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
UBE4B	10277	broad.mit.edu	37	1	10207077	10207077	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:10207077G>A	uc001aqs.3	+	19	3233	c.2520G>A	c.(2518-2520)CTG>CTA	p.L840L	UBE4B_uc001aqr.3_Silent_p.L711L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.L295L|UBE4B_uc001aqt.1_Silent_p.L180L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	840					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGAGCTTCCTGAGAAGATGTC	0.527		NA											17	113					0	0	0	0
ZNF436	80818	broad.mit.edu	37	1	23688996	23688996	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:23688996G>A	uc001bgt.2	-	3	1260	c.879C>T	c.(877-879)CTC>CTT	p.L293L	ZNF436_uc001bgu.2_Silent_p.L293L	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGTGTTTGATGAGATCAGATC	0.527		NA											14	144					0	0	0	0
PTPRU	10076	broad.mit.edu	37	1	29644357	29644358	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644357_29644358CG>TC	uc001bru.2	+	26	3751_3752	c.3641_3642CG>TC	c.(3640-3642)CCG>CTC	p.P1214L	PTPRU_uc001brv.2_Missense_Mutation_p.P1210L|PTPRU_uc001brw.2_Missense_Mutation_p.P1204L|PTPRU_uc009vtq.2_Missense_Mutation_p.P1210L|PTPRU_uc009vtr.2_Missense_Mutation_p.P1201L|PTPRU_uc001brx.2_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACGTCCTGCCGCCCGACCGCT	0.629		NA											12	64					0	0	0	0
CCDC24	149473	broad.mit.edu	37	1	44461305	44461305	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:44461305C>T	uc001clj.2	+	7	756	c.585C>T	c.(583-585)TGC>TGT	p.C195C	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.C150C|CCDC24_uc009vxc.2_Silent_p.C159C	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	195	Potential.										0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGGCCTTGCCACCCCTCTG	0.647		NA											3	25					0	0	0	0
HFM1	164045	broad.mit.edu	37	1	91781517	91781517	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:91781517T>A	uc001doa.3	-	28	3095	c.2995A>T	c.(2995-2997)AGT>TGT	p.S999C	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S678C|HFM1_uc001dob.3_Missense_Mutation_p.S187C|HFM1_uc010osv.1_Missense_Mutation_p.S683C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	999	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCGTATCACTATATCTTGTA	0.299		NA											10	48					0	0	0	0
GLMN	11146	broad.mit.edu	37	1	92713516	92713516	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:92713516C>T	uc001dor.2	-	17	1619	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.E488K	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	502					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AAATTATTCTCAATATTTCCA	0.234		NA							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				9	142					0	0	0	0
LPPR4	9890	broad.mit.edu	37	1	99764696	99764696	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:99764696A>G	uc001dse.2	+	4	750	c.644A>G	c.(643-645)TAT>TGT	p.Y215C	LPPR4_uc010oue.1_Missense_Mutation_p.Y215C	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	215							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACCAAACTATACCTCTCTG	0.393		NA											8	94					0	0	0	0
CGN	57530	broad.mit.edu	37	1	151503155	151503155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151503155G>A	uc009wmw.2	+	13	2648	c.2504G>A	c.(2503-2505)CGA>CAA	p.R835Q		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	829	Glu-rich.|Potential.					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)			GTGCTCCGGCGAGGCAAGGCT	0.652		NA											2	5					0	0	0	0
LINGO4	339398	broad.mit.edu	37	1	151774631	151774631	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151774631T>A	uc001ezf.1	-	2	740	c.550A>T	c.(550-552)ACC>TCC	p.T184S		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	184	Extracellular (Potential).|LRR 6.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGTGAGGGTGCTCAACTTG	0.607		NA											17	88					0	0	0	0
FLG2	388698	broad.mit.edu	37	1	152326395	152326395	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:152326395T>C	uc001ezw.3	-	3	3940	c.3867A>G	c.(3865-3867)TCA>TCG	p.S1289S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1289	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTGTTCTGAATGTCTGT	0.468		NA											51	314					0	0	0	0
OR6K6	128371	broad.mit.edu	37	1	158725011	158725011	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:158725011G>A	uc001fsw.1	+	1	406	c.406G>A	c.(406-408)GGT>AGT	p.G136S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	136	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					CCACTCACTTGGTATCACAGA	0.493		NA											5	115					0	0	0	0
CACNA1S	779	broad.mit.edu	37	1	201044689	201044689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:201044689C>T	uc001gvv.2	-	13	2109	c.1882G>A	c.(1882-1884)GGC>AGC	p.G628S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	628	II.|Extracellular (Potential).			YG -> SS (in Ref. 1; AAA51902).|G -> R (in Ref. 2; AAB37235).	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACGGCCCGCCGTAGGCCATG	0.547		NA											17	190					0	0	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793361	217793361	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:217793361C>T	uc001hlf.1	-	2	633	c.537G>A	c.(535-537)CGG>CGA	p.R179R	GPATCH2_uc001hlg.3_Silent_p.R179R	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	179						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GGGTCATTGTCCGTTTGTTAG	0.448		NA											28	186					0	0	0	0
PSEN2	5664	broad.mit.edu	37	1	227069674	227069674	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:227069674G>A	uc009xeo.1	+	4	493	c.66G>A	c.(64-66)TCG>TCA	p.S22S	PSEN2_uc009xep.1_Silent_p.S22S|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	22	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				CCCTAATGTCGGCTGAGAGCC	0.627		NA											13	73					0	0	0	0
ACTN2	88	broad.mit.edu	37	1	236902717	236902717	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:236902717A>G	uc001hyf.2	+	10	1196	c.992A>G	c.(991-993)AAG>AGG	p.K331R	ACTN2_uc001hyg.2_Missense_Mutation_p.K123R|ACTN2_uc009xgi.1_Missense_Mutation_p.K331R|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.K19R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	331	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGAAGCACAAGCCACCCAAG	0.597		NA											9	69					0	0	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:245019776G>A	uc001iaz.1	-	10	2113	c.1895C>T	c.(1894-1896)GCG>GTG	p.A632V	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.A356V|HNRNPU_uc001iba.1_Missense_Mutation_p.A613V|HNRNPU_uc001ibb.1_Missense_Mutation_p.A320V	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	632					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368		NA											4	210					0	0	0	0
GPR158	57512	broad.mit.edu	37	10	25887454	25887454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:25887454C>A	uc001isj.2	+	11	2959	c.2899C>A	c.(2899-2901)CCA>ACA	p.P967T	GPR158_uc001isk.2_Missense_Mutation_p.P342T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	967	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TGCGGAGGAGCCAAGAAAGCC	0.458		NA											7	152					8.13e-05	9.15e-05	1	0
POLL	27343	broad.mit.edu	37	10	103345697	103345697	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:103345697T>C	uc001ktg.1	-	2	1098	c.332A>G	c.(331-333)AAG>AGG	p.K111R	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.K111R|POLL_uc001ktj.1_Missense_Mutation_p.K111R|POLL_uc001ktf.2_Missense_Mutation_p.K111R|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.K111R|POLL_uc001ktl.2_Missense_Mutation_p.K23R|POLL_uc010qqc.1_5'UTR|POLL_uc010qqd.1_Missense_Mutation_p.K23R|DPCD_uc001ktn.2_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	111	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCAGGCTGACTTCACCAGCTG	0.577		NA						DNA_polymerases_(catalytic_subunits)					12	45					0	0	0	0
PSD	5662	broad.mit.edu	37	10	104176509	104176509	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:104176509G>A	uc001kvg.1	-	2	814	c.287C>T	c.(286-288)GCC>GTC	p.A96V	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.A96V|PSD_uc001kvi.1_Missense_Mutation_p.A96V|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	96	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGAGCTCTGGGCCCCGGGTGG	0.657		NA											6	85					0	0	0	0
CCDC147	159686	broad.mit.edu	37	10	106153149	106153149	+	Silent	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:106153149A>G	uc001kyh.2	+	11	1724	c.1590A>G	c.(1588-1590)AAA>AAG	p.K530K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	530	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGCTGAAAGAAGACATCT	0.383		NA											4	52					0	0	0	0
OR52A5	390054	broad.mit.edu	37	11	5153039	5153039	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:5153039G>A	uc010qyx.1	-	1	834	c.834C>T	c.(832-834)CTC>CTT	p.L278L		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTTGACAAGAGGATATGAA	0.398		NA											20	97					0	0	0	0
OR2D2	120776	broad.mit.edu	37	11	6913385	6913385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:6913385G>A	uc010rau.1	-	1	347	c.347C>T	c.(346-348)GCA>GTA	p.A116V		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGACATCACTGCAAGAAGGGC	0.488		NA											14	89					0	0	0	0
ST5	6764	broad.mit.edu	37	11	8752204	8752204	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:8752204C>T	uc001mgt.2	-	3	819	c.633G>A	c.(631-633)CCG>CCA	p.P211P	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.P211P|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.P211P	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	211					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCAGGGGGACGGCACCACGC	0.642		NA											3	25					0	0	0	0
MICAL2	9645	broad.mit.edu	37	11	12229646	12229646	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:12229646C>T	uc001mjz.2	+	5	837	c.549C>T	c.(547-549)TTC>TTT	p.F183F	MICAL2_uc010rch.1_Silent_p.F183F|MICAL2_uc001mjy.2_Silent_p.F183F|MICAL2_uc001mka.2_Silent_p.F183F|MICAL2_uc010rci.1_Silent_p.F183F|MICAL2_uc001mkb.2_Silent_p.F183F|MICAL2_uc001mkc.2_Silent_p.F183F|MICAL2_uc001mkd.2_Silent_p.F12F	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	183						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ATGTGGAGTTCGTGAAGGTTC	0.423		NA											21	174					0	0	0	0
DGKZ	8525	broad.mit.edu	37	11	46397933	46397933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:46397933G>A	uc001ncn.1	+	24	2836	c.2711G>A	c.(2710-2712)TGG>TAG	p.W904*	DGKZ_uc001nch.1_Nonsense_Mutation_p.W732*|DGKZ_uc010rgq.1_Nonsense_Mutation_p.W659*|DGKZ_uc001ncj.1_Nonsense_Mutation_p.W682*|DGKZ_uc010rgr.1_Nonsense_Mutation_p.W681*|DGKZ_uc001nck.1_Nonsense_Mutation_p.W494*|DGKZ_uc001ncl.2_Nonsense_Mutation_p.W716*|DGKZ_uc001ncm.2_Nonsense_Mutation_p.W715*|DGKZ_uc009yky.1_Nonsense_Mutation_p.W716*|DGKZ_uc010rgs.1_Nonsense_Mutation_p.W693*	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	904					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCCCCAAGTGGTGCTTCCTG	0.622		NA											39	197					0	0	0	0
OR8J1	219477	broad.mit.edu	37	11	56128372	56128372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:56128372C>A	uc010rjh.1	+	1	650	c.650C>A	c.(649-651)TCT>TAT	p.S217Y		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTTCTAGTATCTTATTTCAAT	0.328		NA											15	118					4.75e-09	5.57e-09	1	0
RPS6KA4	8986	broad.mit.edu	37	11	64129153	64129153	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:64129153C>A	uc001oae.2	+	7	774	c.691C>A	c.(691-693)CTG>ATG	p.L231M	RPS6KA4_uc001oad.2_Missense_Mutation_p.L231M|RPS6KA4_uc010rnl.1_Missense_Mutation_p.L168M|RPS6KA4_uc001oaf.2_Missense_Mutation_p.L231M|RPS6KA4_uc009ypp.2_Missense_Mutation_p.L231M	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	231	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						GCTCTTCGAGCTGCTGACGGG	0.687		NA											5	90					0.00116845	0.00127068	1	0
SPTBN2	6712	broad.mit.edu	37	11	66473195	66473195	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:66473195G>A	uc001ojd.2	-	13	1839	c.1767C>T	c.(1765-1767)GCC>GCT	p.A589A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	589	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGCGCTGACGGCCCGCACCC	0.662		NA											5	31					0	0	0	0
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:72040797G>A	uc001osj.2	-	7	967	c.917C>T	c.(916-918)GCC>GTC	p.A306V	CLPB_uc010rqx.1_Missense_Mutation_p.A261V|CLPB_uc010rqy.1_Missense_Mutation_p.A247V|CLPB_uc001osk.2_Missense_Mutation_p.A276V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A105V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	306	ANK 4.				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						CCCTTCTCGGGCATAATCCAA	0.512		NA											3	87					0	0	0	0
POLD3	10714	broad.mit.edu	37	11	74329716	74329716	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:74329716G>A	uc001ovf.1	+	6	602	c.527G>A	c.(526-528)GGT>GAT	p.G176D	POLD3_uc009yua.1_Missense_Mutation_p.G70D	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	176					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					ACCACCAATGGTCATGGCCCA	0.483		NA											19	136					0	0	0	0
TMEM123	114908	broad.mit.edu	37	11	102272786	102272786	+	Silent	SNP	G	G	C	rs142725847	by1000genomes	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:102272786G>C	uc001pha.2	-	3	730	c.309C>G	c.(307-309)GTC>GTG	p.V103V	TMEM123_uc009yxc.2_Silent_p.V84V	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	103	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TATTTGTTGAGACCATCCCTG	0.438		NA											28	282					0	0	0	0
OPCML	4978	broad.mit.edu	37	11	132290129	132290129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:132290129C>G	uc001qgs.2	-	7	1046	c.996G>C	c.(994-996)TGG>TGC	p.W332C	OPCML_uc001qgu.2_Missense_Mutation_p.W325C|OPCML_uc010sck.1_Missense_Mutation_p.W341C|OPCML_uc001qgt.2_Missense_Mutation_p.W331C|OPCML_uc010scl.1_Missense_Mutation_p.W291C	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	332					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCCTGATAGCCAGAGACAAG	0.498		NA											4	63					0	0	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472662	6472662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:6472662G>A	uc001qnx.2	-	3	920	c.631C>T	c.(631-633)CGG>TGG	p.R211W	SCNN1A_uc001qnv.2_5'UTR|SCNN1A_uc001qnw.2_Missense_Mutation_p.R270W|SCNN1A_uc010sfb.1_Missense_Mutation_p.R234W	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	211	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	TTGTTGTCCCGCAAGCTGGAG	0.552		NA											4	25					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7640635	7640635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:7640635C>A	uc001qsz.3	-	7	1597	c.1469G>T	c.(1468-1470)CGT>CTT	p.R490L	CD163_uc001qta.3_Missense_Mutation_p.R490L|CD163_uc009zfw.2_Missense_Mutation_p.R490L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	490	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CACTTCAACACGTCCAGAACA	0.478		NA											4	33					0.00024832	0.000274334	1	0
SLC2A13	114134	broad.mit.edu	37	12	40441956	40441956	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40441956T>C	uc010skm.1	-	2	664	c.613A>G	c.(613-615)AGA>GGA	p.R205G	SLC2A13_uc001rmf.2_Missense_Mutation_p.R205G	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	205	Cytoplasmic (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AATCGGCCTCTTAAATTGGGT	0.423		NA								HNSCC(50;0.14)			24	209					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40645303	40645303	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40645303T>G	uc001rmg.3	+	10	1259	c.1138T>G	c.(1138-1140)TAC>GAC	p.Y380D	LRRK2_uc001rmh.1_Missense_Mutation_p.Y2D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	380					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTCCTTATGTACCAAAACAG	0.318		NA									OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	27					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57577638	57577638	+	Missense_Mutation	SNP	G	G	T	rs144804370		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:57577638G>T	uc001snd.2	+	36	6341	c.5875G>T	c.(5875-5877)GTG>TTG	p.V1959L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1959	LDL-receptor class B 17.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGTGAAGACGTGGTGACCAA	0.612		NA											20	90					1.34e-09	1.57e-09	1	0
CCDC63	160762	broad.mit.edu	37	12	111311766	111311766	+	Splice_Site	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:111311766G>A	uc001trv.1	+	5	684	c.489_splice	c.e5+1	p.L163_splice	CCDC63_uc009zvt.1_Splice_Site_p.L78_splice|CCDC63_uc010sye.1_Splice_Site_p.L123_splice|CCDC63_uc001trw.1_Splice_Site_p.L78_splice	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63											skin(6)|ovary(1)|pancreas(1)	8						TTTGAATCTCGTATGTAAAGT	0.443		NA											31	145					0	0	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112318261	112318261	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:112318261C>T	uc001tta.2	+	8	849	c.590C>T	c.(589-591)GCG>GTG	p.A197V	MAPKAPK5_uc001tsz.2_Missense_Mutation_p.A197V|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.A130V	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	197	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						GTACTGGAGGCGCAAAGAAGG	0.463		NA											5	78					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128668	126128668	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:126128668A>G	uc001uhe.1	+	6	1477	c.1469A>G	c.(1468-1470)AAG>AGG	p.K490R	TMEM132B_uc001uhf.1_Missense_Mutation_p.K2R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	490	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAATGAAGAGCAAAGTG	0.488		NA											11	98					0	0	0	0
EFNB2	1948	broad.mit.edu	37	13	107147297	107147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:107147297C>T	uc001vqi.2	-	4	570	c.545G>A	c.(544-546)CGT>CAT	p.R182H		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	182	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTTCTGGACGTCTTGTTGG	0.393		NA											12	276					0	0	0	0
PROZ	8858	broad.mit.edu	37	13	113824825	113824825	+	Missense_Mutation	SNP	G	G	T	rs150819115		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:113824825G>T	uc001vta.1	+	7	679	c.672G>T	c.(670-672)AGG>AGT	p.R224S	PROZ_uc010agr.1_Missense_Mutation_p.R246S	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	224	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTTACACAGGAATATTACTG	0.294		NA											11	102					3.86e-05	4.38e-05	1	0
SALL2	6297	broad.mit.edu	37	14	21992498	21992498	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:21992498G>T	uc001wbe.2	-	2	1646	c.1364C>A	c.(1363-1365)TCC>TAC	p.S455Y	SALL2_uc010tly.1_Missense_Mutation_p.S453Y|SALL2_uc010tlz.1_Missense_Mutation_p.S318Y|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.S320Y|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	455							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGTGGCACGGACATACCATA	0.582		NA											11	33					0.000673444	0.000734666	1	0
ADCY4	196883	broad.mit.edu	37	14	24793592	24793592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:24793592G>A	uc001wov.2	-	15	1835	c.1829C>T	c.(1828-1830)CCA>CTA	p.P610L	ADCY4_uc001wow.2_Missense_Mutation_p.P610L|ADCY4_uc010toh.1_Missense_Mutation_p.P296L|ADCY4_uc001wox.2_Missense_Mutation_p.P610L|ADCY4_uc001woy.2_Missense_Mutation_p.P610L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	610					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGAGCTGGGGGCCTGAA	0.567		NA											3	61					0	0	0	0
HECTD1	25831	broad.mit.edu	37	14	31642844	31642844	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:31642844G>A	uc001wrc.1	-	5	1261	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	258					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGGTGCTGCGACCTGGTTTG	0.493		NA											6	81					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527612	70527612	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:70527612C>T	uc001xly.2	-	3	2583	c.1829G>A	c.(1828-1830)AGG>AAG	p.R610K	SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_5'UTR|SLC8A3_uc001xlw.2_Missense_Mutation_p.R610K|SLC8A3_uc001xlx.2_Intron|SLC8A3_uc001xlz.2_Missense_Mutation_p.R610K|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	610	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCTCTTGCCTTTCGTATTC	0.378		NA											27	98					0	0	0	0
NDNL2	56160	broad.mit.edu	37	15	29561302	29561302	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:29561302C>A	uc001zco.2	-	1	716	c.608G>T	c.(607-609)CGG>CTG	p.R203L	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	203	MAGE.				regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCCTAAGCGCCGCAGAAAGTC	0.512		NA											15	77					3.27e-08	3.81e-08	1	0
DMXL2	23312	broad.mit.edu	37	15	51757808	51757808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:51757808G>A	uc002abf.2	-	31	7783	c.7558C>T	c.(7558-7560)CAC>TAC	p.H2520Y	DMXL2_uc002abd.2_Missense_Mutation_p.H591Y|DMXL2_uc010ufy.1_Missense_Mutation_p.H2521Y|DMXL2_uc010bfa.2_Missense_Mutation_p.H1884Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2520						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TTGACATTGTGAAGTGCTAGT	0.333		NA											23	173					0	0	0	0
NTRK3	4916	broad.mit.edu	37	15	88483890	88483890	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:88483890G>T	uc002bme.1	-	14	1842	c.1680C>A	c.(1678-1680)CTC>CTA	p.L560L	NTRK3_uc002bmh.2_Silent_p.L552L|NTRK3_uc002bmf.1_Silent_p.L560L|NTRK3_uc010upl.1_Silent_p.L462L|NTRK3_uc010bnh.1_Silent_p.L552L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	560	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTCGGGCTGAGGTTGTAGC	0.582		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			39	120					1.08e-08	1.26e-08	1	0
MYH11	4629	broad.mit.edu	37	16	15812199	15812199	+	Missense_Mutation	SNP	G	G	T	rs139620532		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:15812199G>T	uc002ddy.2	-	37	5375	c.5268C>A	c.(5266-5268)AGC>AGA	p.S1756R	MYH11_uc002ddv.2_Missense_Mutation_p.S1763R|MYH11_uc002ddw.2_Missense_Mutation_p.S1756R|MYH11_uc002ddx.2_Missense_Mutation_p.S1763R|MYH11_uc010bvg.2_Missense_Mutation_p.S1588R|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S462R	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1756	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GGACCCGGTCGCTCATGGCCT	0.567		NA	T	CBFB	AML								16	88					1.37e-15	1.66e-15	1	0
OTOA	146183	broad.mit.edu	37	16	21693074	21693074	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:21693074G>T	uc002djh.2	+	5	196	c.195G>T	c.(193-195)ACG>ACT	p.T65T	uc002diq.3_Intron|OTOA_uc010vbj.1_5'Flank	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	65					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		ACGTGTGGACGGATGACCTGT	0.512		NA											10	51					0.00829132	0.00885085	1	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7576855G>A	uc002gim.2	-	9	1185	c.991C>T	c.(991-993)CAG>TAG	p.Q331*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	331	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (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.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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)		CTTAGTACCTGAAGGGTGAAA	0.448		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)			6	108					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7578395G>A	uc002gim.2	-	5	729	c.535C>T	c.(535-537)CAT>TAT	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			4	73					0	0	0	0
FLOT2	2319	broad.mit.edu	37	17	27209178	27209178	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:27209178G>A	uc002hdc.2	-	7	780	c.657C>T	c.(655-657)TTC>TTT	p.F219F		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	219					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTTGCAGCTCGAAGGCTCGCT	0.542		NA											15	109					0	0	0	0
IKZF3	22806	broad.mit.edu	37	17	37933964	37933964	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:37933964G>A	uc002hsu.2	-	7	828	c.766C>T	c.(766-768)CTG>TTG	p.L256L	IKZF3_uc002htd.2_Silent_p.L222L|IKZF3_uc010cwd.2_Silent_p.L113L|IKZF3_uc002hsv.2_Silent_p.L183L|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Silent_p.L74L|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.L217L|IKZF3_uc002hsx.2_Silent_p.L200L|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Silent_p.L161L|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.L169L|IKZF3_uc002htc.2_Silent_p.L9L|IKZF3_uc010wel.1_Silent_p.L9L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	256					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTGTCCAGTACGAGAGCT	0.398		NA											17	108					0	0	0	0
PRCD	768206	broad.mit.edu	37	17	74538650	74538650	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:74538650G>A	uc002jrx.2	+	3	262	c.159G>A	c.(157-159)CTG>CTA	p.L53L	CYGB_uc002jrv.1_Intron|PRCD_uc002jrw.1_5'UTR|PRCD_uc002jry.1_5'UTR|PRCD_uc002jrz.1_5'Flank	NM_001077620	NP_001071088	Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus|visual perception	cytoplasm|integral to membrane					0						AAGAACCTCTGAAGTAAGCCC	0.607		NA											7	64					0	0	0	0
MYOM1	8736	broad.mit.edu	37	18	3135616	3135616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:3135616C>A	uc002klp.2	-	15	2472	c.2138G>T	c.(2137-2139)CGC>CTC	p.R713L	MYOM1_uc002klq.2_Missense_Mutation_p.R713L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ATTAGAACAGCGGACACGGAA	0.512		NA											8	46					1.07e-07	1.24e-07	1	0
RBBP8	5932	broad.mit.edu	37	18	20555121	20555121	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:20555121G>C	uc002ktw.2	+	6	698	c.367G>C	c.(367-369)GAA>CAA	p.E123Q	RBBP8_uc002kty.2_Missense_Mutation_p.E123Q|RBBP8_uc002ktz.2_Missense_Mutation_p.E123Q|RBBP8_uc002kua.2_Missense_Mutation_p.E123Q|RBBP8_uc002ktx.1_Missense_Mutation_p.E123Q	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	123	Potential.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTAAGTGAATGAAAGGAATAC	0.264		NA						Direct_reversal_of_damage|Homologous_recombination					5	83					0	0	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428796	4428796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4428796G>A	uc002mal.2	+	8	1613	c.1513G>A	c.(1513-1515)GAG>AAG	p.E505K		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	505					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCGGCGAGTTCTCCTT	0.582		NA						Chromatin_Structure					10	68					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22940600	22940600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:22940600G>C	uc010xrh.1	-	5	1838	c.1838C>G	c.(1837-1839)CCC>CGC	p.P613R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGGTTTCTTTCC	0.373		NA											8	71					0	0	0	0
ZNF540	163255	broad.mit.edu	37	19	38103919	38103919	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:38103919A>G	uc002ogq.2	+	5	2070	c.1738A>G	c.(1738-1740)AAA>GAA	p.K580E	ZNF540_uc002ogu.2_Missense_Mutation_p.K580E|ZNF540_uc010efq.2_Missense_Mutation_p.K548E	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	580	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATACAAATGTAAAGA	0.398		NA											9	127					0	0	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:42301736G>A	uc002orn.1	+	2	356	c.280G>A	c.(280-282)GCA>ACA	p.A94T	CEACAM3_uc010eia.1_Missense_Mutation_p.A94T|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	94	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						CCCAGGGGCCGCATACAGCGG	0.463		NA											5	256					0	0	0	0
VN1R2	317701	broad.mit.edu	37	19	53762257	53762257	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:53762257G>A	uc002qbi.2	+	1	713	c.629G>A	c.(628-630)GGT>GAT	p.G210D		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	210	Helical; Name=4; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		ACATACATTGGTCTCTCCAAT	0.458		NA											6	57					0	0	0	0
ZNF582	147948	broad.mit.edu	37	19	56895798	56895798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56895798G>C	uc002qmz.1	-	5	1147	c.988C>G	c.(988-990)CAG>GAG	p.Q330E	ZNF582_uc002qmy.2_Missense_Mutation_p.Q361E	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAACAGTCTGATGTTGAATC	0.383		NA											3	160					0	0	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:58385762C>G	uc002qqo.2	-	3	1268	c.996G>C	c.(994-996)TCG>TCC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332	C2H2-type 5.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						ATTTGCTAAACGATTTCCCAC	0.358		NA											2	12					0	0	0	0
CENPO	79172	broad.mit.edu	37	2	25038610	25038610	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:25038610G>A	uc002rfo.1	+	5	768	c.579G>A	c.(577-579)CAG>CAA	p.Q193Q	CENPO_uc002rfn.2_Silent_p.Q193Q|CENPO_uc002rfp.1_Silent_p.Q187Q|CENPO_uc002rfq.1_Silent_p.Q193Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	193					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAAGTACCAGGCAGACCGGC	0.468		NA											25	121					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32730182	32730182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:32730182G>T	uc010ezu.2	+	50	9744	c.9610G>T	c.(9610-9612)GAG>TAG	p.E3204*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3204					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTCCAGAGGAGGCTTG	0.502		NA											3	28					0.00024832	0.000274334	1	0
ALMS1	7840	broad.mit.edu	37	2	73676156	73676156	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:73676156T>A	uc002sje.1	+	10	2616	c.2505T>A	c.(2503-2505)GCT>GCA	p.A835A	ALMS1_uc002sjf.1_Silent_p.A791A|ALMS1_uc002sjg.2_Silent_p.A221A|ALMS1_uc002sjh.1_Silent_p.A221A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	833	7.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CCGAAGAGGCTCTGAAAGTTT	0.517		NA											19	93					0	0	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598671	85598671	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:85598671A>G	uc002spf.3	+	11	1258	c.593A>G	c.(592-594)GAC>GGC	p.D198G	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Missense_Mutation_p.D198G|ELMOD3_uc002sph.3_Missense_Mutation_p.D198G|ELMOD3_uc010ysn.1_Missense_Mutation_p.D198G|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	198	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						CACTGGGAGGACCTGGGCTTT	0.532		NA											15	98					0	0	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638323	112638323	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:112638323T>C	uc002thi.2	-	2	327	c.80A>G	c.(79-81)CAC>CGC	p.H27R	ANAPC1_uc002thj.2_Missense_Mutation_p.H17R	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GTGCTTGCAGTGGTCTCGACC	0.468		NA											9	57					0	0	0	0
PTPN4	5775	broad.mit.edu	37	2	120712819	120712819	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:120712819C>G	uc002tmf.1	+	20	2671	c.1900C>G	c.(1900-1902)CAG>GAG	p.Q634E	PTPN4_uc010flj.1_Missense_Mutation_p.Q347E|PTPN4_uc010yyr.1_Missense_Mutation_p.Q267E	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	634						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	TAGTGTGCATCAGGATGACCA	0.398		NA											12	94					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141027890	141027890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:141027890T>A	uc002tvj.1	-	86	14140	c.13168A>T	c.(13168-13170)AGC>TGC	p.S4390C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4390	Extracellular (Potential).|EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGACAGCTAGAGGCAATC	0.403		NA								TSP Lung(27;0.18)			7	111					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179596836	179596836	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:179596836A>C	uc010zfg.1	-	54	13352	c.13128T>G	c.(13126-13128)AAT>AAG	p.N4376K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1037K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5303							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)			TGCCAGCCTCATTTTGGGCCT	0.468		NA											19	225					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196825341	196825341	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:196825341C>T	uc002utj.3	-	18	2635	c.2534G>A	c.(2533-2535)TGT>TAT	p.C845Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	845	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACCAGGATTACAGATCACTTG	0.443		NA											21	172					0	0	0	0
PPIL3	53938	broad.mit.edu	37	2	201750420	201750420	+	Splice_Site	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:201750420C>T	uc002uwh.2	-	3	319	c.78_splice	c.e3+1	p.E26_splice	PPIL3_uc002uwi.2_Splice_Site_p.E26_splice|PPIL3_uc002uwj.2_Splice_Site_p.E26_splice|PPIL3_uc002uwk.2_Splice_Site_p.E26_splice	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase-like 3 isoform PPIL3b						protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding				0						ATAGTACTTACCTCACATGTT	0.318		NA											4	100					0	0	0	0
NRSN2	80023	broad.mit.edu	37	20	333907	333907	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:333907C>T	uc002wdi.3	+	4	781	c.243C>T	c.(241-243)ACC>ACT	p.T81T	NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	81	Helical; (Potential).					integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)				CGGCTCTGACCACTGGCTATG	0.642		NA											20	125					0	0	0	0
CST1	1469	broad.mit.edu	37	20	23731351	23731351	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:23731351G>A	uc002wtp.2	-	1	224	c.153C>T	c.(151-153)GCC>GCT	p.A51A		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	51						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTCGCTGATGGCGAAGTGAA	0.577		NA											22	95					0	0	0	0
C20orf114	92747	broad.mit.edu	37	20	31887714	31887714	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:31887714C>A	uc002wyw.1	+	8	832	c.671C>A	c.(670-672)TCC>TAC	p.S224Y	C20orf114_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	224						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						GTGCCCATTTCCCTCAGCATT	0.557		NA									OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	114					6.45e-10	7.63e-10	1	0
MYH7B	57644	broad.mit.edu	37	20	33588219	33588219	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:33588219G>T	uc002xbi.1	+	37	5123	c.5031G>T	c.(5029-5031)CAG>CAT	p.Q1677H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1635	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGCTGCAGCTGGGCCATG	0.672		NA											5	58					0.000602214	0.000659027	1	0
NPEPL1	79716	broad.mit.edu	37	20	57268962	57268962	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:57268962C>A	uc010zzs.1	+	2	415	c.320C>A	c.(319-321)GCG>GAG	p.A107E	NPEPL1_uc010zzr.1_Missense_Mutation_p.A59E|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A79E|NPEPL1_uc002xzp.2_5'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	107					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCGCCCGGAGCGCATCGCTGC	0.706		NA											4	12					0.00909568	0.00965029	1	0
LAMA5	3911	broad.mit.edu	37	20	60906173	60906173	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:60906173G>A	uc002ycq.2	-	29	3632	c.3565C>T	c.(3565-3567)CTG>TTG	p.L1189L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1189	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGGCACCAGAGTGACCCCG	0.532		NA											3	16					0	0	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468451	35468451	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr21:35468451G>A	uc002yto.2	+	2	1466	c.954G>A	c.(952-954)ATG>ATA	p.M318I	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	318	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						TCCCAGGAATGATTTCCAGGA	0.463		NA											14	192					0	0	0	0
HIRA	7290	broad.mit.edu	37	22	19340889	19340889	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:19340889G>A	uc002zpf.1	-	23	3058	c.2838C>T	c.(2836-2838)CTC>CTT	p.L946L	HIRA_uc011agx.1_Silent_p.L812L|HIRA_uc010grn.1_Silent_p.L739L|HIRA_uc010gro.1_Silent_p.L902L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	946	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CTTCGTTTACGAGGTACCGTG	0.597		NA											6	21					0	0	0	0
MCM5	4174	broad.mit.edu	37	22	35812693	35812693	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:35812693C>G	uc003anu.3	+	12	1570	c.1476C>G	c.(1474-1476)TTC>TTG	p.F492L	MCM5_uc010gwr.2_Missense_Mutation_p.F301L|MCM5_uc003anv.3_Missense_Mutation_p.F449L|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.F276L	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	492	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						ACTCAGTGTTCGGCCGCTGGG	0.577		NA											3	96					0	0	0	0
APOL6	80830	broad.mit.edu	37	22	36054943	36054943	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:36054943C>T	uc003aoe.2	+	3	626	c.332C>T	c.(331-333)ACC>ATC	p.T111I	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	111					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						CTGCTCTCCACCGCTGGTCAA	0.572		NA											6	69					0	0	0	0
PTPN23	25930	broad.mit.edu	37	3	47453167	47453167	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:47453167G>C	uc003crf.1	+	20	3975	c.3879G>C	c.(3877-3879)GAG>GAC	p.E1293D	PTPN23_uc011baw.1_Missense_Mutation_p.E1258D|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.E1163D|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1293	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAGGCTGAGATGGAGAAGG	0.587		NA											7	50					0	0	0	0
MST1	4485	broad.mit.edu	37	3	49724469	49724469	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:49724469G>A	uc003cxg.2	-	6	711	c.639C>T	c.(637-639)TAC>TAT	p.Y213Y	MST1_uc011bcs.1_Silent_p.Y213Y|MST1_uc010hkx.2_Silent_p.Y134Y|MST1_uc011bct.1_Silent_p.Y213Y|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	199	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGCGCCGCGGTATTCCTCGC	0.657		NA											7	100					0	0	0	0
GNAI2	2771	broad.mit.edu	37	3	50290578	50290578	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:50290578C>T	uc003cyq.1	+	4	547	c.426C>T	c.(424-426)GGC>GGT	p.G142G	GNAI2_uc003cyo.1_Silent_p.G126G|GNAI2_uc003cyp.1_Silent_p.G126G|GNAI2_uc010hlg.1_Silent_p.G61G|GNAI2_uc011bdn.1_Silent_p.G105G|GNAI2_uc003cyr.1_Silent_p.G61G	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	142					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CCTGCTTTGGCCGCTCAAGGG	0.652		NA											4	304					0	0	0	0
NISCH	11188	broad.mit.edu	37	3	52526308	52526308	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:52526308T>C	uc011beg.1	+	22	4397	c.4325T>C	c.(4324-4326)CTC>CCC	p.L1442P	NISCH_uc003ded.3_Missense_Mutation_p.L1442P|NISCH_uc003dee.3_Missense_Mutation_p.L931P|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.L191P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1442					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGTCATGACCTCATGGGCAGT	0.652		NA											4	297					0	0	0	0
C3orf30	152405	broad.mit.edu	37	3	118866242	118866242	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:118866242C>T	uc003ecb.1	+	1	1246	c.1206C>T	c.(1204-1206)CTC>CTT	p.L402L	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.L402L	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	402										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		AAGTAGACCTCAATTCCAAGC	0.448		NA											16	82					0	0	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906642	164906642	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:164906642G>T	uc003fej.3	-	2	2421	c.1977C>A	c.(1975-1977)AGC>AGA	p.S659R	SLITRK3_uc003fek.2_Missense_Mutation_p.S659R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	659	Helical; (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GAACCAGCAGGCTGAGAATTA	0.532		NA								HNSCC(40;0.11)			6	46					0.00198382	0.00215068	1	0
MFSD7	84179	broad.mit.edu	37	4	680361	680361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:680361G>A	uc003gay.2	-	2	311	c.254C>T	c.(253-255)GCG>GTG	p.A85V	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A85V|MFSD7_uc003gaz.2_Missense_Mutation_p.A63V|MFSD7_uc003gba.2_Missense_Mutation_p.A85V|MFSD7_uc003gbb.1_Missense_Mutation_p.A21V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	85	Helical; (Potential).				transmembrane transport	integral to membrane					0						CCAGATGGCCGCCACGCCAAA	0.642		NA											3	83					0	0	0	0
WDR19	57728	broad.mit.edu	37	4	39217727	39217727	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:39217727C>G	uc003gtv.2	+	12	1300	c.1146C>G	c.(1144-1146)ATC>ATG	p.I382M	WDR19_uc003gtu.1_Missense_Mutation_p.I382M|WDR19_uc011byi.1_Missense_Mutation_p.I222M|WDR19_uc003gtw.1_Translation_Start_Site	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	382					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGCTACCAATCACAGTTTCTG	0.318		NA											2	11					0	0	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82355102	82355102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:82355102C>T	uc003hmi.1	-	12	1360	c.1216G>A	c.(1216-1218)GCC>ACC	p.A406T	RASGEF1B_uc003hmj.1_Missense_Mutation_p.A405T|RASGEF1B_uc010ijq.1_Missense_Mutation_p.A364T	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	406	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						ACTTGTTTGGCCAGTTCCCAA	0.368		NA											4	248					0	0	0	0
CENPE	1062	broad.mit.edu	37	4	104062022	104062022	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:104062022G>C	uc003hxb.1	-	36	5793	c.5703C>G	c.(5701-5703)CTC>CTG	p.L1901L	CENPE_uc003hxc.1_Silent_p.L1876L|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1901	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCCAGTTTGAGTGTCTCCT	0.313		NA											7	127					0	0	0	0
C4orf21	55345	broad.mit.edu	37	4	113540216	113540216	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:113540216C>A	uc003iau.2	-	6	1193	c.982G>T	c.(982-984)GCC>TCC	p.A328S	C4orf21_uc003iaw.2_Missense_Mutation_p.A328S	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATACATGGCCCACCGGCTT	0.398		NA											28	136					1.77e-15	2.14e-15	1	0
ERCC8	1161	broad.mit.edu	37	5	60199489	60199489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:60199489G>A	uc003jsm.3	-	6	606	c.536C>T	c.(535-537)TCT>TTT	p.S179F	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.S121F|ERCC8_uc011cqp.1_Missense_Mutation_p.S26F|ERCC8_uc003jsn.3_Missense_Mutation_p.S179F	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	179					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TAGAATGTGAGAACAGGATCC	0.328		NA						Direct_reversal_of_damage|NER					8	96					0	0	0	0
GABRB2	2561	broad.mit.edu	37	5	160721372	160721372	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:160721372C>G	uc003lys.1	-	11	1473	c.1255G>C	c.(1255-1257)GAG>CAG	p.E419Q	GABRB2_uc011deh.1_Missense_Mutation_p.E220Q|GABRB2_uc003lyr.1_Missense_Mutation_p.E381Q|GABRB2_uc003lyt.1_Missense_Mutation_p.E381Q|GABRB2_uc010jiu.1_Missense_Mutation_p.E318Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	419	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCACAGCCTCAGATGTGGCC	0.478		NA											9	123					0	0	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33419553	33419553	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:33419553C>T	uc011dri.1	+	19	4097	c.3902C>T	c.(3901-3903)CCC>CTC	p.P1301L	ZBTB9_uc003oeq.2_5'Flank|SYNGAP1_uc010juy.2_Missense_Mutation_p.P1270L|SYNGAP1_uc010juz.2_3'UTR	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1301					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CAGCTTCCCCCCTTGGGTCCA	0.652		NA											4	24					0	0	0	0
TRERF1	55809	broad.mit.edu	37	6	42235962	42235962	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:42235962G>T	uc003osd.2	-	5	1930	c.1367C>A	c.(1366-1368)CCC>CAC	p.P456H	TRERF1_uc011duq.1_Missense_Mutation_p.P456H|TRERF1_uc003osb.2_Missense_Mutation_p.P295H|TRERF1_uc003osc.2_Missense_Mutation_p.P295H|TRERF1_uc003ose.2_Missense_Mutation_p.P456H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCCCACTGGGGGATAGGAG	0.607		NA											22	100					6.45e-10	7.63e-10	1	0
EPHA7	2045	broad.mit.edu	37	6	93967234	93967234	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:93967234T>A	uc003poe.2	-	12	2359	c.2118A>T	c.(2116-2118)CCA>CCT	p.P706P	EPHA7_uc003pof.2_Silent_p.P701P|EPHA7_uc011eac.1_Silent_p.P702P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	706	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTATCATGACTGGTTTCCCTA	0.373		NA											4	63					0	0	0	0
POU3F2	5454	broad.mit.edu	37	6	99283871	99283871	+	Silent	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:99283871C>G	uc003ppe.2	+	1	1292	c.1122C>G	c.(1120-1122)CTC>CTG	p.L374L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	374	Homeobox.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCCATTTCCTCAAATGCCCCA	0.587		NA											7	106					0	0	0	0
GRIK2	2898	broad.mit.edu	37	6	102074478	102074478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:102074478G>A	uc003pqp.3	+	3	756	c.507G>A	c.(505-507)TGG>TGA	p.W169*	GRIK2_uc003pqn.2_Nonsense_Mutation_p.W169*|GRIK2_uc003pqo.3_Nonsense_Mutation_p.W169*|GRIK2_uc010kcw.2_Nonsense_Mutation_p.W169*	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	169	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTTCAAGTGGAAAACCGTCA	0.413		NA											6	111					0	0	0	0
CLVS2	134829	broad.mit.edu	37	6	123377032	123377032	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:123377032C>T	uc003pzi.1	+	5	1626	c.757C>T	c.(757-759)CTG>TTG	p.L253L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	253	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGGAGGAATGCTGCCTCCTTA	0.448		NA											10	148					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152477074	152477074	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:152477074A>C	uc010kiw.2	-	132	24551	c.23949T>G	c.(23947-23949)ATT>ATG	p.I7983M	SYNE1_uc010kiv.2_Missense_Mutation_p.I2507M|SYNE1_uc003qos.3_Missense_Mutation_p.I2507M|SYNE1_uc003qot.3_Missense_Mutation_p.I7912M|SYNE1_uc003qou.3_Missense_Mutation_p.I7983M|SYNE1_uc003qop.3_Missense_Mutation_p.I145M|SYNE1_uc011eez.1_Missense_Mutation_p.I185M|SYNE1_uc003qoq.3_Missense_Mutation_p.I185M|SYNE1_uc003qor.3_Missense_Mutation_p.I883M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7983	Spectrin 28.|Cytoplasmic (Potential).|HAT 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATAGCACAAATGTTTCTCC	0.498		NA								HNSCC(10;0.0054)			10	104					0	0	0	0
ICA1	3382	broad.mit.edu	37	7	8258017	8258017	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:8258017T>C	uc003srm.2	-	6	564	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	ICA1_uc010ktr.2_Missense_Mutation_p.Y166C|ICA1_uc003srl.2_Missense_Mutation_p.Y154C|ICA1_uc003srn.3_Missense_Mutation_p.Y92C|ICA1_uc003srp.3_Missense_Mutation_p.Y165C|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Y166C|ICA1_uc003srr.2_Missense_Mutation_p.Y165C|ICA1_uc003sro.3_Missense_Mutation_p.Y166C|ICA1_uc011jxg.1_Missense_Mutation_p.Y166C|ICA1_uc003srs.1_Missense_Mutation_p.Y166C	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	166	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTCCTCTATATTCCGTCCT	0.488		NA											39	195					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11441597	11441597	+	Splice_Site	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:11441597T>A	uc003ssf.3	-	22	4490	c.4238_splice	c.e22-1	p.G1413_splice		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAGTCACCTGTAAAACACA	0.443		NA								HNSCC(18;0.044)			21	114					0	0	0	0
TMEM196	256130	broad.mit.edu	37	7	19765251	19765251	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:19765251G>A	uc011jyg.1	-	3	430	c.345C>T	c.(343-345)ATC>ATT	p.I115I	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	121	Helical; (Potential).					integral to membrane					0						TGCAGCCCCCGATCCCAATGC	0.532		NA											10	77					0	0	0	0
PHTF2	57157	broad.mit.edu	37	7	77531083	77531083	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:77531083T>C	uc003ugs.3	+	6	417	c.291T>C	c.(289-291)TCT>TCC	p.S97S	PHTF2_uc003ugo.3_Silent_p.S59S|PHTF2_uc003ugp.2_Silent_p.S59S|PHTF2_uc003ugq.3_Silent_p.S59S|PHTF2_uc010ldv.2_Silent_p.S59S|PHTF2_uc003ugr.3_Silent_p.S63S|PHTF2_uc003ugt.3_Silent_p.S63S|PHTF2_uc003ugu.3_Silent_p.S59S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTCAGGGTCTGCATTTGCAA	0.323		NA											2	7					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746396	81746396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:81746396C>G	uc003uhr.1	-	6	746	c.490G>C	c.(490-492)GCA>CCA	p.A164P		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	164	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGACTGCTGCGTGCTGATAA	0.408		NA											3	173					0	0	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:99129118G>A	uc003uqv.2	+	7	1890	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.R516H|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.R325H	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488		NA											7	57					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471413	146471413	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:146471413A>T	uc003weu.1	+	2	664	c.148A>T	c.(148-150)AGC>TGC	p.S50C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	50	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCTTTCAGCAGCTCCTCCTC	0.428		NA								HNSCC(39;0.1)			4	30					0	0	0	0
ANGPT2	285	broad.mit.edu	37	8	6378700	6378700	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:6378700G>T	uc003wqj.3	-	4	1127	c.798C>A	c.(796-798)AAC>AAA	p.N266K	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.N266K|ANGPT2_uc010lri.2_Missense_Mutation_p.N214K|ANGPT2_uc003wql.3_Missense_Mutation_p.N266K	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	266					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAAACTTACAGTTTGATGTGG	0.353		NA											17	90					5.39e-06	6.19e-06	1	0
HR	55806	broad.mit.edu	37	8	21986582	21986582	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:21986582A>C	uc003xas.2	-	2	767	c.102T>G	c.(100-102)GAT>GAG	p.D34E	HR_uc003xat.2_Missense_Mutation_p.D34E|HR_uc010lts.2_Missense_Mutation_p.D34E	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	34							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCAGTCCATCTCGAGGCG	0.672		NA											12	77					0	0	0	0
C8orf34	116328	broad.mit.edu	37	8	69633633	69633633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:69633633G>T	uc010lyz.2	+	10	1156	c.1107G>T	c.(1105-1107)GAG>GAT	p.E369D	C8orf34_uc003xyb.2_Missense_Mutation_p.E344D	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	369					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TAATGGAGGAGGGTGACGAAT	0.279		NA											8	78					1.13e-05	1.29e-05	1	0
RIMS2	9699	broad.mit.edu	37	8	104898224	104898224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:104898224T>C	uc003yls.2	+	2	972	c.731T>C	c.(730-732)GTA>GCA	p.V244A	RIMS2_uc003ylp.2_Missense_Mutation_p.V466A|RIMS2_uc003ylw.2_Missense_Mutation_p.V274A|RIMS2_uc003ylq.2_Missense_Mutation_p.V274A|RIMS2_uc003ylr.2_Missense_Mutation_p.V274A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCTGCTGTAAGAAAAACA	0.473		NA								HNSCC(12;0.0054)			16	71					0	0	0	0
C8orf76	84933	broad.mit.edu	37	8	124253497	124253497	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:124253497G>C	uc003yqc.1	-	1	121	c.90C>G	c.(88-90)TCC>TCG	p.S30S	C8orf76_uc003yqd.2_Intron	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	30							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCGCAGTAGGACGCGGGCG	0.527		NA											2	11					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:21971017G>A	uc003zpk.2	-	2	553	c.341C>T	c.(340-342)CCC>CTC	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A169A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	114	ANK 4.		P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		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.P114L(21)|p.?(13)|p.P114H(3)|p.H83fs*2(2)|p.P114S(2)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(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)		CAGGTCCACGGGCAGACGGCC	0.731	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	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)			8	40					0	0	0	0
LINGO2	158038	broad.mit.edu	37	9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:27950348G>A	uc003zqu.1	-	2	516	c.322C>T	c.(322-324)CGT>TGT	p.R108C	LINGO2_uc010mjf.1_Missense_Mutation_p.R108C|LINGO2_uc003zqv.1_Missense_Mutation_p.R108C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438		NA											28	163					0	0	0	0
NCBP1	4686	broad.mit.edu	37	9	100412850	100412850	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:100412850C>T	uc004axq.2	+	9	1422	c.963C>T	c.(961-963)ATC>ATT	p.I321I		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	321					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				TTCACTGCATCATTAAGTCCC	0.403		NA											22	137					0	0	0	0
TLR7	51284	broad.mit.edu	37	X	12905767	12905767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:12905767G>A	uc004cvc.2	+	3	2279	c.2140G>A	c.(2140-2142)GTC>ATC	p.V714I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	714	LRR 24.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	ACTGACCACTGTCCCTGAGAG	0.418		NA											15	76					0	0	0	0
CA5B	11238	broad.mit.edu	37	X	15792452	15792452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:15792452A>T	uc004cxe.2	+	5	604	c.487A>T	c.(487-489)AGA>TGA	p.R163*		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial precursor	163					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding				0	Hepatocellular(33;0.183)					GAACGCAGTCAGATTTGAAAA	0.403		NA											6	45					0	0	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972705	29972705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:29972705C>G	uc004dby.2	+	10	1776	c.1268C>G	c.(1267-1269)ACT>AGT	p.T423S		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	423	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						AATCAAGAGACTGGGGAAGAA	0.363		NA											9	45					0	0	0	0
TRO	7216	broad.mit.edu	37	X	54951479	54951479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:54951479G>A	uc004dtq.2	+	6	1570	c.1463G>A	c.(1462-1464)CGA>CAA	p.R488Q	TRO_uc004dts.2_Missense_Mutation_p.R488Q|TRO_uc004dtr.2_Missense_Mutation_p.R488Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.R91Q|TRO_uc011mok.1_Missense_Mutation_p.R19Q|TRO_uc004dtw.2_Missense_Mutation_p.R91Q|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	488	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATCATTGAACGAGCAAGCTAC	0.473		NA											4	34					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133549	91133549	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:91133549G>T	uc004efk.1	+	2	3155	c.2310G>T	c.(2308-2310)CTG>CTT	p.L770L	PCDH11X_uc004efl.1_Silent_p.L770L|PCDH11X_uc004efo.1_Silent_p.L770L|PCDH11X_uc010nmv.1_Silent_p.L770L|PCDH11X_uc004efm.1_Silent_p.L770L|PCDH11X_uc004efn.1_Silent_p.L770L|PCDH11X_uc004efh.1_Silent_p.L770L|PCDH11X_uc004efj.1_Silent_p.L770L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	770	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TTGTCAATCTGTTCGTGAATG	0.423		NA											13	91					4.37e-10	5.21e-10	1	0
ARL13A	392509	broad.mit.edu	37	X	100243214	100243214	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:100243214A>G	uc004ego.2	+	7	802	c.686A>G	c.(685-687)AAA>AGA	p.K229R	ARL13A_uc011mrf.1_Missense_Mutation_p.K229R|ARL13A_uc010nng.2_Missense_Mutation_p.K229R	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	229							GTP binding			ovary(1)	1						TCAAAGGAGAAAAGACAGCAT	0.418		NA											2	15					0	0	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139287	101139287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:101139287G>A	uc004eim.2	-	2	4097	c.599C>T	c.(598-600)TCA>TTA	p.S200L	ZMAT1_uc011mrl.1_Missense_Mutation_p.S371L|ZMAT1_uc004ein.2_Missense_Mutation_p.S200L|ZMAT1_uc011mrm.1_Missense_Mutation_p.S200L	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	200						nucleus	zinc ion binding			ovary(1)	1						TTCCACTGGTGAAATATGGTA	0.423		NA											43	162					0	0	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686312	125686312	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:125686312G>T	uc004eul.2	-	1	531	c.280C>A	c.(280-282)CTG>ATG	p.L94M		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	94										skin(3)|ovary(1)	4						ACCGTGCCCAGCTCCAGTTGG	0.662		NA											13	34					9.31e-06	1.07e-05	1	0
CXorf1	9142	broad.mit.edu	37	X	144909491	144909491	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:144909491C>A	uc004fch.2	+	1	564	c.296C>A	c.(295-297)GCC>GAC	p.A99D		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	99											0	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCCAGGGCCCTGCCAAGA	0.398		NA											12	25					9.05e-12	1.09e-11	1	0
TUFT1	7286	broad.mit.edu	37	1	151547445	151547445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151547445delG	uc001eyl.2	+	9	844	c.782delG	c.(781-783)CGGfs	p.R261fs	TUFT1_uc001eym.2_Frame_Shift_Del_p.R236fs|TUFT1_uc010pdf.1_Frame_Shift_Del_p.R280fs|TUFT1_uc010pdg.1_Frame_Shift_Del_p.R209fs	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	261	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	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)			GAGGAACTTCGGAGCAACAAT	0.547		NA											2	4	---	---	---	---	NA	NA	NA	NA
CLEC4D	338339	broad.mit.edu	37	12	8671707	8671708	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:8671707_8671708insTT	uc001qun.2	+	4	528_529	c.335_336insTT	c.(334-336)TGTfs	p.C112fs		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	112	C-type lectin.|Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					GAAAGGAACTGTTCAGGGATGG	0.505		NA											7	114	---	---	---	---	NA	NA	NA	NA
JUB	84962	broad.mit.edu	37	14	23447610	23447611	+	Frame_Shift_Ins	INS	-	-	ATTG			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:23447610_23447611insATTG	uc001whz.2	-	2	1426_1427	c.1050_1051insCAAT	c.(1048-1053)AATGCCfs	p.N350fs	JUB_uc001why.2_5'Flank	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	350_351	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		GCCTGGCAGGCATTGCTCTGCC	0.545		NA											36	140	---	---	---	---	NA	NA	NA	NA
POTEE	445582	broad.mit.edu	37	2	131976431	131976431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:131976431delC	uc002tsn.2	+	1	508	c.456delC	c.(454-456)GTCfs	p.V152fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	152							ATP binding				0						GGGGTAAAGTCCCCAGAAAGG	0.572		NA											14	204	---	---	---	---	NA	NA	NA	NA
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs150114751	byFrequency	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:137880741_137880743delTCG	uc003erv.2	-	8	1759_1761	c.1623_1625delCGA	c.(1621-1626)GATGAT>GAT	p.541_542DD>D	DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	541_542						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTAAGCTGCATCGTCATCATCAT	0.251		NA											7	150	---	---	---	---	NA	NA	NA	NA