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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
CGN	57530	broad.mit.edu	37	1	151491340	151491340	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:151491340G>A	uc009wmw.2	+	2	489	c.345G>A	c.(343-345)TCG>TCA	p.S115S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	109	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCCCTCGCAGAGCAGCA	0.602		NA											6	16					0	0	0	0
MEF2D	4209	broad.mit.edu	37	1	156450662	156450662	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:156450662G>T	uc001fpc.2	-	4	750	c.360C>A	c.(358-360)GCC>GCA	p.A120A	MEF2D_uc001fpb.2_Silent_p.A120A|MEF2D_uc001fpd.2_Silent_p.A120A|MEF2D_uc001fpe.1_Silent_p.A120A|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	120					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			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCTCGCTGGCGCGTCGGT	0.692		NA									OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	55					2.76e-19	3.49e-19	1	0
SPTA1	6708	broad.mit.edu	37	1	158607998	158607998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:158607998C>A	uc001fst.1	-	36	5213	c.5014G>T	c.(5014-5016)GAT>TAT	p.D1672Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1672	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GAGAGCAAATCTTCAGCCAAT	0.418		NA											15	24					3.41e-10	4.26e-10	1	0
ITLN1	55600	broad.mit.edu	37	1	160853237	160853237	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:160853237G>A	uc001fxc.2	-	3	254	c.138C>T	c.(136-138)GAC>GAT	p.D46D		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	46	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGGACATTCGTCTTTGATTT	0.423		NA											21	35					0	0	0	0
PRRX1	5396	broad.mit.edu	37	1	170695426	170695426	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:170695426C>T	uc001ghf.2	+	3	530	c.483C>T	c.(481-483)AAC>AAT	p.N161N	PRRX1_uc001ghe.2_Silent_p.N161N	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	161						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAATAAAAACGCTTCCCTCC	0.537		NA											16	27					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200959778	200959778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:200959778G>A	uc001gvs.1	-	19	3078	c.2761C>T	c.(2761-2763)CGA>TGA	p.R921*	KIF21B_uc001gvr.1_Nonsense_Mutation_p.R921*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R921*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R921*	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	921					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ATGATCCGTCGCTCCAGGGAC	0.562		NA											6	41					0	0	0	0
ARV1	64801	broad.mit.edu	37	1	231131561	231131562	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131561_231131562GA>AC	uc009xfl.1	+	4	533_534	c.504_505GA>AC	c.(502-507)ATGACG>ATACCG	p.168_169MT>IP	ARV1_uc001huh.2_Missense_Mutation_p.168_169MT>IP	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog	168_169					sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AACGGCCCATGACGGCAAAAAA	0.381		NA											8	37					0	0	0	0
DNAJC1	64215	broad.mit.edu	37	10	22209789	22209789	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:22209789A>G	uc001irc.2	-	4	762	c.475T>C	c.(475-477)TTC>CTC	p.F159L	DNAJC1_uc001ird.2_Missense_Mutation_p.F45L	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	159	Helical; (Potential).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGAATAATGAACAAGAGTAAT	0.408		NA											3	85					0	0	0	0
PPA1	5464	broad.mit.edu	37	10	71974336	71974336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:71974336C>A	uc001jqv.1	-	5	411	c.304G>T	c.(304-306)GAA>TAA	p.E102*		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	102					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						CCTGGGTCTTCCCAAGTCTAA	0.363		NA											10	43					2.18e-05	2.63e-05	1	0
SFTPA1	653509	broad.mit.edu	37	10	81373513	81373513	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:81373513A>G	uc001kap.2	+	6	512	c.391A>G	c.(391-393)ATA>GTA	p.I131V	SFTPA1_uc001kaq.2_Missense_Mutation_p.I131V|SFTPA1_uc009xry.2_Missense_Mutation_p.I146V|SFTPA1_uc001kar.2_Missense_Mutation_p.I131V|SFTPA1_uc010qlt.1_Missense_Mutation_p.I72V|SFTPA1_uc009xrz.2_Missense_Mutation_p.I61V|SFTPA1_uc009xsa.2_Missense_Mutation_p.I131V|SFTPA1_uc009xsf.2_RNA	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	surfactant protein A1 isoform 1	131					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGGCTCCATAATGACAGT	0.572		NA											24	146					0	0	0	0
ACTA2	59	broad.mit.edu	37	10	90707026	90707026	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:90707026C>T	uc001kfp.2	-	3	363	c.247G>A	c.(247-249)GAC>AAC	p.D83N	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.D38N|ACTA2_uc001kfq.2_Missense_Mutation_p.D83N|ACTA2_uc010qmz.1_Missense_Mutation_p.D83N	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	83					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTTCCATGTCGTCCCAGTTG	0.502		NA											28	141					0	0	0	0
PDE6C	5146	broad.mit.edu	37	10	95415576	95415576	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:95415576C>T	uc001kiu.3	+	16	2133	c.1995C>T	c.(1993-1995)TTC>TTT	p.F665F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	665					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TTCATTTGTTCGAGGTCGCAA	0.348		NA											52	113					0	0	0	0
RRP12	23223	broad.mit.edu	37	10	99130758	99130758	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:99130758G>C	uc001knf.2	-	21	2563	c.2424C>G	c.(2422-2424)CTC>CTG	p.L808L	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.L526L|RRP12_uc010qou.1_Silent_p.L747L|RRP12_uc009xvn.2_Silent_p.L708L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	808						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTGCACGAAGAGGGCCCCGG	0.667		NA											8	30					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	106960922	106960922	+	Silent	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:106960922T>A	uc001kyi.1	+	16	2399	c.2172T>A	c.(2170-2172)CGT>CGA	p.R724R	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	724	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAAGAAACGTAAGCCAGGAG	0.468		NA											10	71					0	0	0	0
VWA2	340706	broad.mit.edu	37	10	116045996	116045996	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:116045996T>C	uc001lbl.1	+	11	1617	c.1296T>C	c.(1294-1296)CGT>CGC	p.R432R	VWA2_uc001lbk.1_Silent_p.R432R|VWA2_uc009xyf.1_Silent_p.R128R	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	432	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCAGAGCGTGGCTTCGGGA	0.662		NA											13	90					0	0	0	0
IKZF5	64376	broad.mit.edu	37	10	124753508	124753508	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:124753508T>G	uc001lha.2	-	5	1347	c.1048A>C	c.(1048-1050)ACC>CCC	p.T350P	IKZF5_uc001lgz.2_Missense_Mutation_p.T188P	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGGGCTGGGGTGCTTGGCTGG	0.547		NA											10	68					0	0	0	0
OR51I2	390064	broad.mit.edu	37	11	5475596	5475596	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:5475596G>C	uc010qzf.1	+	1	878	c.878G>C	c.(877-879)AGC>ACC	p.S293T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATTTATAGCGCCAAGACA	0.443		NA											8	151					0	0	0	0
CNGA4	1262	broad.mit.edu	37	11	6261383	6261383	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:6261383C>T	uc001mco.2	+	4	466	c.359C>T	c.(358-360)GCT>GTT	p.A120V	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A80V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	120	Helical; Name=H3; (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGACCTGGCTTCCCTGATG	0.627		NA											56	141					0	0	0	0
OR10A6	390093	broad.mit.edu	37	11	7949672	7949672	+	Missense_Mutation	SNP	C	C	T	rs145835770		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:7949672C>T	uc010rbh.1	-	1	538	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(1)		ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGGGGTTTCACAAGATATA	0.363		NA											6	33					0	0	0	0
OSBP	5007	broad.mit.edu	37	11	59376031	59376031	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:59376031C>G	uc001noc.1	-	3	1228	c.748G>C	c.(748-750)GAG>CAG	p.E250Q		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488		NA											29	65					0	0	0	0
MS4A5	64232	broad.mit.edu	37	11	60197290	60197290	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:60197290A>T	uc001npo.2	+	1	229	c.143A>T	c.(142-144)AAA>ATA	p.K48I		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	48	Cytoplasmic (Potential).					integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2						AGAAAAATGAAAATCTTAGGG	0.418		NA											4	73					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62286423	62286423	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:62286423C>G	uc001ntl.2	-	5	15766	c.15466G>C	c.(15466-15468)GAG>CAG	p.E5156Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5156					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTCACCCTCTATTTTTGGC	0.507		NA											11	68					0	0	0	0
ANO1	55107	broad.mit.edu	37	11	69933944	69933944	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:69933944C>T	uc001opj.2	+	2	500	c.195C>T	c.(193-195)ATC>ATT	p.I65I	ANO1_uc001opk.1_Silent_p.I37I|ANO1_uc001opl.1_RNA	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	65	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TGGACTACATCCTGGTGTACC	0.617		NA											6	27					0	0	0	0
FCHSD2	9873	broad.mit.edu	37	11	72554523	72554523	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:72554523C>T	uc009ytl.2	-	15	1719	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	FCHSD2_uc010rrg.1_Missense_Mutation_p.E364K|FCHSD2_uc001oth.3_Missense_Mutation_p.E444K|FCHSD2_uc001oti.2_Missense_Mutation_p.E459K|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	500	SH3 1.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTCCATCTTCAATCACTTCT	0.403		NA											19	98					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92085885	92085885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:92085885C>T	uc001pdj.3	+	1	624	c.607C>T	c.(607-609)CTC>TTC	p.L203F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	203	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGTTGATCTCTTTTCAGT	0.408		NA								TCGA Ovarian(4;0.039)			14	76					0	0	0	0
OAF	220323	broad.mit.edu	37	11	120082137	120082137	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:120082137G>A	uc001pxb.2	+	1	391	c.150G>A	c.(148-150)GCG>GCA	p.A50A		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	50											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCCTGCAGGCGGACAGCGACG	0.637		NA											3	13					0	0	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839602	128839602	+	Missense_Mutation	SNP	C	C	T	rs138669502		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:128839602C>T	uc009zcp.2	-	22	5464	c.5464G>A	c.(5464-5466)GAG>AAG	p.E1822K	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E781K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1473K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1822	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TCCTCTCCCTCGGGACTGATG	0.577		NA											17	69					0	0	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993939	1993939	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:1993939A>T	uc001qjp.2	-	11	1498	c.1267T>A	c.(1267-1269)TGT>AGT	p.C423S	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.C342S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	423	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCACCTTACAGTCTGGCCAG	0.582		NA											7	20					0	0	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591510	46591510	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:46591510C>G	uc001rpa.2	-	16	1613	c.1355G>C	c.(1354-1356)AGA>ACA	p.R452T	SLC38A1_uc001rpb.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpc.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpd.2_Missense_Mutation_p.R452T|SLC38A1_uc001rpe.2_Missense_Mutation_p.R452T|SLC38A1_uc009zkj.1_Missense_Mutation_p.R452T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	452	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	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)			TACCCAAATTCTTTGAGTTCC	0.328		NA											19	60					0	0	0	0
SLC11A2	4891	broad.mit.edu	37	12	51382165	51382165	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:51382165C>T	uc001rxe.3	-	16	1726	c.1629G>A	c.(1627-1629)ACG>ACA	p.T543T	SLC11A2_uc001rxd.3_Silent_p.T392T|SLC11A2_uc001rxc.3_Silent_p.T543T|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Silent_p.T156T|SLC11A2_uc010smx.1_Silent_p.T539T|SLC11A2_uc001rxh.1_Silent_p.T543T|SLC11A2_uc001rxj.1_Silent_p.T543T|SLC11A2_uc001rxi.2_Silent_p.T543T|SLC11A2_uc001rxk.1_Silent_p.T572T|SLC11A2_uc010smy.1_Silent_p.T506T	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	543	Cytoplasmic (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						AGATGCTTACCGTATGCCCAC	0.493		NA											5	75					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221128	56221128	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56221128C>T	uc001shx.1	-	2	1519	c.1315G>A	c.(1315-1317)GAG>AAG	p.E439K	DNAJC14_uc001shu.1_Missense_Mutation_p.E439K|DNAJC14_uc009zob.1_Missense_Mutation_p.E439K|DNAJC14_uc001shy.1_Missense_Mutation_p.E439K	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	439					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AGCTCATCCTCAGGAACCCCA	0.527		NA											12	172					0	0	0	0
CS	1431	broad.mit.edu	37	12	56677625	56677625	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56677625C>G	uc001sks.1	-	4	408	c.218G>C	c.(217-219)AGA>ACA	p.R73T	CS_uc010sql.1_Missense_Mutation_p.R60T|CS_uc001skr.1_Missense_Mutation_p.R7T|CS_uc001skt.1_Missense_Mutation_p.R28T|CS_uc010sqm.1_Missense_Mutation_p.R7T	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	73					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTTCATGCCTCTCATGCCACC	0.373		NA											5	25					0	0	0	0
OS9	10956	broad.mit.edu	37	12	58113926	58113926	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:58113926C>T	uc001spj.2	+	13	1704	c.1645C>T	c.(1645-1647)CGT>TGT	p.R549C	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.R534C|OS9_uc001spl.2_Intron|OS9_uc001spm.2_Intron|OS9_uc001spn.2_Intron|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Intron	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	549					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACCAAGCTCCGTCTCGGAGG	0.572		NA											29	103					0	0	0	0
C12orf56	115749	broad.mit.edu	37	12	64746823	64746823	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:64746823G>A	uc001ssa.3	-	2	266	c.266C>T	c.(265-267)CCG>CTG	p.P89L	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	89											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAAAAATTCCGGGTAATCATC	0.343		NA											6	65					0	0	0	0
CPSF6	11052	broad.mit.edu	37	12	69652600	69652600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:69652600C>T	uc001sut.3	+	6	1035	c.925C>T	c.(925-927)CCA>TCA	p.P309S	CPSF6_uc001suu.3_Missense_Mutation_p.P346S|CPSF6_uc010stk.1_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	309	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCTCCTGGCCCACCACCTCC	0.632		NA											20	90					0	0	0	0
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:123915096C>T	uc001uey.1	-	2	747	c.450G>A	c.(448-450)TCG>TCA	p.S150S		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582		NA											9	155					0	0	0	0
EP400	57634	broad.mit.edu	37	12	132514446	132514446	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:132514446C>T	uc001ujn.2	+	27	5617	c.5582C>T	c.(5581-5583)TCA>TTA	p.S1861L	EP400_uc001ujl.2_Missense_Mutation_p.S1860L|EP400_uc001ujm.2_Missense_Mutation_p.S1780L|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1897					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CAGTTCGACTCAGGTATGCGG	0.647		NA											9	36					0	0	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306539	133306539	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:133306539C>G	uc001ukx.2	-	11	2276	c.2209G>C	c.(2209-2211)GAT>CAT	p.D737H	ANKLE2_uc009zyw.1_Missense_Mutation_p.D92H	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	737						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCAGTTTATCAAACTCAACA	0.473		NA											9	124					0	0	0	0
COL4A2	1284	broad.mit.edu	37	13	111111187	111111187	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr13:111111187C>A	uc001vqx.2	+	22	1791	c.1502C>A	c.(1501-1503)CCC>CAC	p.P501H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	501	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCAGGACCCAAGGGCTTC	0.637		NA											13	89					7.93e-07	9.65e-07	1	0
MYH6	4624	broad.mit.edu	37	14	23858093	23858093	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:23858093G>A	uc001wjv.2	-	29	4217	c.4150C>T	c.(4150-4152)CGG>TGG	p.R1384W	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1384	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCAGTCCGCTGAATGGCG	0.622		NA											45	88					0	0	0	0
NUMB	8650	broad.mit.edu	37	14	73743879	73743879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:73743879G>A	uc001xny.1	-	13	1683	c.1363C>T	c.(1363-1365)CAG>TAG	p.Q455*	NUMB_uc010aro.1_Nonsense_Mutation_p.Q260*|NUMB_uc010arp.1_Nonsense_Mutation_p.Q249*|NUMB_uc010arq.1_Nonsense_Mutation_p.Q309*|NUMB_uc010arr.1_Nonsense_Mutation_p.Q298*|NUMB_uc001xoa.1_Nonsense_Mutation_p.Q407*|NUMB_uc001xnz.1_Nonsense_Mutation_p.Q444*|NUMB_uc001xob.1_Nonsense_Mutation_p.Q396*|NUMB_uc001xod.1_Nonsense_Mutation_p.Q407*|NUMB_uc001xoc.1_Nonsense_Mutation_p.Q455*|NUMB_uc010ars.1_Nonsense_Mutation_p.Q444*|NUMB_uc010ttz.1_Nonsense_Mutation_p.Q153*|NUMB_uc001xoe.2_RNA	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	455					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCCTGGGGCTGCTGAGCCCGG	0.607		NA											15	39					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102506067	102506067	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:102506067G>T	uc001yks.2	+	62	11852	c.11688G>T	c.(11686-11688)GTG>GTT	p.V3896V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3896					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGGGCACCGTGGGGTAAGAGC	0.483		NA											15	84					1.05e-09	1.31e-09	1	0
ASPG	374569	broad.mit.edu	37	14	104571696	104571696	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:104571696C>T	uc001yoq.1	+	10	1142	c.1082C>T	c.(1081-1083)ACG>ATG	p.T361M	ASPG_uc001yoo.1_Missense_Mutation_p.T389M|ASPG_uc001yop.1_Missense_Mutation_p.T361M|ASPG_uc001yor.1_Missense_Mutation_p.T361M	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	361					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GGGGAGATGACGCCACCCTCG	0.672		NA											5	43					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26825502	26825502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:26825502G>A	uc001zaz.2	-	6	788	c.646C>T	c.(646-648)CAC>TAC	p.H216Y	GABRB3_uc010uae.1_Missense_Mutation_p.H131Y|GABRB3_uc001zba.2_Missense_Mutation_p.H216Y|GABRB3_uc001zbb.2_Missense_Mutation_p.H272Y	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	216	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCAGACGGTGCTCCACGATG	0.567		NA											15	81					0	0	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44816367	44816367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:44816367G>C	uc001ztr.2	+	13	1812	c.1396G>C	c.(1396-1398)GAT>CAT	p.D466H	CTDSPL2_uc001zts.2_Missense_Mutation_p.D466H|CTDSPL2_uc001ztt.2_Missense_Mutation_p.D466H|CTDSPL2_uc010bdv.2_Missense_Mutation_p.D394H	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	466							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCTGCCCCCAGATTAAGTACA	0.383		NA											3	37					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72190735	72190735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:72190735C>T	uc002atl.3	-	25	4582	c.4109G>A	c.(4108-4110)CGG>CAG	p.R1370Q	MYO9A_uc010biq.2_Missense_Mutation_p.R990Q|MYO9A_uc002atn.1_Missense_Mutation_p.R1351Q|MYO9A_uc002atk.2_Missense_Mutation_p.R94Q|MYO9A_uc002atm.1_Missense_Mutation_p.R94Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						GGCATTGTCCCGTGAATCAAA	0.443		NA											17	96					0	0	0	0
C15orf42	90381	broad.mit.edu	37	15	90168550	90168550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90168550C>T	uc002boe.2	+	20	5009	c.5009C>T	c.(5008-5010)TCC>TTC	p.S1670F	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1670					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGACACCATCCCCCAAGCAC	0.607		NA											12	57					0	0	0	0
C15orf42	90381	broad.mit.edu	37	15	90169002	90169002	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90169002G>C	uc002boe.2	+	20	5461	c.5461G>C	c.(5461-5463)GAG>CAG	p.E1821Q	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1821					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGAGACGAAGAGGTGTTTGT	0.478		NA											22	145					0	0	0	0
CLCN7	1186	broad.mit.edu	37	16	1510884	1510884	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:1510884G>A	uc002clv.2	-	5	527	c.417C>T	c.(415-417)CTC>CTT	p.L139L	CLCN7_uc002clw.2_Silent_p.L115L	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	139	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				AGCAGGCCACGAGGCCCGTGA	0.642		NA											18	50					0	0	0	0
CLDN9	9080	broad.mit.edu	37	16	3063471	3063471	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:3063471C>T	uc010uwo.1	+	1	1015	c.108C>T	c.(106-108)ATC>ATT	p.I36I		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	36	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CCGCCTTCATCGGCAACAGCA	0.657		NA											18	81					0	0	0	0
A2BP1	54715	broad.mit.edu	37	16	7568266	7568266	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:7568266G>A	uc002cys.2	+	5	1133	c.145G>A	c.(145-147)GCG>ACG	p.A49T	A2BP1_uc010buf.1_Missense_Mutation_p.A49T|A2BP1_uc002cyr.1_Missense_Mutation_p.A49T|A2BP1_uc002cyt.2_Missense_Mutation_p.A49T|A2BP1_uc010uxz.1_Missense_Mutation_p.A92T|A2BP1_uc010uya.1_Missense_Mutation_p.A85T|A2BP1_uc002cyv.1_Missense_Mutation_p.A49T|A2BP1_uc010uyb.1_Missense_Mutation_p.A49T|A2BP1_uc002cyw.2_Missense_Mutation_p.A69T|A2BP1_uc002cyy.2_Missense_Mutation_p.A69T|A2BP1_uc002cyx.2_Missense_Mutation_p.A69T|A2BP1_uc010uyc.1_Missense_Mutation_p.A69T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TCCCCACCCCGCGCCAGAGTA	0.662		NA											52	134					0	0	0	0
ABCC1	4363	broad.mit.edu	37	16	16184309	16184309	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:16184309C>T	uc010bvi.2	+	19	2683	c.2508C>T	c.(2506-2508)GAC>GAT	p.D836D	ABCC1_uc010bvj.2_Silent_p.D777D|ABCC1_uc010bvk.2_Silent_p.D780D|ABCC1_uc010bvl.2_Silent_p.D836D|ABCC1_uc010bvm.2_Silent_p.D721D|ABCC1_uc002del.3_Silent_p.D720D	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	836	ABC transporter 1.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGCAGGTGGACGTCATCATCG	0.602		NA											5	39					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:20999081G>C	uc010vbe.1	-	46	6816	c.6816C>G	c.(6814-6816)GTC>GTG	p.V2272V	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483		NA											8	60					0	0	0	0
SPN	6693	broad.mit.edu	37	16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:29675887C>T	uc002dtm.2	+	2	974	c.838C>T	c.(838-840)CGG>TGG	p.R280W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.R280W|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	280	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GTGGCGCCGGCGGCAGAAGCG	0.687		NA											6	27					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7577100T>C	uc002gim.2	-	8	1032	c.838A>G	c.(838-840)AGA>GGA	p.R280G	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148G|TP53_uc010cng.1_Missense_Mutation_p.R148G|TP53_uc002gii.1_Missense_Mutation_p.R148G|TP53_uc010cnh.1_Missense_Mutation_p.R280G|TP53_uc010cni.1_Missense_Mutation_p.R280G|TP53_uc002gij.2_Missense_Mutation_p.R280G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGCCGGTCTCTCCCAGGACAG	0.542		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			18	13					0	0	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916484	7916484	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7916484C>T	uc002gjt.2	+	11	2251	c.2177C>T	c.(2176-2178)GCC>GTC	p.A726V		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	726	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGAACGCTGGCCGGCGACGTC	0.657		NA											4	20					0	0	0	0
HAP1	9001	broad.mit.edu	37	17	39881315	39881315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:39881315C>A	uc002hxm.1	-	12	1666	c.1654G>T	c.(1654-1656)GAA>TAA	p.E552*	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E500*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E483*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E475*	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	552	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTGAAATCTTCCCCCCGCATG	0.617		NA											43	297					2.62e-09	3.24e-09	1	0
GDPD1	284161	broad.mit.edu	37	17	57350187	57350187	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:57350187G>A	uc002ixk.1	+	9	949	c.812G>A	c.(811-813)CGA>CAA	p.R271Q	GDPD1_uc002ixj.2_Missense_Mutation_p.R271Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	271	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAACTGCTCGAGGCATTCAA	0.353		NA											46	61					0	0	0	0
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:59112065C>T	uc002iyv.3	+	18	1830	c.1721C>T	c.(1720-1722)TCG>TTG	p.S574L	BCAS3_uc010wow.1_Missense_Mutation_p.S346L|BCAS3_uc002iyu.3_Missense_Mutation_p.S559L|BCAS3_uc002iyw.3_Missense_Mutation_p.S555L|BCAS3_uc002iyy.3_Missense_Mutation_p.S330L|BCAS3_uc002iyz.3_Missense_Mutation_p.S128L|BCAS3_uc002iza.3_Missense_Mutation_p.S113L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	574						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348		NA											16	55					0	0	0	0
SRP68	6730	broad.mit.edu	37	17	74060213	74060213	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:74060213C>G	uc002jqk.1	-	4	440	c.405G>C	c.(403-405)TGG>TGC	p.W135C	SRP68_uc010wsu.1_Missense_Mutation_p.W34C|SRP68_uc002jql.1_Missense_Mutation_p.W97C	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	135					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						TGGCGTAGCTCCAGGCTCTTT	0.493		NA											16	130					0	0	0	0
CBX4	8535	broad.mit.edu	37	17	77808429	77808429	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808429G>A	uc002jxe.2	-	5	1175	c.1012C>T	c.(1012-1014)CCG>TCG	p.P338S		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGCTGCGGATCGCTAACC	0.662		NA									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	39					0	0	0	0
CBX4	8535	broad.mit.edu	37	17	77808470	77808470	+	Missense_Mutation	SNP	G	G	A	rs150413647		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808470G>A	uc002jxe.2	-	5	1134	c.971C>T	c.(970-972)CCG>CTG	p.P324L		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	324	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.P324L(1)|p.P324S(1)		skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTCTTGGGCGGCGCCTCCAC	0.672		NA									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0	0
CABYR	26256	broad.mit.edu	37	18	21723218	21723218	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:21723218A>G	uc002kux.2	+	2	292	c.140A>G	c.(139-141)TAT>TGT	p.Y47C	CABYR_uc010xbb.1_Intron|CABYR_uc002kuy.2_Missense_Mutation_p.Y47C|CABYR_uc002kuz.2_Missense_Mutation_p.Y47C|CABYR_uc002kva.2_Missense_Mutation_p.Y47C|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Missense_Mutation_p.Y47C	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	47	RIIa.				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTTACTATGTATAGAGGTTTG	0.343		NA											7	28					0	0	0	0
TCF4	6925	broad.mit.edu	37	18	52896157	52896157	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:52896157C>G	uc002lfz.2	-	18	2400	c.1788G>C	c.(1786-1788)AAG>AAC	p.K596N	TCF4_uc002lfw.3_Missense_Mutation_p.K440N|TCF4_uc010xdu.1_Missense_Mutation_p.K466N|TCF4_uc010xdv.1_Missense_Mutation_p.K466N|TCF4_uc002lfx.2_Missense_Mutation_p.K529N|TCF4_uc010xdw.1_Missense_Mutation_p.K466N|TCF4_uc002lfy.2_Missense_Mutation_p.K554N|TCF4_uc010xdx.1_Missense_Mutation_p.K572N|TCF4_uc010dph.1_Missense_Mutation_p.K600N|TCF4_uc010xdy.1_Missense_Mutation_p.K576N|TCF4_uc002lga.2_Missense_Mutation_p.K702N|TCF4_uc002lgb.1_Missense_Mutation_p.K436N|TCF4_uc010dpi.2_Missense_Mutation_p.K606N|TCF4_uc002lfv.2_Missense_Mutation_p.K379N	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	596	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTTGTCACTCTTGAGGTGGA	0.622		NA											21	83					0	0	0	0
ILVBL	10994	broad.mit.edu	37	19	15226688	15226688	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:15226688G>A	uc002nam.2	-	14	1708	c.1587C>T	c.(1585-1587)ATC>ATT	p.I529I	ILVBL_uc010xof.1_Silent_p.I170I|ILVBL_uc010dzw.2_Silent_p.I422I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	529	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						TATCAAATTCGATGAGGCTGT	0.582		NA											17	29					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17010309	17010309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:17010309G>A	uc002nfb.2	-	37	4998	c.4966C>T	c.(4966-4968)CGA>TGA	p.R1656*	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Nonsense_Mutation_p.R121*	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1609						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AAGAGCACTCGGCGTCCAGCC	0.577		NA											7	48					0	0	0	0
MAST3	23031	broad.mit.edu	37	19	18232697	18232697	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:18232697G>A	uc002nhz.3	+	4	198	c.198G>A	c.(196-198)TCG>TCA	p.S66S		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	66							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GGAATTTCTCGGCTGCCTCTG	0.642		NA											12	40					0	0	0	0
ZFP112	7771	broad.mit.edu	37	19	44901376	44901376	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:44901376C>T	uc010xwz.1	-	2	90	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ZNF285_uc010xxa.1_Missense_Mutation_p.M1I|ZNF285_uc002ozd.3_Missense_Mutation_p.M1I	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 2	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GGAACTTAATCATACCGTCTT	0.373		NA											8	161					0	0	0	0
SHANK1	50944	broad.mit.edu	37	19	51218989	51218989	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:51218989T>A	uc002psx.1	-	3	479	c.460_splice	c.e3-1	p.F154_splice		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTATCGGAACTGAGGTCAAGG	0.532		NA											58	70					0	0	0	0
NLRP2	55655	broad.mit.edu	37	19	55493937	55493937	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:55493937G>C	uc002qij.2	+	6	957	c.871G>C	c.(871-873)GAT>CAT	p.D291H	NLRP2_uc010yfp.1_Missense_Mutation_p.D268H|NLRP2_uc010esn.2_Missense_Mutation_p.D267H|NLRP2_uc010eso.2_Missense_Mutation_p.D288H|NLRP2_uc010esp.2_Missense_Mutation_p.D269H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	291	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGACGGCTTTGATGAGCTGGG	0.567		NA											7	72					0	0	0	0
ZNF418	147686	broad.mit.edu	37	19	58438123	58438123	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:58438123G>C	uc002qqs.1	-	4	1718	c.1426C>G	c.(1426-1428)CAC>GAC	p.H476D	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H391D	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	476	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCAGTGTGAACTCTCTGG	0.448		NA											49	80					0	0	0	0
ALK	238	broad.mit.edu	37	2	29474101	29474101	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:29474101C>T	uc002rmy.2	-	12	2981	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	692	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCATGGGGCCCGCTGGCCCCA	0.647		NA	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				4	24					0	0	0	0
RNF103	7844	broad.mit.edu	37	2	86832193	86832193	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:86832193C>G	uc002srn.2	-	4	1800	c.831G>C	c.(829-831)ATG>ATC	p.M277I	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.M138I|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	277					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						CAATATCTGTCATATAACTCT	0.363		NA											5	30					0	0	0	0
KYNU	8942	broad.mit.edu	37	2	143643039	143643039	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:143643039G>A	uc002tvl.2	+	2	233	c.103G>A	c.(103-105)GAG>AAG	p.E35K	KYNU_uc002tvk.2_Missense_Mutation_p.E35K|KYNU_uc010fnm.2_Missense_Mutation_p.E35K	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	35					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			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCACCTAGATGAGGAAGATAA	0.488		NA											12	35					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152512971	152512971	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:152512971T>C	uc010fnx.2	-	49	6382	c.6191A>G	c.(6190-6192)TAC>TGC	p.Y2064C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2064	Nebulin 54.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTACTTGTATTTATACTG	0.328		NA											27	60					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170009349	170009349	+	Missense_Mutation	SNP	C	C	A	rs150382715	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:170009349C>A	uc002ues.2	-	67	12634	c.12421G>T	c.(12421-12423)GTA>TTA	p.V4141L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4141	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGCATTACGTATTTCAGT	0.468		NA											62	185					1.41e-22	1.8e-22	1	0
TTN	7273	broad.mit.edu	37	2	179426874	179426874	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:179426874G>T	uc010zfg.1	-	275	76505	c.76281C>A	c.(76279-76281)AAC>AAA	p.N25427K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N19122K|TTN_uc010zfi.1_Missense_Mutation_p.N19055K|TTN_uc010zfj.1_Missense_Mutation_p.N18930K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26354							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCTCCAGTTCACAGTAG	0.383		NA											8	15					5.18e-06	6.26e-06	1	0
CASP8	841	broad.mit.edu	37	2	202131421	202131421	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:202131421G>C	uc002uxr.1	+	3	421	c.212G>C	c.(211-213)AGA>ACA	p.R71T	CASP8_uc010ftc.1_Missense_Mutation_p.R71T|CASP8_uc002uxo.1_Missense_Mutation_p.R71T|CASP8_uc002uxp.1_Missense_Mutation_p.R71T|CASP8_uc002uxq.1_Missense_Mutation_p.R71T|CASP8_uc002uxs.1_Missense_Mutation_p.R71T|CASP8_uc002uxt.1_Missense_Mutation_p.R130T|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R71T|CASP8_uc002uxw.1_Missense_Mutation_p.R71T|CASP8_uc002uxy.1_Missense_Mutation_p.R71T|CASP8_uc002uxx.1_Missense_Mutation_p.R71T|CASP8_uc010ftf.2_Missense_Mutation_p.R71T	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	71	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CGAATTAATAGACTGGATTTG	0.458		NA								HNSCC(4;0.00038)			18	37					0	0	0	0
ABCB6	10058	broad.mit.edu	37	2	220077120	220077120	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:220077120C>G	uc002vkc.1	-	14	2234	c.1957G>C	c.(1957-1959)GAC>CAC	p.D653H	ABCB6_uc010fwe.1_Missense_Mutation_p.D607H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	653	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAAATGTCCTGCCCATCT	0.552		NA											8	54					0	0	0	0
EPHA4	2043	broad.mit.edu	37	2	222347096	222347096	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:222347096C>G	uc002vmq.2	-	5	1336	c.1294G>C	c.(1294-1296)GTC>CTC	p.V432L	EPHA4_uc002vmr.2_Missense_Mutation_p.V432L|EPHA4_uc010zlm.1_Missense_Mutation_p.V373L|EPHA4_uc010zln.1_Missense_Mutation_p.V432L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	432	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCACAGTGACAGAAACTGAT	0.378		NA											14	140					0	0	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637859	234637859	+	Silent	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637859A>G	uc002vuy.2	+	1	87	c.87A>G	c.(85-87)GGA>GGG	p.G29G	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.G29G	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	29					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGAGAGTGGAAAGGTGTTGG	0.632		NA											7	50					0	0	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637866	234637866	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637866T>C	uc002vuy.2	+	1	94	c.94T>C	c.(94-96)TTG>CTG	p.L32L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.L32L	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	32					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGGAAAGGTGTTGGTGGTGCC	0.637		NA											6	55					0	0	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211607	3211607	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3211607G>A	uc002wig.2	-	9	1236	c.1188C>T	c.(1186-1188)CTC>CTT	p.L396L	SLC4A11_uc010zqe.1_Silent_p.L423L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.L380L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	396	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TCTCGTCATTGAGAGACCCGA	0.627		NA											11	101					0	0	0	0
CENPB	1059	broad.mit.edu	37	20	3766629	3766629	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3766629T>C	uc002wjk.2	-	1	709	c.502A>G	c.(502-504)AGC>GGC	p.S168G	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CCAGTAGTGCTCCCGCCACTG	0.756		NA											2	4					0	0	0	0
ESF1	51575	broad.mit.edu	37	20	13763716	13763716	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:13763716T>G	uc002woj.2	-	2	179	c.71A>C	c.(70-72)GAA>GCA	p.E24A	ESF1_uc002wok.1_Missense_Mutation_p.E24A|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTCTGGCATTTCCCAAAATCT	0.398		NA											14	77					0	0	0	0
MYH7B	57644	broad.mit.edu	37	20	33582110	33582110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:33582110C>T	uc002xbi.1	+	25	2824	c.2732C>T	c.(2731-2733)GCG>GTG	p.A911V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	869	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGCGAGGGGCGCTGGCTGCG	0.662		NA											12	186					0	0	0	0
SULF2	55959	broad.mit.edu	37	20	46386015	46386015	+	Silent	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:46386015C>G	uc002xto.2	-	2	423	c.93G>C	c.(91-93)CTG>CTC	p.L31L	SULF2_uc002xtr.2_Silent_p.L31L|SULF2_uc002xtq.2_Silent_p.L31L|SULF2_uc010ghv.1_Silent_p.L31L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	31					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						ACCTGCCTTTCAGGCGGTGGT	0.627		NA											9	10					0	0	0	0
PRIC285	85441	broad.mit.edu	37	20	62198219	62198219	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:62198219C>G	uc002yfm.2	-	7	3384	c.2492G>C	c.(2491-2493)TGT>TCT	p.C831S	PRIC285_uc002yfl.1_Missense_Mutation_p.C262S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	831					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGAAACGACACAGATGCACCT	0.692		NA											10	68					0	0	0	0
GGT5	2687	broad.mit.edu	37	22	24621019	24621019	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:24621019G>A	uc002zzo.3	-	11	1976	c.1559C>T	c.(1558-1560)CCC>CTC	p.P520L	GGT5_uc002zzp.3_Missense_Mutation_p.P521L|GGT5_uc002zzr.3_Missense_Mutation_p.P488L|GGT5_uc002zzq.3_Missense_Mutation_p.P488L|GGT5_uc011ajm.1_Missense_Mutation_p.P444L	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	520	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						ATGCAGGATGGGGGCTGCAAT	0.612		NA											3	8					0	0	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446049	29446049	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:29446049C>G	uc003aeg.2	+	8	1745	c.1580C>G	c.(1579-1581)TCC>TGC	p.S527C	ZNRF3_uc003aeh.1_Missense_Mutation_p.S527C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	627	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TTCGAGGGCTCCCCGCCTCCC	0.731		NA											19	40					0	0	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497291	39497291	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:39497291G>A	uc011aoh.1	+	3	266	c.200G>A	c.(199-201)GGA>GAA	p.G67E	APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	67					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)					AAGTCCATGGGACTGGACGAA	0.542		NA											24	60					0	0	0	0
HDAC10	83933	broad.mit.edu	37	22	50687866	50687866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:50687866C>T	uc003bkg.2	-	7	954	c.581G>A	c.(580-582)TGG>TAG	p.W194*	HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Nonsense_Mutation_p.W194*|HDAC10_uc003bkh.2_Missense_Mutation_p.G23S|HDAC10_uc003bki.2_Nonsense_Mutation_p.W194*|HDAC10_uc003bkj.2_Intron|HDAC10_uc003bkk.1_5'Flank	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	194	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGCGGTGCCAGGAGAAGTA	0.617		NA											4	46					0	0	0	0
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:7188209G>A	uc003bqm.2	+	2	864	c.590G>A	c.(589-591)CGC>CAC	p.R197H	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R197H|GRM7_uc003bql.2_Missense_Mutation_p.R197H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	197	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522		NA											16	57					0	0	0	0
TRANK1	9881	broad.mit.edu	37	3	36872599	36872599	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:36872599T>C	uc003cgj.2	-	12	6995	c.6693A>G	c.(6691-6693)GAA>GAG	p.E2231E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2781					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCTGGTGGTGTTCTAGATGGA	0.552		NA											38	65					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130285812	130285812	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:130285812G>A	uc010htl.2	+	4	1580	c.1549G>A	c.(1549-1551)GCA>ACA	p.A517T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	517	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAACACAGGCGCAGCACTGAA	0.448		NA											27	93					0	0	0	0
GC	2638	broad.mit.edu	37	4	72623827	72623827	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:72623827C>T	uc003hge.2	-	7	916	c.763G>A	c.(763-765)GCT>ACT	p.A255T	GC_uc003hgd.2_Missense_Mutation_p.A133T|GC_uc010iie.2_Missense_Mutation_p.A255T|GC_uc010iif.2_Missense_Mutation_p.A274T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	255	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	ATATCTTCAGCTAGTGGCAAA	0.373		NA											13	62					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155158175	155158175	+	Silent	SNP	G	G	A	rs141912971		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:155158175G>A	uc003inw.2	-	25	6264	c.6264C>T	c.(6262-6264)AAC>AAT	p.N2088N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2088	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGCATAATTGTTCATATCTT	0.398		NA											18	67					0	0	0	0
CTSO	1519	broad.mit.edu	37	4	156860670	156860670	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:156860670G>A	uc003ipg.2	-	4	454	c.405C>T	c.(403-405)TTC>TTT	p.F135F		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	135					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCACCACGCTGAAGGCCCAGC	0.433		NA											15	87					0	0	0	0
RICTOR	253260	broad.mit.edu	37	5	38950723	38950723	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:38950723G>C	uc003jlp.2	-	31	3251	c.3227C>G	c.(3226-3228)TCT>TGT	p.S1076C	RICTOR_uc003jlo.2_Missense_Mutation_p.S1076C|RICTOR_uc010ivf.2_Missense_Mutation_p.S791C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1076					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TATGGGTCCAGATCGGTCATA	0.368		NA											16	93					0	0	0	0
ITGA2	3673	broad.mit.edu	37	5	52366018	52366018	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:52366018T>C	uc003joy.2	+	17	2306	c.2163T>C	c.(2161-2163)AAT>AAC	p.N721N	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.N645N|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	721	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGAAAACAATGAAAGGTGCC	0.383		NA											3	83					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63257091	63257091	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:63257091G>A	uc011cqt.1	-	1	456	c.456C>T	c.(454-456)CGC>CGT	p.R152R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	152	Cytoplasmic (By similarity).			RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCAGCGGCGCGCCGGGGCG	0.652		NA											22	84					0	0	0	0
THBS4	7060	broad.mit.edu	37	5	79375854	79375854	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:79375854T>C	uc003kgh.2	+	21	2961	c.2638T>C	c.(2638-2640)TCC>CCC	p.S880P	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	880	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				0		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)		GGACAAGGTGTCCTACCGCTG	0.587		NA											4	26					0	0	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865546	140865546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:140865546C>T	uc003lky.1	+	1	806	c.806C>T	c.(805-807)CCG>CTG	p.P269L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P269L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAGACCCGGACCTGGGT	0.542		NA											9	80					0	0	0	0
CAMK2A	815	broad.mit.edu	37	5	149636340	149636340	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:149636340C>T	uc003lru.2	-	5	542	c.327G>A	c.(325-327)GAG>GAA	p.E109E	CAMK2A_uc003lrt.2_Silent_p.E109E|CAMK2A_uc010jhe.2_Silent_p.E89E|CAMK2A_uc010jhf.1_5'Flank	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	109	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCCGCCTCACTGTAAT	0.602		NA											16	34					0	0	0	0
GABRA1	2554	broad.mit.edu	37	5	161277887	161277887	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:161277887G>T	uc010jiw.2	+	3	539	c.71G>T	c.(70-72)AGA>ATA	p.R24I	GABRA1_uc010jix.2_Missense_Mutation_p.R24I|GABRA1_uc010jiy.2_Missense_Mutation_p.R24I|GABRA1_uc003lyx.3_Missense_Mutation_p.R24I|GABRA1_uc010jiz.2_Missense_Mutation_p.R24I|GABRA1_uc010jja.2_Missense_Mutation_p.R24I|GABRA1_uc010jjb.2_Missense_Mutation_p.R24I	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGACTGGAAGAAGGTGGGGA	0.413		NA											14	72					1.37e-15	1.73e-15	1	0
HIST1H3I	8354	broad.mit.edu	37	6	27839968	27839968	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:27839968G>A	uc003njy.2	-	1	132	c.126C>T	c.(124-126)TAC>TAT	p.Y42Y		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	42					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						TGCCGGGGCGGTAGCGGTGGG	0.682		NA											35	78					0	0	0	0
OR2H1	26716	broad.mit.edu	37	6	29430027	29430027	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:29430027A>G	uc003nmi.2	+	3	924	c.481A>G	c.(481-483)ACC>GCC	p.T161A	OR2H1_uc003nmj.1_Missense_Mutation_p.T161A|OR2H1_uc010jri.1_Missense_Mutation_p.T83A	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GACACCATCCACCCTCCACTT	0.537		NA											26	208					0	0	0	0
GABRR2	2570	broad.mit.edu	37	6	89978925	89978925	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:89978925T>C	uc003pnb.2	-	4	400	c.392A>G	c.(391-393)CAT>CGT	p.H131R	GABRR2_uc011dzx.1_Missense_Mutation_p.H7R	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	131	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CTTCCAGTAATGCCGCAGGTA	0.522		NA											39	113					0	0	0	0
FAM26D	221301	broad.mit.edu	37	6	116879126	116879126	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:116879126G>C	uc003pxa.2	+	4	567	c.268G>C	c.(268-270)GAA>CAA	p.E90Q	FAM26D_uc003pwz.2_Missense_Mutation_p.E47Q|FAM26D_uc010ked.2_Missense_Mutation_p.E89Q	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	hypothetical protein LOC221301	233						integral to membrane					0		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGAACTCTTTGAACAAGCAGC	0.517		NA											22	86					0	0	0	0
CENPW	387103	broad.mit.edu	37	6	126661543	126661543	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:126661543T>C	uc003qao.2	+	1	291	c.124T>C	c.(124-126)TTG>CTG	p.L42L	CENPW_uc003qap.3_RNA	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	hypothetical protein LOC387103	42						chromosome, centromeric region|nucleus	DNA binding				0						TGGTGACTTATTGGTGAGATT	0.512		NA											16	78					0	0	0	0
SF3B5	83443	broad.mit.edu	37	6	144416375	144416375	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:144416375C>G	uc003qkr.1	-	1	380	c.260G>C	c.(259-261)TGA>TCA	p.*87S		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	SF3b10	87					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex					0				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGCAGAGTCTCAGTTCTCCTC	0.567		NA											21	133					0	0	0	0
C6orf70	55780	broad.mit.edu	37	6	170155405	170155405	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:170155405G>A	uc003qxg.1	+	3	235	c.202G>A	c.(202-204)GTG>ATG	p.V68M	C6orf70_uc011ehb.1_Translation_Start_Site|C6orf70_uc003qxh.1_Missense_Mutation_p.V68M|C6orf70_uc010kky.1_Translation_Start_Site	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	68						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTGGGGAAGCGTGAGGCTGCT	0.443		NA											16	132					0	0	0	0
ETV1	2115	broad.mit.edu	37	7	13950933	13950933	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:13950933C>G	uc011jxq.1	-	10	1542	c.803_splice	c.e10-1	p.E268_splice	ETV1_uc011jxn.1_Splice_Site_p.E228_splice|ETV1_uc011jxo.1_Splice_Site_p.E165_splice|ETV1_uc011jxp.1_Splice_Site_p.E210_splice|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Splice_Site|ETV1_uc011jxr.1_Splice_Site_p.E250_splice|ETV1_uc011jxs.1_Splice_Site_p.E250_splice|ETV1_uc010ktv.2_Splice_Site_p.E137_splice	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						CTAGGCACTTCTGAAAGAGGA	0.463		NA	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								7	26					0	0	0	0
RNF148	378925	broad.mit.edu	37	7	122342351	122342351	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:122342351C>T	uc003vkk.1	-	1	671	c.454G>A	c.(454-456)GCG>ACG	p.A152T	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.A54T	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	152	PA.					integral to membrane	zinc ion binding				0						ATCATCACCGCGACTATATTT	0.463		NA											92	223					0	0	0	0
EXOC4	60412	broad.mit.edu	37	7	133682292	133682292	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:133682292G>C	uc003vrk.2	+	15	2289	c.2254G>C	c.(2254-2256)GTG>CTG	p.V752L	EXOC4_uc011kpo.1_Missense_Mutation_p.V651L|EXOC4_uc003vrl.2_Missense_Mutation_p.V362L|EXOC4_uc011kpp.1_Missense_Mutation_p.V284L|EXOC4_uc011kpq.1_Missense_Mutation_p.V40L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	752					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TCTCCCCCCAGTGTCAGAGCA	0.463		NA											14	36					0	0	0	0
OR2A2	442361	broad.mit.edu	37	7	143807496	143807496	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:143807496C>G	uc011ktz.1	+	1	821	c.821C>G	c.(820-822)TCC>TGC	p.S274C		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					AAAATGCTGTCCCTGTTTCAC	0.512		NA											64	153					0	0	0	0
XRCC2	7516	broad.mit.edu	37	7	152346214	152346214	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:152346214T>A	uc003wld.2	-	3	442	c.356A>T	c.(355-357)TAC>TTC	p.Y119F		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	119					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACTACTGCAGTACACCAAAAA	0.398		NA						Homologous_recombination					5	53					0	0	0	0
NCAPG2	54892	broad.mit.edu	37	7	158476042	158476042	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:158476042G>A	uc003wnv.1	-	9	1019	c.874C>T	c.(874-876)CAC>TAC	p.H292Y	NCAPG2_uc010lqu.1_Missense_Mutation_p.H84Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.H292Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.H292Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	292					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTATCCCGTGGAACATGAAG	0.438		NA											18	117					0	0	0	0
TUSC3	7991	broad.mit.edu	37	8	15517104	15517104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:15517104G>A	uc003wwt.2	+	4	725	c.515G>A	c.(514-516)GGA>GAA	p.G172E	TUSC3_uc003wwr.2_Missense_Mutation_p.G172E|TUSC3_uc003wws.2_Missense_Mutation_p.G172E|TUSC3_uc003wwu.2_Missense_Mutation_p.G172E|TUSC3_uc003wwv.2_Missense_Mutation_p.G172E|TUSC3_uc003www.2_Missense_Mutation_p.G172E|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G172E	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	172					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		CAAAGAATTGGATTTGCAGCT	0.393		NA											12	77					0	0	0	0
ANK1	286	broad.mit.edu	37	8	41581097	41581097	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:41581097G>T	uc003xok.2	-	8	850	c.766C>A	c.(766-768)CGG>AGG	p.R256R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.R256R|ANK1_uc003xoj.2_Silent_p.R256R|ANK1_uc003xol.2_Silent_p.R256R|ANK1_uc003xom.2_Silent_p.R289R	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	256	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGCAGCCGCACCATGATC	0.647		NA											24	65					5.5e-05	6.6e-05	1	0
MATN2	4147	broad.mit.edu	37	8	99040003	99040003	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:99040003G>A	uc003yic.2	+	14	2533	c.2302G>A	c.(2302-2304)GAC>AAC	p.D768N	MATN2_uc010mbh.1_Missense_Mutation_p.D727N|MATN2_uc003yid.2_Missense_Mutation_p.D768N|MATN2_uc003yie.1_Missense_Mutation_p.D768N|MATN2_uc010mbi.1_Missense_Mutation_p.D601N|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	768	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGTTCACCGACGGACGGGC	0.562		NA											9	60					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113259313T>A	uc003ynu.2	-	64	10317	c.10158A>T	c.(10156-10158)CAA>CAT	p.Q3386H	CSMD3_uc003yns.2_Missense_Mutation_p.Q2588H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3346H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3217H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3386	Extracellular (Potential).|Sushi 27.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTGTAGACCCTTGGAGAAGGT	0.408		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	38					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113585877	113585877	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113585877C>G	uc003ynu.2	-	24	4054	c.3895G>C	c.(3895-3897)GGA>CGA	p.G1299R	CSMD3_uc003yns.2_Missense_Mutation_p.G571R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1259R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1195R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1299	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATCTTTTCCATCATAAATC	0.308		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	44					0	0	0	0
EXT1	2131	broad.mit.edu	37	8	119122780	119122780	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:119122780T>C	uc003yok.1	-	1	1279	c.506A>G	c.(505-507)CAG>CGG	p.Q169R		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	169	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGCACATACTGAGGTGACAA	0.488		NA	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				27	177					0	0	0	0
ENPP2	5168	broad.mit.edu	37	8	120629779	120629779	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:120629779G>C	uc003yot.1	-	6	590	c.504C>G	c.(502-504)ATC>ATG	p.I168M	ENPP2_uc003yos.1_Missense_Mutation_p.I168M|ENPP2_uc010mdd.1_Missense_Mutation_p.I168M	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	168					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCACGGAGAAGATGATTAATG	0.373		NA											8	18					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164784	139164784	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:139164784C>T	uc003yuy.2	-	13	2105	c.1934G>A	c.(1933-1935)AGT>AAT	p.S645N	FAM135B_uc003yux.2_Missense_Mutation_p.S546N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207N|FAM135B_uc003yvb.2_Missense_Mutation_p.S207N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	645										ovary(7)|skin(2)	9	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)			CAGGGTAGAACTTAGTGGATC	0.488		NA								HNSCC(54;0.14)			14	66					0	0	0	0
KCNK9	51305	broad.mit.edu	37	8	140630759	140630759	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:140630759G>A	uc003yvf.1	-	2	931	c.867C>T	c.(865-867)GAC>GAT	p.D289D	KCNK9_uc003yvg.1_Silent_p.D289D|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	289	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTCCGGGACGTCCGCCTTGT	0.657		NA											12	75					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974703	21974703	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:21974703T>G	uc003zpk.2	-	1	336	c.124A>C	c.(124-126)AAT>CAT	p.N42H	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.N42H|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	42					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.N42Y(1)|p.V28_V51del(1)|p.N42T(1)|p.N42D(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTAACTATTCGGTGCGTTG	0.692		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			76	55					0	0	0	0
TXNDC8	255220	broad.mit.edu	37	9	113096542	113096542	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:113096542G>C	uc004bes.2	-	2	132	c.83C>G	c.(82-84)TCT>TGT	p.S28C	TXNDC8_uc011lwl.1_Missense_Mutation_p.S28C	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8	28	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity				0						CCGTTTCGAAGAAAATTGAAC	0.363		NA											7	30					0	0	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295163	295163	+	Missense_Mutation	SNP	G	G	A	rs143642265	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:295163G>A	uc004cpg.2	-	13	1868	c.1667C>T	c.(1666-1668)CCG>CTG	p.P556L	PPP2R3B_uc004cpf.2_Missense_Mutation_p.P157L	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	556					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		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)				GGCGCCCAGCGGTGAGGGCGC	0.726		NA											6	42					0	0	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136646	96136646	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:96136646G>C	uc004efu.3	+	5	912	c.516G>C	c.(514-516)TCG>TCC	p.S172S	DIAPH2_uc004eft.3_Silent_p.S172S|DIAPH2_uc004efs.2_Silent_p.S179S|RPA4_uc004efv.3_5'Flank	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	172	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						AATTACGATCGGGTATATCAG	0.383		NA											15	14					0	0	0	0
AIFM1	9131	broad.mit.edu	37	X	129281541	129281541	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:129281541C>G	uc004evg.2	-	5	710	c.532G>C	c.(532-534)GAA>CAA	p.E178Q	AIFM1_uc011mus.1_Missense_Mutation_p.E178Q|AIFM1_uc004evh.2_Missense_Mutation_p.E174Q|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	178	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5						AACCACAGTTCTTTTGAAAGA	0.413		NA											20	51					0	0	0	0
RERE	473	broad.mit.edu	37	1	8421141	8421142	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:8421141_8421142insG	uc001ape.2	-	19	3235_3236	c.2425_2426insC	c.(2425-2427)CAGfs	p.Q809fs	RERE_uc001apf.2_Frame_Shift_Ins_p.Q809fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.Q541fs|RERE_uc001apd.2_Frame_Shift_Ins_p.Q255fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	809	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gggCGGCCGCTGGGGGTGCAAG	0.574		NA											2	4	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139412593	139412594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:139412593_139412594insGA	uc004chz.2	-	7	1250_1251	c.1250_1251insTC	c.(1249-1251)TCGfs	p.S417fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	417	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTACCCAGCGAGCACTCATC	0.663		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			7	7	---	---	---	---	NA	NA	NA	NA