000													9	29					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576366	110576366	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:110576366C>T	ENST00000338081.3	-	4	1135	c.964G>A	c.(964-966)Gat>Aat	p.D322N	DCX_ENST00000488120.1_Missense_Mutation_p.D241N|DCX_ENST00000356220.3_Missense_Mutation_p.D241N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.D241N|DCX_ENST00000371993.2_Missense_Mutation_p.D241N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	322	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCAAAGAAATCATGGAGACAA	0.398000													11	26					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64957105	64957105	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:64957105G>A	ENST00000360270.5	+	10	1328	c.1156G>A	c.(1156-1158)Gct>Act	p.A386T	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	386					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCAGAGCGAGGCTGAAAAGCT	0.567000			T	ALK	ALCL								9	11					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112902	108112902	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:108112902C>T	ENST00000273353.3	-	37	5351	c.5295G>A	c.(5293-5295)gaG>gaA	p.E1765E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1765						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTTGGCCTTCTCTTCTGCAT	0.557000													16	63					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:40944419G>A	ENST00000373198.3	-	12	2318	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000													24	38					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100867054	100867054	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100867054C>T	ENST00000305105.2	+	4	902	c.374C>T	c.(373-375)cCc>cTc	p.P125L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	125							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TTCCCATCCCCCTACACCTGT	0.652000													18	59					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348012	89348012	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:89348012G>A	ENST00000301030.4	-	9	5398	c.4938C>T	c.(4936-4938)gaC>gaT	p.D1646D	ANKRD11_ENST00000378330.2_Silent_p.D1646D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1646	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAAATGGAGGGTCCAGCCCCG	0.567000													80	70					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338911	19338911	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:19338911C>T	ENST00000252575.5	+	8	2525	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NCAN_ENST00000538881.1_Missense_Mutation_p.P279S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	828					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTGTGAATCCCATGGATTC	0.567000													26	42					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060880	71060880	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:71060880G>A	ENST00000410009.3	-	3	507	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	154					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTAACTCTGGGATTTGGGCAT	0.443000													29	46					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74008111	74008111	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:74008111G>A	ENST00000301607.3	-	19	2686	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	EVPL_ENST00000586740.1_Silent_p.S833S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	811	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGGGCCTGGGAGAGGTGGG	0.637000													5	12					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49166461	49166461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:49166461G>A	ENST00000418109.1	-	14	1887	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.R575*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	575	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R575*(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGCCCTCGGGTGTCCTCA	0.627000													27	27					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85570396	85570396	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:85570396G>A	ENST00000295802.4	-	11	1914	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S540F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	601					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCGGATCCTAGAATCAAGATT	0.517000													27	39					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609361	29609361	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:29609361C>T	ENST00000323874.8	+	12	2152	c.2042C>T	c.(2041-2043)aCc>aTc	p.T681I	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.T681I|PTPRU_ENST00000428026.2_Missense_Mutation_p.T681I|PTPRU_ENST00000373779.3_Missense_Mutation_p.T681I|PTPRU_ENST00000356870.3_Missense_Mutation_p.T681I|PTPRU_ENST00000345512.3_Missense_Mutation_p.T681I			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	681					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATGCCCTTTACCGTGGGTGAC	0.622000													29	57					0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104979	88104979	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:88104979G>A	ENST00000398392.2	-	1	1480	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	CGGBP1_ENST00000462901.1_Silent_p.L50L|CGGBP1_ENST00000309534.6_Silent_p.L50L|CGGBP1_ENST00000482016.1_Silent_p.L50L			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		ACATGATTCAGAACCACATTG	0.458000													38	70					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65439400	65439400	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:65439400G>A	ENST00000304895.4	-	8	1403	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	GUSB_ENST00000421103.1_Missense_Mutation_p.H279Y|GUSB_ENST00000345660.6_Missense_Mutation_p.H374Y	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	425					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCATGTGGTGATGCAGAGAA	0.622000													30	48					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190187	109190187	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:109190187C>T	ENST00000392644.4	+	4	620	c.452C>T	c.(451-453)cCt>cTt	p.P151L	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	151							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGATCCCTTCCTCCCTCCGAC	0.512000													20	54					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4318903	4318903	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:4318903C>T	ENST00000221856.6	+	10	1141	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	FSD1_ENST00000597590.1_Missense_Mutation_p.R332C|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTCAGGTCGTGGGGGACG	0.597000													19	32					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754067	167754067	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:167754067G>A	ENST00000239587.5	+	3	767	c.679G>A	c.(679-681)Gac>Aac	p.D227N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	227	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AATTTTCAGTGACTTTAAAGA	0.398000													16	60					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485609	121485609	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:121485609G>A	ENST00000260197.7	+	41	5578	c.5449G>A	c.(5449-5451)Gag>Aag	p.E1817K	SORL1_ENST00000534286.1_Missense_Mutation_p.E727K|SORL1_ENST00000527934.1_Missense_Mutation_p.E432K|SORL1_ENST00000532694.1_Missense_Mutation_p.E663K|SORL1_ENST00000525532.1_Missense_Mutation_p.E761K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1817	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACATCCTATGAGATTTCTGC	0.512000													10	32					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598352	46598352	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:46598352C>T	ENST00000398637.5	-	10	1362	c.668G>A	c.(667-669)gGa>gAa	p.G223E	SLC38A1_ENST00000439706.1_Missense_Mutation_p.G223E|SLC38A1_ENST00000546893.1_Missense_Mutation_p.G223E|SLC38A1_ENST00000549049.1_Missense_Mutation_p.G223E|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.G223E	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	223					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAGGAAAATCCACTAGTATA	0.289000													38	38					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96166262	96166262	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:96166262G>A	ENST00000453304.1	-	6	1157	c.809C>T	c.(808-810)tCt>tTt	p.S270F	UNC5C_ENST00000506749.1_Missense_Mutation_p.S270F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	270	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTTACACACAGACCACTCCGT	0.522000													11	13					0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600049	116600049	+	Silent	SNP	A	A	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:116600049A>T	ENST00000368608.3	-	1	1017	c.945T>A	c.(943-945)ccT>ccA	p.P315P	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	315					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		AACCGGTTCTAGGGTGTCTGA	0.463000													36	87					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397987	10397987	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:10397987G>A	ENST00000226207.5	-	38	5564	c.5470C>T	c.(5470-5472)Cgt>Tgt	p.R1824C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1824						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAAGTTCACGAACCTACAAG	0.388000													28	44					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995948	38995948	+	Splice_Site	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:38995948G>T	ENST00000355481.4	+	53	8441		c.e53-1		RYR1_ENST00000359596.3_Splice_Site|RYR1_ENST00000360985.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	TCCATCTCTAGATCCAGAACA	0.607000													3	2					0.115264	0.115264	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4512739	4512739	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:4512739C>T	ENST00000301286.3	-	3	1190	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	397	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCTGCCCCTG	0.562000													29	17					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384791	109384791	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:109384791C>T	ENST00000283195.6	+	20	7922	c.7796C>T	c.(7795-7797)tCc>tTc	p.S2599F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2599					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCTTTGCTTCCTTTCCAACG	0.333000													49	145					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064803	42064803	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:42064803G>A	ENST00000400454.1	-	3	918	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	147	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGAGGAGGGGATAATGCACT	0.532000													23	35					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890516	6890516	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:6890516C>T	ENST00000419673.2	+	13	1562	c.1345C>T	c.(1345-1347)Ctc>Ttc	p.L449F	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L608F|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L556F|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L444F|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L449F|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.L608F|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L431F|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L449F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	431					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CAGGAAGCTGCTCAGGAGGAA	0.483000													10	15					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497317	149497317	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:149497317G>A	ENST00000261799.4	-	22	3470	c.3001C>T	c.(3001-3003)Ccc>Tcc	p.P1001S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1001					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTCCAGGGGAGATCGGAGG	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								25	48					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73115924	73115924	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:73115924T>C	ENST00000373189.5	+	5	749	c.697T>C	c.(697-699)Ttc>Ctc	p.F233L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	233					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CGCCCTGGCCTTCTTCCTGAC	0.607000													17	41					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403845	20403845	+	Missense_Mutation	SNP	C	C	T	rs146809169		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:20403845C>T	ENST00000285600.4	+	1	79	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAAATGAATCGATGGTGTCT	0.348000													45	193					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132162	161132162	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161132162T>C	ENST00000308192.9	+	4	409	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.S116P	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	116	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGGACGATGTCCAAAACAAA	0.443000													17	30					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156438708	156438708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:156438708G>A	ENST00000348159.4	-	10	1591	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	MEF2D_ENST00000360595.3_Nonsense_Mutation_p.Q364*|MEF2D_ENST00000353795.3_Nonsense_Mutation_p.Q325*|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Nonsense_Mutation_p.Q364*|MEF2D_ENST00000340875.5_Nonsense_Mutation_p.Q370*	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	371	Gln/Pro-rich.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tgcggctgctggggctgctgt	0.637000													22	52					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527784	207527784	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:207527784G>A	ENST00000452335.2	-	11	1592	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAACCATTTTGGGGATGTCCT	0.507000													23	40					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664814	51664814	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:51664814G>T	ENST00000409535.1	+	6	817	c.692G>T	c.(691-693)gGt>gTt	p.G231V	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	231						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAAGAGAAGGGTGGCACCCAT	0.517000													11	20					3.86212e-05	3.88981e-05	1	1	0
MDH1B	130752	broad.mit.edu	37	2	207621696	207621696	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:207621696C>T	ENST00000374412.3	-	4	614	c.339G>A	c.(337-339)ggG>ggA	p.G113G	MDH1B_ENST00000454776.2_Silent_p.G113G|MDH1B_ENST00000392214.2_Silent_p.G113G|MDH1B_ENST00000449792.1_Silent_p.G15G	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	113					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTATATGTGCCCCCAGGTTCT	0.443000													20	51					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920136	10920136	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:10920136C>T	ENST00000298232.7	-	18	1431	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R373Q|TPTE_ENST00000342420.5_Missense_Mutation_p.R335Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATCTGTTCGCCTTTCTCC	0.383000													7	43					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462247	112462247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:112462247C>T	ENST00000297145.4	-	5	935	c.770G>A	c.(769-771)tGg>tAg	p.W257*		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	257										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GCAGCAAATCCATCGCTGGTA	0.408000													19	29					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410852	23410852	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23410852C>T	ENST00000379361.4	+	3	2077	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	406	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGCTGCAATTCCTGTATTGCA	0.458000													33	54					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805668	35805668	+	Splice_Site	SNP	G	G	A	rs5814		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:35805668G>A	ENST00000342694.2	+	13	2302		c.e13+1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)						intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCTATGCCAGTGAGGCCCAC	0.522000													33	40					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931922	102931922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:102931922C>T	ENST00000423833.2	-	3	1259	c.34G>A	c.(34-36)Gga>Aga	p.G12R	MORF4L2_ENST00000433176.2_Missense_Mutation_p.G12R|MORF4L2_ENST00000451301.1_Missense_Mutation_p.G12R|MORF4L2_ENST00000441076.2_Missense_Mutation_p.G12R|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G12R|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G12R|MORF4L2_ENST00000492116.1_5'UTR			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	12					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GATTGCTGTCCACGAGGTTGA	0.403000													44	115					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759741	3759741	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:3759741G>A	ENST00000316757.3	-	2	722	c.522C>T	c.(520-522)ccC>ccT	p.P174P		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	174					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCAGCCAGGGTTCCGGGG	0.657000													17	22					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852291	20852291	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:20852291C>T	ENST00000382148.3	-	2	425		c.e2-1		KCNIP4_ENST00000509207.1_Splice_Site|KCNIP4_ENST00000447367.2_Splice_Site|KCNIP4_ENST00000382150.4_Splice_Site|KCNIP4_ENST00000382149.4_Splice_Site|KCNIP4_ENST00000359001.5_Splice_Site|KCNIP4_ENST00000382152.2_Splice_Site	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCACGCTGTCTGTGGAGGAA	0.498000													8	6					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932369	39932369	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:39932369C>T	ENST00000342274.4	-	4	2592	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	BCOR_ENST00000378455.4_Missense_Mutation_p.E744K|BCOR_ENST00000378444.4_Missense_Mutation_p.E744K|BCOR_ENST00000397354.3_Missense_Mutation_p.E744K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	744					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GATCTCCTCTCTGGTTTCTCC	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						45	112					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891739	54891739	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:54891739C>T	ENST00000356805.4	+	33	6851	c.6570C>T	c.(6568-6570)gcC>gcT	p.A2190A		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2190					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTTACCAGCCAGAACCCAGG	0.582000													38	59					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201506	81201506	+	Silent	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:81201506G>T	ENST00000394685.3	+	14	2075	c.1656G>T	c.(1654-1656)gtG>gtT	p.V552V	KIAA1199_ENST00000356249.5_Silent_p.V552V|KIAA1199_ENST00000220244.3_Silent_p.V552V|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	552										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCAGCTGGTGGGTCAGTACC	0.547000													13	29					0.00400662	0.00401377	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221822	118221822	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:118221822G>A	ENST00000402510.2	-	11	3370	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1124										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGTCAACTGGGAAAGATGTCT	0.468000													50	125					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444798	63444798	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:63444798C>T	ENST00000453546.1	-	10	1947	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	ASB12_ENST00000396130.2_Missense_Mutation_p.D236N|ASB12_ENST00000362002.2_Missense_Mutation_p.D245N			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCACCAAAATCGATTAACAGC	0.502000													6	26					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177235	7177235	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7177235C>T	ENST00000406697.1	+	15	1975	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.F449F|C1S_ENST00000402681.3_Silent_p.F282F|C1S_ENST00000328916.3_Silent_p.F449F			P09871	C1S_HUMAN	complement component 1, s subcomponent	449	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTAAAAACTTCCCCTGGCAAG	0.483000													23	62					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906358	906358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:906358C>T	ENST00000379409.2	+	5	734	c.704C>T	c.(703-705)cCg>cTg	p.P235L	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.P195L|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.P195L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	235										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTCGGGGGGCCGCGGCGCTGC	0.741000													5	19					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28626770	28626770	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:28626770T>A	ENST00000380982.4	-	5	607	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	FLT3_ENST00000241453.7_Missense_Mutation_p.M176L|FLT3_ENST00000537084.1_Missense_Mutation_p.M176L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	176					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.M176V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTTTCCATTTTTCTAAAG	0.408000			"""Mis, O"""		"""AML, ALL"""								17	53					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120360533	120360533	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:120360533G>A	ENST00000283871.5	-	11	1241	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATTGAACGGGGAGACATCCTA	0.413000													20	44					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100122	110100122	+	Silent	SNP	C	C	T	rs147178230		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:110100122C>T	ENST00000518632.1	+	2	732	c.381C>T	c.(379-381)atC>atT	p.I127I	TRHR_ENST00000311762.2_Silent_p.I127I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	127						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACATAGCAATCTGTCACCCCA	0.418000													17	35					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096895	97096895	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:97096895G>A	ENST00000371247.2	-	30	3211	c.3022C>T	c.(3022-3024)Cct>Tct	p.P1008S	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1008S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P962S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1008					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGCAGAGGAGGCAAGGGTGGG	0.617000													17	14					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:164783091C>T	ENST00000264382.3	-	7	827	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	255	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)			7	35					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403591	78403591	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:78403591G>A	ENST00000258930.3	-	3	442	c.114C>T	c.(112-114)gcC>gcT	p.A38A	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	38							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CGAGGTTGGGGGCCAGCTCAT	0.607000													17	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452434	179452434	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:179452434C>T	ENST00000589042.1	-	306	63826	c.63602G>A	c.(63601-63603)cGa>cAa	p.R21201Q	TTN_ENST00000342992.6_Missense_Mutation_p.R18633Q|TTN_ENST00000591111.1_Missense_Mutation_p.R19560Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12328Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12261Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12136Q|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19560	Fibronectin type-III 54.						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)			AGGGGCTGGTCGTCCTCTCAC	0.478000													13	25					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221584	59221584	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:59221584G>A	ENST00000262717.4	+	12	2460	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	CDH20_ENST00000538374.1_Missense_Mutation_p.E688K|CDH20_ENST00000536675.2_Missense_Mutation_p.E688K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	688					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACCCCCGGGAGGCGCAGGC	0.682000													36	80					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968585	69968585	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:69968585C>T	ENST00000299293.2	+	10	1887	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	FRS2_ENST00000397997.2_Silent_p.P459P|FRS2_ENST00000549921.1_Silent_p.P459P|FRS2_ENST00000550389.1_Silent_p.P459P	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	459					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTACAACTCCCCTTCCACAAA	0.498000													26	37					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548009	22548009	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:22548009G>A	ENST00000317216.2	-	2	1498	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.P343S|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	381					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GTGACCACGGGGGCCAGCGAC	0.672000													10	29					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566421	5566421	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:5566421G>A	ENST00000322653.4	-	1	358	c.333C>T	c.(331-333)ttC>ttT	p.F111F	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAGTGAAGGAAGAACATTT	0.453000													22	55					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99446927	99446927	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:99446927T>C	ENST00000339416.2	-	54	6289	c.6235A>G	c.(6235-6237)Aca>Gca	p.T2079A	DOCK9_ENST00000376460.1_3'UTR			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTGTGCTTGTTGGAGTCCCA	0.517000													12	16					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78326855	78326855	+	Silent	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:78326855T>C	ENST00000582970.1	+	33	10562	c.10419T>C	c.(10417-10419)ccT>ccC	p.P3473P	RNF213_ENST00000336301.6_Silent_p.P1546P|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.P3522P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGACTTGCCTGAGCGTGAGT	0.632000													17	38					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156843	146156843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:146156843G>A	ENST00000276816.4	-	4	1516	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.Q444*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGGAGCTCTGACTAAATGCT	0.488000													19	54					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104331549	104331549	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:104331549T>C	ENST00000299767.5	+	6	1002	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	274					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATATTCACAGTTCATAAACTT	0.289000													4	12					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835011	27835011	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:27835011G>A	ENST00000331442.3	-	1	348	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	99	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CAGTGCCCTTGGTCTGCACCA	0.582000													55	143					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703022	27703022	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:27703022G>A	ENST00000438700.3	-	1	275	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	53					spermatid development	integral to membrane	hedgehog receptor activity	p.S53F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGTTCGGGGGATTTCGGGGG	0.692000													40	97					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050985	90050985	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:90050985G>A	ENST00000405460.2	+	55	11659	c.11563G>A	c.(11563-11565)Gaa>Aaa	p.E3855K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3855	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E3855K(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCATGCCGAAGTTTCCAT	0.313000													8	16					0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106717021	106717021	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:106717021G>A	ENST00000333274.6	-	5	903	c.622C>T	c.(622-624)Cca>Tca	p.P208S	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P181S	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	208					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTATCCTTGGTGTTTGTGCC	0.493000													19	55					0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236170	40236170	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:40236170G>A	ENST00000327582.5	-	1	850	c.758C>T	c.(757-759)gCt>gTt	p.A253V	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	253					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGGGGGGAAAGCCCCCACCTC	0.522000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	59					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958885	24958885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:24958885G>A	ENST00000289968.6	-	14	1228	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	ARHGAP17_ENST00000303665.5_Nonsense_Mutation_p.Q387*|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	387	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCGCTGGTCTGAGCAAGCTTT	0.453000													19	35					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109365414	109365414	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:109365414T>C	ENST00000283195.6	+	9	1228	c.1102T>C	c.(1102-1104)Ttt>Ctt	p.F368L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	368					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAGCAAGATTTTTTAAAAGA	0.338000													80	120					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239578	3239578	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:3239578G>A	ENST00000217939.6	-	5	4302	c.4148C>T	c.(4147-4149)tCa>tTa	p.S1383L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1383						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCGTCCTTGAGGGATTCCA	0.507000													6	23					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100718	139100718	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:139100718G>A	ENST00000358701.5	-	12	1990	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	651					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAACCCCGAGGAAGGGTGCGG	0.607000													11	98					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11537503	11537503	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:11537503C>T	ENST00000356392.4	-	5	801	c.714_splice	c.e5+1	p.M238_splice	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Splice_Site_p.M47_splice|CCDC151_ENST00000545100.1_Splice_Site_p.M184_splice	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	238										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TAGTCCCTACCATTAGATAGG	0.612000													5	18					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450984	155450984	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:155450984C>T	ENST00000461783.3	+	6	1900	c.627C>T	c.(625-627)tcC>tcT	p.S209S	TIAM2_ENST00000318981.5_Silent_p.S209S|TIAM2_ENST00000456144.1_Silent_p.S209S|TIAM2_ENST00000529824.2_Silent_p.S209S|TIAM2_ENST00000360366.4_Silent_p.S209S|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	209					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CGGAAACCTCCCCTGTGCCTG	0.637000													13	40					0	0	1	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61978009	61978009	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:61978009G>A	ENST00000244930.4	+	2	244	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	60						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGGCTATGGGGAAATTCAAGC	0.398000													28	73					0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073705	67073705	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:67073705C>T	ENST00000288840.5	+	4	2354	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	SMAD6_ENST00000338426.4_Silent_p.F180F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	441	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						TGTTCGACTTCGAGCGCTCGG	0.726000													11	27					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2096348	2096348	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:2096348G>A	ENST00000219066.1	-	2	177	c.159C>T	c.(157-159)agC>agT	p.S53S		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	53					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						GCTTCACGGGGCTGTGGCTTT	0.622000								Base excision repair (BER), DNA glycosylases					26	48					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962953	2962953	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:2962953G>A	ENST00000396946.4	-	16	2358	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652000			Mis		DLBCL								20	54					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001422	40001422	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:40001422C>T	ENST00000308666.3	-	3	1350	c.1215G>A	c.(1213-1215)agG>agA	p.R405R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	405					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGACATAATCCTTTCAATAG	0.348000													28	40					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425891	96425891	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:96425891T>A	ENST00000359246.4	+	14	2278	c.1911T>A	c.(1909-1911)ttT>ttA	p.F637L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	637	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTTCTCTTTTTCTTTCTCCA	0.473000													5	39					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069653	153069653	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153069653C>T	ENST00000164640.4	-	8	1656	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	PDZD4_ENST00000544474.1_Missense_Mutation_p.E380K|PDZD4_ENST00000393758.2_Missense_Mutation_p.E414K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	489						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGGCTCTCGGGCAGGGGC	0.706000													7	6					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246248	233246248	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:233246248G>A	ENST00000392027.2	+	11	1620	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	451			E -> G (in dbSNP:rs1048994).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCCCCTGGACGAAGAGACCCA	0.647000													7	21					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23619306	23619306	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:23619306G>A	ENST00000261584.4	-	12	3381	c.3229C>T	c.(3229-3231)Ccc>Tcc	p.P1077S	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1077	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGGCACAGGGATGACTCAGG	0.438000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					15	31					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166960505	166960505	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:166960505T>A	ENST00000061240.2	+	10	1820	c.1173T>A	c.(1171-1173)ttT>ttA	p.F391L	TLL1_ENST00000507499.1_Missense_Mutation_p.F391L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	391	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTAAATTTTACAACGATGG	0.368000													12	13					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956254	5956254	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:5956254C>T	ENST00000284898.6	-	20	2037	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E604K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E613K|RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.E417K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	613					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAATATCTTCTTCAGGGAGT	0.488000													53	76					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993279	28993279	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:28993279G>A	ENST00000359747.4	+	15	2930	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.G948G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	948					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATATTCAAGGGAATATTTGTG	0.423000													41	101					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306936	14306936	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:14306936G>A	ENST00000378053.3	-	2	1473	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P406L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	406	Fibronectin type-III.				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)		TTTTCTTGAGGGACTCCCTGT	0.458000													48	130					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586232	7586232	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7586232C>T	ENST00000313599.3	-	3	240	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CD163L1_ENST00000396630.1_Silent_p.V61V|CD163L1_ENST00000416109.2_Silent_p.V61V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	61	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTCACCTCCACTGTCCCAG	0.483000													36	69					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603361	31603361	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:31603361C>T	ENST00000376033.2	+	24	5610	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	PRRC2A_ENST00000376007.4_Silent_p.A1792A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1792	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTTCCCAGGCCATTCCTGTAT	0.592000													23	54					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142184064	142184064	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:142184064G>A	ENST00000350721.4	-	41	7037	c.6916C>T	c.(6916-6918)Ctt>Ttt	p.L2306F	ATR_ENST00000383101.3_Missense_Mutation_p.L2242F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2306					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTTTCTGAAGAGAAGCAAGA	0.318000								Other conserved DNA damage response genes					8	23					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431915	47431915	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:47431915C>T	ENST00000524928.1	+	1	280	c.270C>T	c.(268-270)ccC>ccT	p.P90P	SLC39A13_ENST00000362021.4_Silent_p.P90P|SLC39A13_ENST00000531974.1_Silent_p.P90P|SLC39A13_ENST00000354884.4_Silent_p.P90P|SLC39A13_ENST00000533076.1_Silent_p.P90P			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TTGTCATTCCCCTAGAGATGG	0.632000													20	38					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182069	34182069	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:34182069C>T	ENST00000373381.4	-	20	3210	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	972	CUB 6.					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)				TGGCCACTTTCCAGGTGGAAG	0.577000													13	11					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18150990	18150990	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:18150990A>G	ENST00000327031.4	-	20	2693	c.2468T>C	c.(2467-2469)cTc>cCc	p.L823P	FLII_ENST00000579294.1_Missense_Mutation_p.L812P|FLII_ENST00000379450.4_Missense_Mutation_p.L737P|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.L768P	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	823	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTGCCCTCGAGGCTGCGGCT	0.706000													11	18					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85592151	85592151	+	RNA	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:85592151T>A	ENST00000590707.1	+	0	1450					NR_003719.2																						AAGCAGCTTTTCCACTTGATA	0.393000													8	3					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78440569	78440569	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:78440569G>A	ENST00000278550.7	-	22	3720	c.3258C>T	c.(3256-3258)ttC>ttT	p.F1086F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCATGAGGTTGAAGGGGATGG	0.572000													12	24					0	0	1	0	0
FAM216B	144809	broad.mit.edu	37	13	43358195	43358195	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:43358195G>A	ENST00000537894.1	+	2	115		c.e2-1		FAM216B_ENST00000313851.1_5'UTR	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B																		TGGAGGTATAGGATAAACGAT	0.348000													14	39					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													7	45					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379719	38379719	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:38379719G>A	ENST00000396884.2	-	2	355	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P25S|SOX10_ENST00000470555.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	25						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCGCTCCCCGGGGACAGGCAG	0.781000													5	3					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105037	123105037	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:123105037T>G	ENST00000466202.1	-	10	2184	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	IQUB_ENST00000324698.6_Missense_Mutation_p.E536D|IQUB_ENST00000434450.1_Missense_Mutation_p.E536D			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	536										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTCTAGAATTTCCTGAGTTA	0.318000													36	68					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193084	104193084	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104193084C>T	ENST00000374855.4	-	2	210	c.86G>A	c.(85-87)gGg>gAg	p.G29E	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	29					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCCAGGATCCCCTTTCCATT	0.443000													15	26					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037939	148037939	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:148037939C>T	ENST00000370460.2	+	11	2843	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	AFF2_ENST00000370457.5_Silent_p.I755I|AFF2_ENST00000342251.3_Silent_p.I755I|AFF2_ENST00000286437.5_Silent_p.I429I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	788					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGAAATCCTGTCCCCTC	0.468000													37	65					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:4389397C>T	ENST00000408920.2	-	1	219	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					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)		GCAGGCTGTTCCCAAGAAGGG	0.527000													9	24					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378613	130378613	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:130378613G>A	ENST00000529410.1	+	11	1209	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V219M|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V244M|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V219M|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V244M|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V219M			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	244					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGAGAAAGCGGTGGCAGTGCC	0.527000													5	14					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850120	38850120	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:38850120G>A	ENST00000409235.3	+	14	1622	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CATSPERG_ENST00000215069.4_Intron|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E463K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	503					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTCTAACAAGGAAAACTTCAT	0.537000													12	32					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605959	195605959	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:195605959G>A	ENST00000333602.6	-	7	1592	c.975C>T	c.(973-975)acC>acT	p.T325T	TNK2_ENST00000392400.1_Silent_p.T325T|TNK2_ENST00000316664.3_Silent_p.T325T|TNK2_ENST00000381916.2_Silent_p.T388T|TNK2_ENST00000428187.1_Silent_p.T357T	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	325	Protein kinase.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTGGCCGTAGGTGAACATTT	0.632000													40	96					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226995	2226995	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:2226995C>T	ENST00000398665.3	+	27	4511	c.4475C>T	c.(4474-4476)tCc>tTc	p.S1492F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1492						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCTCCTCCGTGCTGCAG	0.716000													11	21					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79939655	79939655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:79939655G>A	ENST00000373275.4	-	37	4303	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1363	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAACATCTTGATAATCCTAC	0.358000													6	27					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95157616	95157616	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:95157616G>A	ENST00000428113.1	+	3	1050	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	ASB4_ENST00000325885.5_Splice_Site	NM_145872.2	NP_665879.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	327					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCCATAAGGTGAGGCTCTG	0.552000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	33					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729062	8729062	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:8729062T>G	ENST00000381920.3	+	5	851	c.593T>G	c.(592-594)cTg>cGg	p.L198R	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.L142R	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	198							methyltransferase activity			large_intestine(5)|lung(4)	9						GACTACATCCTGTTCCGACAG	0.647000													30	33					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211270	37211270	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:37211270G>A	ENST00000216200.5	-	3	126	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PVALB_ENST00000417718.2_Missense_Mutation_p.S24F|PVALB_ENST00000404171.1_5'UTR	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	24							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						GTGGTCGAAGGAGTCGGTAGC	0.512000													15	28					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231816	21231816	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:21231816G>A	ENST00000233242.1	-	26	8051	c.7924C>T	c.(7924-7926)Cca>Tca	p.P2642S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2642					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACCTGGATGGGATTTTTATA	0.358000													43	125					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499685	104499685	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104499685C>T	ENST00000361820.3	-	1	1177	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	193					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCGCCGACACCCCTTGCACC	0.587000													23	25					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32628039	32628039	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:32628039C>T	ENST00000373625.3	+	9	918	c.825C>T	c.(823-825)gcC>gcT	p.A275A	KPNA6_ENST00000537234.1_Silent_p.A272A|KPNA6_ENST00000545542.1_Silent_p.A280A	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	275					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTGCTGGGCCCTTTCTTATC	0.537000													47	106					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209200545	209200545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:209200545G>T	ENST00000264380.4	+	26	4443	c.4285G>T	c.(4285-4287)Gaa>Taa	p.E1429*	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1429					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGCCATTGATGAAAGACTTGC	0.303000													14	40					2.48551e-13	2.53513e-13	1	1	0
SERTAD4	56256	broad.mit.edu	37	1	210415509	210415509	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:210415509G>A	ENST00000367012.3	+	4	1128	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	300							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCTCAGCCACGAACCTGTGGG	0.398000													32	20					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344289	248344289	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:248344289C>T	ENST00000359682.2	+	1	1002	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCTTTTTCTATGATGTCA	0.294000													60	47					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327154	62327154	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:62327154C>T	ENST00000378019.3	-	10	1551	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Silent_p.K437K			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	437					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGATGTTCACTTGAAGATCT	0.547000													7	17					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199461	20199461	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:20199461G>A	ENST00000400331.5	-	5	831	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	MACC1_ENST00000332878.4_Missense_Mutation_p.R175W|MACC1_ENST00000589011.1_Missense_Mutation_p.R175W	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	175					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAAGCCTCCCGATCATTTTTA	0.468000													17	34					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036630	13036630	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:13036630G>A	ENST00000376187.1	+	2	702	c.702G>A	c.(700-702)agG>agA	p.R234R	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	234										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GCCAGATGAGGAATCTTCGCA	0.473000													31	187					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15522784	15522784	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:15522784G>A	ENST00000395906.3	-	1	42	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	15										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCTCACAACGAAAATAGGGG	0.493000													72	247					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Translation_Start_Site	SNP	T	T	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:58145436T>A	ENST00000540325.1	-	0	235				CDK4_ENST00000312990.6_Missense_Mutation_p.K22M|CDK4_ENST00000257904.6_Missense_Mutation_p.K22M|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron			P11802	CDK4_HUMAN	cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma				15	19					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139856364	139856364	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:139856364G>A	ENST00000303045.6	-	4	1142	c.696C>T	c.(694-696)cgC>cgT	p.R232R	COL22A1_ENST00000435777.1_Silent_p.R232R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	232					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGCTTAAAGCGATCTCCTT	0.463000										HNSCC(7;0.00092)			35	77					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612272	8612272	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:8612272C>T	ENST00000382073.3	+	3	387	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	67					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TCACCTGCTTCAGTGAAGGGA	0.388000													33	64					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283218	47283218	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:47283218G>C	ENST00000467728.1	+	5	2067	c.829G>C	c.(829-831)Ggc>Cgc	p.G277R	NR1H3_ENST00000441012.2_Missense_Mutation_p.G277R|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Missense_Mutation_p.G232R|NR1H3_ENST00000395397.3_Missense_Mutation_p.G232R|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	277	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGCTACCCGGCTTCCTGCA	0.597000													18	31					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028074	69028074	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:69028074G>A	ENST00000288368.4	+	26	3510	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1078					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATGAGAAGGGAGAAAGAAAC	0.393000													33	51					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594596	140594596	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140594596G>A	ENST00000341948.4	+	1	1088	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGACAGGAGAAATTGAACT	0.398000													53	59					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086055	100086055	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100086055C>T	ENST00000423930.1	+	4	870	c.711C>T	c.(709-711)ccC>ccT	p.P237P	NYAP1_ENST00000454988.1_Silent_p.P180P|NYAP1_ENST00000300179.2_Silent_p.P237P			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	237																	TGGCTGGGCCCCCTCTTGGGG	0.642000													35	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089680	9089680	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9089680G>A	ENST00000397910.4	-	1	2338	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	712	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						TGCAGAGTCTGGTTCAGGGGA	0.493000													24	43					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488934	17488934	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:17488934G>A	ENST00000400588.1	-	1	178	c.71C>T	c.(70-72)tCg>tTg	p.S24L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	24										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCGGGCCACGAAGACAAAGG	0.682000													7	12					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805669	35805669	+	Splice_Site	SNP	T	T	A	rs5814		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:35805669T>A	ENST00000342694.2	+	13	2302		c.e13+2			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)						intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTATGCCAGTGAGGCCCACC	0.527000													32	39					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107708574	107708574	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:107708574C>T	ENST00000388781.3	-	19	2416	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	LAMB4_ENST00000388780.3_Missense_Mutation_p.G778E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G778E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	778	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAGCTGGATCCGACTGAGCC	0.552000													26	51					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549999	21549999	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:21549999C>T	ENST00000298694.4	+	14	3099	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S991F			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	991					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGCCTCAGCTCCTTGCTGCTC	0.721000													6	13					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193395	50193395	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:50193395G>A	ENST00000284509.6	-	21	2324	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S728F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	728					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGGCCATTGGAAAAATTTCT	0.358000													14	33					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156982	156982	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:156982G>A	ENST00000283426.6	+	9	1425	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	459					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCAGCAGCTGGAGCACCTCCG	0.657000													7	2					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656586	656586	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:656586G>A	ENST00000380907.2	-	1	377	c.359C>T	c.(358-360)tCg>tTg	p.S120L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	120										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCCCAGGGACGAGACCAGCTC	0.741000													15	18					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774538	122774538	+	Silent	SNP	C	C	T	rs151167581		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:122774538C>T	ENST00000194130.2	-	8	897	c.858G>A	c.(856-858)acG>acA	p.T286T	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	286						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGAAGGAAAACGTAAACCATG	0.438000													9	37					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226019639	226019639	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:226019639C>T	ENST00000366837.4	+	3	539	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Missense_Mutation_p.H115Y	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	115					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGATACCCTCACTTCAAGAC	0.448000													34	15					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245220	166245220	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:166245220G>A	ENST00000357398.3	+	27	5194	c.4904G>A	c.(4903-4905)cGa>cAa	p.R1635Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1635Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.R1635Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1635Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1635					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1635Q(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGATTGGCCGAATCCTACGT	0.468000													26	70					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223828	67223828	+	Silent	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:67223828G>A	ENST00000438189.2	+	4	485	c.141G>A	c.(139-141)cgG>cgA	p.R47R	CABP4_ENST00000325656.5_Silent_p.R152R			P57796	CABP4_HUMAN	calcium binding protein 4	152					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGCCACCGGGAGCTGGGTG	0.637000													23	52					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31419231	31419231	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:31419231G>A	ENST00000389202.2	+	9	1052	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	335					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATCTATGCAGTTGAGGGTAA	0.542000													14	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076539	9076539	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9076539G>A	ENST00000397910.4	-	3	11110	c.10907C>T	c.(10906-10908)aCt>aTt	p.T3636I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3637	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						TCCAATGACAGTTATACGGCC	0.448000													15	31					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167780	28167780	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:28167780G>A	ENST00000304658.5	-	7	1212	c.712C>T	c.(712-714)Ctt>Ttt	p.L238F	XPO6_ENST00000565698.1_Missense_Mutation_p.L224F	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	238					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCACATCAAGGATGGGAATT	0.483000													24	49					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999944	3999944	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3999944C>T	ENST00000381638.2	-	10	1847	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATTCAGTTCCGGTAGAAAAA	0.358000													10	121					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139269000	139269000	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:139269000C>T	ENST00000395297.1	-	5	470	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	100										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGCGTCTTCCATCTGCAAAA	0.393000										HNSCC(54;0.14)			9	15					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480834	57480834	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:57480834G>A	ENST00000371236.2	-	12	1429	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	DAB1_ENST00000371234.4_Missense_Mutation_p.T389I|DAB1_ENST00000414851.2_Missense_Mutation_p.T371I|DAB1_ENST00000420954.2_Missense_Mutation_p.T387I|DAB1_ENST00000439789.2_Missense_Mutation_p.T303I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.T422I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	422					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCTGGGACGGTGGCAAGGGG	0.582000													18	49					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928729	58928729	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:58928729C>T	ENST00000306910.4	+	4	1367	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	ZNF584_ENST00000593920.1_Silent_p.L237L|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CTTCAGTGTTCTGTCTACCCT	0.438000													21	44					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146560479	146560479	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:146560479G>A	ENST00000281317.5	+	2	1398	c.188G>A	c.(187-189)aGa>aAa	p.R63K	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	63						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCTTAAAGAGAAAATTATGT	0.398000													34	34					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417956	1417956	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:1417956C>T	ENST00000308647.7	+	7	828	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	ATAD3B_ENST00000378741.3_Missense_Mutation_p.R70C|ATAD3B_ENST00000378736.2_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	238							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGGATTCCGTGCCTTTGT	0.577000													29	82					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11990493	11990493	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:11990493G>A	ENST00000434724.2	-	4	785	c.586C>T	c.(586-588)Cca>Tca	p.P196S	GSPT1_ENST00000439887.2_Missense_Mutation_p.P195S|GSPT1_ENST00000420576.2_Missense_Mutation_p.P58S|GSPT1_ENST00000563468.1_Missense_Mutation_p.P58S	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	58					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTAGGTTTTGGGATTTCCTCT	0.488000													5	8					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858189	40858189	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:40858189G>A	ENST00000428826.2	-	16	1796	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	EZH1_ENST00000590783.1_Intron|EZH1_ENST00000590078.1_Missense_Mutation_p.P489S|EZH1_ENST00000585893.1_Missense_Mutation_p.P519S|EZH1_ENST00000435174.1_Missense_Mutation_p.P420S|EZH1_ENST00000592743.1_Missense_Mutation_p.P559S|EZH1_ENST00000415827.2_Missense_Mutation_p.P550S			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	559	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CGACAGCCAGGGAAACGATTC	0.507000													15	51					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464712	2464712	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:2464712A>C	ENST00000278772.4	-	6	1382	c.895T>G	c.(895-897)Tgc>Ggc	p.C299G	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACTCACTGCACACATAAGGC	0.488000													18	42					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27614277	27614277	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:27614277C>T	ENST00000356537.4	-	4	220	c.127G>A	c.(127-129)Gac>Aac	p.D43N	CCDC25_ENST00000539095.1_Intron|CCDC25_ENST00000522915.1_Intron	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	43										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GAGAGTTTGTCCACATGAAAC	0.368000													13	35					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492378	73492378	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:73492378C>T	ENST00000314256.7	+	24	3463	c.3069C>T	c.(3067-3069)ccC>ccT	p.P1023P	KIAA0195_ENST00000579208.1_Silent_p.P674P|KIAA0195_ENST00000375248.5_Silent_p.P1033P	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1023					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)			CCCTGGATCCCCTGTACCCAT	0.632000													23	42					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131046889	131046889	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:131046889A>T	ENST00000320188.4	+	3	527	c.527A>T	c.(526-528)gAg>gTg	p.E176V		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	176					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CTGGACAAGGAGATCTCCCAG	0.512000													6	28					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:77465432C>T	ENST00000282849.5	-	3	673	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCGCTTTTTCCTGCCGTTGT	0.478000													108	150					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16117606	16117606	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:16117606A>C	ENST00000352083.6	-	9	1114	c.1037T>G	c.(1036-1038)tTt>tGt	p.F346C	SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Missense_Mutation_p.F346C|SOX6_ENST00000316399.6_Missense_Mutation_p.F346C|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000396356.3_Missense_Mutation_p.F346C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	346					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATTCCTGCCAAAACGGTCACT	0.418000													16	46					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036268	177036268	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:177036268C>T	ENST00000468418.3	+	4	2655	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	HOXD3_ENST00000249440.3_Missense_Mutation_p.P189S|HOXD3_ENST00000410016.1_Missense_Mutation_p.P189S			P31249	HXD3_HUMAN	homeobox D3	189					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GGACAAGAGCCCGCCAGGCCC	0.647000													14	29					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52416420	52416420	+	Silent	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:52416420C>T	ENST00000420323.2	+	50	8151	c.7890C>T	c.(7888-7890)ctC>ctT	p.L2630L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGTCCTGCTCAAGGCGGGCC	0.582000													58	65					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48256147	48256147	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:48256147G>A	ENST00000400384.2	+	6	2723	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.D352N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	563					cell cycle		ATP binding|MAP kinase activity	p.D563H(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TAAACTGGGCGACCTCAATGG	0.672000													5	17					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:70634091C>T	ENST00000381269.2	-	2	1802	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S350N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S350N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S350N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	350					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493000													17	40					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078819	157078819	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:157078819C>T	ENST00000265007.6	-	1	609	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	SOX30_ENST00000311371.5_Missense_Mutation_p.E90K|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	90					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCGGCTTCCTCGTTCTGG	0.711000													7	5					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975785	44975785	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:44975785G>A	ENST00000340446.4	-	1	697	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	136						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TATCCTGTACGGCTGGTCTGC	0.418000													49	100					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301170	29301170	+	Silent	SNP	T	T	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:29301170T>C	ENST00000378993.1	+	3	871	c.198T>C	c.(196-198)ctT>ctC	p.L66L	IL1RAPL1_ENST00000302196.4_Silent_p.L66L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	66	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATTACTCCCTTGCCCAAAGTG	0.413000													25	33					0	0	1	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309657	1309658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:1309657_1309658insG	ENST00000338370.3	-	2	620_621	c.220_221insC	c.(220-222)ggafs	p.G74fs	AURKAIP1_ENST00000338338.5_Frame_Shift_Ins_p.G74fs|AURKAIP1_ENST00000378853.3_Frame_Shift_Ins_p.G74fs|AURKAIP1_ENST00000321751.5_Frame_Shift_Ins_p.G74fs|AURKAIP1_ENST00000489799.1_5'UTR			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	74					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCTCTCCAGGGGGCTGACG	0.693													20	43	---	---	---	---					
CLSPN	63967	broad.mit.edu	37	1	36219442	36219453	+	In_Frame_Del	DEL	CTTTCACTATGA	CTTTCACTATGA	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:36219442_36219453delCTTTCACTATGA	ENST00000251195.5	-	9	1760_1771	c.1664_1675delTCATAGTGAAAG	c.(1663-1677)gac>g	p.VIVKD555del	CLSPN_ENST00000318121.3_In_Frame_Del_p.VIVKD555del|CLSPN_ENST00000520551.1_In_Frame_Del_p.VIVKD555del|CLSPN_ENST00000373220.3_Intron			Q9HAW4	CLSPN_HUMAN	claspin	555					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGCCCATGTCTTTCACTATGACGTTCACATT	0.481													28	68	---	---	---	---					
HGFAC	3083	broad.mit.edu	37	4	3447064	3447064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:3447064delC	ENST00000382774.3	+	9	1204	c.1089delC	c.(1087-1089)cgfs	p.R363fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R363fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	363	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGTACTGCCGCCTGGAGGCCT	0.677													2	4	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													7	24	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941100	96941100	+	RNA	DEL	A	A	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:96941100delA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						GACCAGCAAGAAAAAAAAAAT	0.378													2	4	---	---	---	---