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
GJB3	2707	broad.mit.edu	37	1	35250490	35250490	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:35250490G>A	uc001bxx.2	+	2	742	c.127G>A	c.(127-129)GTG>ATG	p.V43M	GJB3_uc001bxy.2_Missense_Mutation_p.V43M|GJB3_uc001bxz.3_Missense_Mutation_p.V43M|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	43	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCAGAGCGCGTGTGGGGGGA	0.592		NA											5	18					0	0	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701511	48701511	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:48701511C>T	uc001cro.2	+	10	1304	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R443C|SLC5A9_uc010omt.1_Missense_Mutation_p.R432C|SLC5A9_uc001crp.2_Missense_Mutation_p.R85C|SLC5A9_uc010omu.1_Missense_Mutation_p.R85C	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	418	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GCAGCGCTTCCGCAGGAAGTC	0.617		NA											15	23					0	0	0	0
PDE4B	5142	broad.mit.edu	37	1	66838038	66838038	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:66838038T>C	uc001dcn.2	+	17	2079	c.1888T>C	c.(1888-1890)TGG>CGG	p.W630R	PDE4B_uc009war.2_Missense_Mutation_p.W538R|PDE4B_uc001dco.2_Missense_Mutation_p.W630R|PDE4B_uc001dcp.2_Missense_Mutation_p.W615R|PDE4B_uc001dcq.2_Missense_Mutation_p.W458R|PDE4B_uc009was.2_Missense_Mutation_p.W397R	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	630					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GTGGGAGACATGGGCAGATTT	0.433		NA											30	45					0	0	0	0
WDR63	126820	broad.mit.edu	37	1	85564339	85564339	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:85564339G>A	uc001dkt.2	+	13	1668	c.1477G>A	c.(1477-1479)GAG>AAG	p.E493K	WDR63_uc009wcl.2_Missense_Mutation_p.E454K	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	493	WD 2.									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGACACATTTGAGGTGAGACT	0.328		NA											32	46					0	0	0	0
AGL	178	broad.mit.edu	37	1	100347238	100347238	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:100347238T>C	uc001dsi.1	+	17	2699	c.2299T>C	c.(2299-2301)TGC>CGC	p.C767R	AGL_uc001dsj.1_Missense_Mutation_p.C767R|AGL_uc001dsk.1_Missense_Mutation_p.C767R|AGL_uc001dsl.1_Missense_Mutation_p.C767R|AGL_uc001dsm.1_Missense_Mutation_p.C751R|AGL_uc001dsn.1_Missense_Mutation_p.C750R	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	767	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCTCAAATGTGCATCCCTGG	0.284		NA											25	53					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NA											3	27					0	0	0	0
SEMA4A	64218	broad.mit.edu	37	1	156130751	156130751	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156130751C>T	uc001fnl.2	+	8	845	c.741C>T	c.(739-741)TTC>TTT	p.F247F	SEMA4A_uc009wrq.2_Silent_p.F247F|SEMA4A_uc001fnm.2_Silent_p.F247F|SEMA4A_uc001fnn.2_Silent_p.F115F|SEMA4A_uc001fno.2_Silent_p.F247F	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	247	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					ACTTCTTCTTCGAGGAGACAG	0.632		NA											54	156					0	0	0	0
BCAN	63827	broad.mit.edu	37	1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:156622478G>A	uc001fpp.2	+	8	2072	c.1736G>A	c.(1735-1737)CGA>CAA	p.R579Q	BCAN_uc001fpo.2_Missense_Mutation_p.R579Q	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	579					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642		NA											18	30					0	0	0	0
OR10X1	128367	broad.mit.edu	37	1	158549198	158549198	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:158549198A>C	uc010pin.1	-	1	492	c.492T>G	c.(490-492)GCT>GCG	p.A164A		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463		NA											11	35					0	0	0	0
ACTN2	88	broad.mit.edu	37	1	236912510	236912510	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:236912510C>T	uc001hyf.2	+	14	1806	c.1602C>T	c.(1600-1602)GGC>GGT	p.G534G	ACTN2_uc001hyg.2_Silent_p.G326G|ACTN2_uc009xgi.1_Silent_p.G534G|ACTN2_uc010pxu.1_Silent_p.G223G|ACTN2_uc001hyh.2_Silent_p.G222G	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	534	Spectrin 3.				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)			GGATGGAGGGCGCTATGGAGG	0.443		NA											9	48					0	0	0	0
C10orf10	11067	broad.mit.edu	37	10	45473220	45473220	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:45473220C>T	uc001jbr.3	-	2	549	c.259G>A	c.(259-261)GCA>ACA	p.A87T	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	87						mitochondrion					0						CTGAAACGTGCGGTGATGTCT	0.667		NA											12	28					0	0	0	0
TACC2	10579	broad.mit.edu	37	10	123970459	123970459	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr10:123970459G>A	uc001lfv.2	+	9	6879	c.6519G>A	c.(6517-6519)ACG>ACA	p.T2173T	TACC2_uc001lfw.2_Silent_p.T319T|TACC2_uc009xzx.2_Silent_p.T2128T|TACC2_uc010qtv.1_Silent_p.T2177T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.T251T|TACC2_uc001lga.2_Silent_p.T251T|TACC2_uc009xzy.2_Silent_p.T251T|TACC2_uc001lgb.2_Silent_p.T208T|TACC2_uc010qtw.1_Silent_p.T268T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2173						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGAGACGAAAACGGAAT	0.592		NA											36	63					0	0	0	0
ANO5	203859	broad.mit.edu	37	11	22281076	22281076	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:22281076C>T	uc001mqi.2	+	15	1736	c.1419C>T	c.(1417-1419)GTC>GTT	p.V473V	ANO5_uc001mqj.2_Silent_p.V472V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	473	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TGTCTCTTGTCGTCACCAGTA	0.383		NA											29	35					0	0	0	0
BSCL2	26580	broad.mit.edu	37	11	62458817	62458817	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:62458817C>T	uc001nuo.1	-	7	1172	c.748G>A	c.(748-750)GTG>ATG	p.V250M	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.V250M|BSCL2_uc001nuq.1_Missense_Mutation_p.V250M|BSCL2_uc001nur.3_Missense_Mutation_p.V314M|BSCL2_uc009yod.2_Missense_Mutation_p.V314M|BSCL2_uc001nut.3_Missense_Mutation_p.V314M|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	250	Helical; (Potential).				cell death	integral to endoplasmic reticulum membrane					0						CTGAAGAGCACGATGACGCTG	0.562		NA											14	27					0	0	0	0
ATM	472	broad.mit.edu	37	11	108153603	108153603	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:108153603A>G	uc001pkb.1	+	25	4128	c.3743A>G	c.(3742-3744)TAT>TGT	p.Y1248C	ATM_uc009yxr.1_Missense_Mutation_p.Y1248C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1248					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGATTTCTATAGGTAAGTT	0.294		NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			3	8					0	0	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275690	130275690	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr11:130275690G>A	uc001qgg.3	-	9	2791	c.2433C>T	c.(2431-2433)GAC>GAT	p.D811D	ADAMTS8_uc001qgf.2_Silent_p.D292D	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	811	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAAAGTCCACGTCATTAGGAA	0.567		NA											57	105					0	0	0	0
SPSB2	84727	broad.mit.edu	37	12	6981424	6981424	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:6981424G>A	uc001qrl.2	-	2	798	c.642C>T	c.(640-642)ATC>ATT	p.I214I	SPSB2_uc001qrm.2_Silent_p.I214I|SPSB2_uc010sfp.1_Silent_p.I214I|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	214	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						CCAGGTAGCGGATGCGGACCT	0.617		NA									OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	148	113					0	0	0	0
RARG	5916	broad.mit.edu	37	12	53609209	53609209	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:53609209G>A	uc001sce.2	-	5	828	c.343C>T	c.(343-345)CGC>TGC	p.R115C	RARG_uc001scd.2_Missense_Mutation_p.R104C|RARG_uc010sob.1_Missense_Mutation_p.R93C|RARG_uc001scf.2_Missense_Mutation_p.R115C|RARG_uc001scg.2_Missense_Mutation_p.R43C|RARG_uc010soc.1_5'UTR|RARG_uc010sod.1_Missense_Mutation_p.R152C	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	115	Nuclear receptor.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ATGCTTCGGCGAAAGAAGCCC	0.552		NA											20	35					0	0	0	0
DHX37	57647	broad.mit.edu	37	12	125441262	125441262	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr12:125441262G>A	uc001ugy.2	-	18	2527	c.2428C>T	c.(2428-2430)CGG>TGG	p.R810W		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	810							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACAGCTCCCGCACCGTCATG	0.617		NA											19	35					0	0	0	0
ZMYM5	9205	broad.mit.edu	37	13	20412924	20412924	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:20412924G>A	uc010tcn.1	-	5	1053	c.788C>T	c.(787-789)TCA>TTA	p.S263L	ZMYM5_uc001umm.1_Missense_Mutation_p.S87L|ZMYM5_uc001umn.2_Missense_Mutation_p.S263L|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	263						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GAGGTGAGCTGATCCTTTTCG	0.403		NA											51	83					0	0	0	0
SCEL	8796	broad.mit.edu	37	13	78176794	78176794	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr13:78176794A>G	uc001vki.2	+	17	1153	c.983A>G	c.(982-984)CAA>CGA	p.Q328R	SCEL_uc001vkj.2_Missense_Mutation_p.Q308R|SCEL_uc010thx.1_Missense_Mutation_p.Q306R	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	328	16 X approximate tandem repeats.|5.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAAGAAGACAAAATCTCGAA	0.358		NA											21	54					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33292161	33292161	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:33292161G>A	uc001wrq.2	+	13	5312	c.5142G>A	c.(5140-5142)TCG>TCA	p.S1714S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1714					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCGGAATCGAATGCATCGT	0.468		NA											24	51					0	0	0	0
SPTBN5	51332	broad.mit.edu	37	15	42169045	42169045	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:42169045G>A	uc001zos.2	-	19	4041	c.3708C>T	c.(3706-3708)GGC>GGT	p.G1236G		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1271	Spectrin 9.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTTCTCGCCGTGTGCCC	0.672		NA											8	20					0	0	0	0
TMEM62	80021	broad.mit.edu	37	15	43452910	43452910	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43452910A>G	uc001zqr.2	+	10	1493	c.1214A>G	c.(1213-1215)CAC>CGC	p.H405R	TMEM62_uc010bda.2_Missense_Mutation_p.H275R|TMEM62_uc001zqt.2_5'UTR	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	405						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTGTTCACCACATATTTTCT	0.318		NA											13	56					0	0	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931101	43931101	+	Splice_Site	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:43931101C>T	uc001zsh.2	-	7	1057	c.842_splice	c.e7+1	p.S281_splice	CATSPER2_uc010bdm.2_Splice_Site|CATSPER2_uc001zsi.2_Splice_Site_p.S281_splice|CATSPER2_uc001zsj.2_Splice_Site_p.S281_splice	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTTACGAGAAGAACA	0.463		NA											22	17					0	0	0	0
MAPK6	5597	broad.mit.edu	37	15	52350913	52350913	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr15:52350913G>A	uc002abp.2	+	4	1578	c.784G>A	c.(784-786)GTA>ATA	p.V262I		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	262	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)		GCTTCTCAGCGTAATTCCAGT	0.408		NA											11	19					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20999297	20999297	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:20999297T>C	uc010vbe.1	-	45	6692	c.6692A>G	c.(6691-6693)CAC>CGC	p.H2231R	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2231	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTTCCCGAAGTGCCAGTCAAC	0.448		NA											9	33					0	0	0	0
POLR3E	55718	broad.mit.edu	37	16	22324968	22324968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:22324968G>A	uc002dkk.2	+	7	548	c.392G>A	c.(391-393)GGC>GAC	p.G131D	POLR3E_uc002dkj.1_Missense_Mutation_p.G131D|POLR3E_uc002dkm.2_Missense_Mutation_p.G95D|POLR3E_uc010vbr.1_Missense_Mutation_p.G131D|POLR3E_uc002dkl.2_Missense_Mutation_p.G131D|POLR3E_uc010vbs.1_Missense_Mutation_p.G95D|POLR3E_uc010vbt.1_Missense_Mutation_p.G75D	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	131					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		CCTTTACATGGCATCCTGCAG	0.612		NA											3	39					0	0	0	0
CACNG3	10368	broad.mit.edu	37	16	24366272	24366272	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:24366272G>A	uc002dmf.2	+	3	1614	c.414G>A	c.(412-414)GCG>GCA	p.A138A		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	138	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		TTCTCAGCGCGGGCATCTTTT	0.572		NA											6	25					0	0	0	0
C16orf58	64755	broad.mit.edu	37	16	31510704	31510704	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr16:31510704G>A	uc002eci.1	-	5	531	c.519C>T	c.(517-519)GAC>GAT	p.D173D	C16orf58_uc010vfq.1_Silent_p.D31D	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	173						integral to membrane				ovary(1)|breast(1)	2						ACATGGCTACGTCATTGAGGA	0.547		NA											19	24					0	0	0	0
KRT40	125115	broad.mit.edu	37	17	39135155	39135155	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:39135155T>A	uc010cxh.1	-	8	1258	c.1097A>T	c.(1096-1098)GAG>GTG	p.E366V	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	366	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				GTTCTGTCGCTCCAGGTCGCA	0.617		NA											24	56					0	0	0	0
DLX4	1748	broad.mit.edu	37	17	48050507	48050507	+	Silent	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr17:48050507C>A	uc002ipv.2	+	2	625	c.354C>A	c.(352-354)CGC>CGA	p.R118R	DLX4_uc002ipw.2_Silent_p.R46R	NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	118	Homeobox.				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAAAGCTCCGCAAGCCGAGGA	0.677		NA											6	15					1.42e-15	1.53e-15	1	0
NPC1	4864	broad.mit.edu	37	18	21140392	21140392	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr18:21140392G>A	uc002kum.3	-	6	958	c.684C>T	c.(682-684)GAC>GAT	p.D228D	NPC1_uc010xaz.1_Silent_p.D12D|NPC1_uc010xba.1_Silent_p.D73D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	228					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCACAGACTCGTCACAGCCTT	0.512		NA											18	19					0	0	0	0
CDC37	11140	broad.mit.edu	37	19	10505957	10505957	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:10505957C>T	uc002mof.1	-	4	666	c.550G>A	c.(550-552)GAG>AAG	p.E184K	CDC37_uc002moe.1_Missense_Mutation_p.E139K|CDC37_uc010dxf.1_Missense_Mutation_p.E21K|CDC37_uc002mog.1_Missense_Mutation_p.E184K|CDC37_uc002moh.2_Missense_Mutation_p.E184K	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	184					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCTGTCTCCTCGCACACCAGG	0.587		NA											49	84					0	0	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369528	19369528	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:19369528G>T	uc002nmb.2	-	4	676	c.621C>A	c.(619-621)GAC>GAA	p.D207E	HAPLN4_uc002nmc.2_Missense_Mutation_p.D207E	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	207	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CGTTGCACCAGTCCAGGCCGT	0.731		NA											4	7					0.00024832	0.000258479	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770448	31770448	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr19:31770448C>T	uc002nsy.3	-	2	316	c.251G>A	c.(250-252)CGA>CAA	p.R84Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	84					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTCAGCCATTCGGTCACTGGT	0.587		NA											10	21					0	0	0	0
THADA	63892	broad.mit.edu	37	2	43755035	43755035	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:43755035G>A	uc002rsw.3	-	22	3709	c.3357C>T	c.(3355-3357)CTC>CTT	p.L1119L	THADA_uc010far.2_Silent_p.L388L|THADA_uc002rsx.3_Silent_p.L1119L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L828L|THADA_uc010fat.1_Silent_p.L266L|THADA_uc002rta.2_Silent_p.L829L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1119							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTACTTCAGTGAGTTTCACAA	0.323		NA											6	130					0	0	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989537	121989537	+	Silent	SNP	G	G	A	rs145068402		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:121989537G>A	uc002tmx.2	-	13	1299	c.1206C>T	c.(1204-1206)CAC>CAT	p.H402H	TFCP2L1_uc010flr.2_Intron|TFCP2L1_uc010flq.2_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	402					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GGAAGATGGCGTGGTACACTG	0.572		NA											27	47					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141081592	141081592	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:141081592T>C	uc002tvj.1	-	81	13356	c.12384A>G	c.(12382-12384)ATA>ATG	p.I4128M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4128	Extracellular (Potential).				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)		CTGCTCCATATATATAATCTT	0.294		NA								TSP Lung(27;0.18)			26	39					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179654722	179654722	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:179654722G>T	uc010zfg.1	-	12	2145	c.1921C>A	c.(1921-1923)CAA>AAA	p.Q641K	TTN_uc010zfh.1_Missense_Mutation_p.Q595K|TTN_uc010zfi.1_Missense_Mutation_p.Q595K|TTN_uc010zfj.1_Missense_Mutation_p.Q595K|TTN_uc002unb.2_Missense_Mutation_p.Q641K|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	641							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)			TGAGTTATTTGCACTTGTTCT	0.328		NA											12	48					1.58e-08	1.68e-08	1	0
C2orf67	151050	broad.mit.edu	37	2	211018639	211018639	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:211018639C>T	uc002vds.2	-	2	876	c.668G>A	c.(667-669)CGT>CAT	p.R223H	C2orf67_uc002vdt.2_Missense_Mutation_p.R223H|C2orf67_uc002vdw.2_Missense_Mutation_p.R223H|C2orf67_uc002vdy.1_Missense_Mutation_p.R223H|C2orf67_uc002vdv.2_Missense_Mutation_p.R223H|C2orf67_uc002vdx.1_Missense_Mutation_p.R223H	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	223										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		ATGAAGTAAACGAGCATGTAC	0.403		NA											24	66					0	0	0	0
SLC23A2	9962	broad.mit.edu	37	20	4842675	4842675	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:4842675G>A	uc002wlg.1	-	15	1918	c.1543C>T	c.(1543-1545)CGG>TGG	p.R515W	SLC23A2_uc010zqr.1_Missense_Mutation_p.R400W|SLC23A2_uc002wlh.1_Missense_Mutation_p.R515W	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	515	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						AAGAGGTTCCGGGAAGAATTT	0.473		NA											14	20					0	0	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165392	18165392	+	Silent	SNP	A	A	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:18165392A>C	uc002wqj.2	+	10	2753	c.2131A>C	c.(2131-2133)AGA>CGA	p.R711R	CSRP2BP_uc002wqk.2_Silent_p.R583R|CSRP2BP_uc010zru.1_Silent_p.R582R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	711	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						CCCTGAATGGAGAAGAGCAGG	0.393		NA											22	52					0	0	0	0
EYA2	2139	broad.mit.edu	37	20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:45812032C>T	uc002xsm.2	+	15	1903	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	EYA2_uc010ghp.2_Missense_Mutation_p.A431V|EYA2_uc002xsn.2_Missense_Mutation_p.A515V|EYA2_uc002xso.2_Missense_Mutation_p.A510V|EYA2_uc002xsp.2_Missense_Mutation_p.A510V|EYA2_uc002xsq.2_Missense_Mutation_p.A480V	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	510					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.403		NA											22	24					0	0	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47567892	47567892	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:47567892C>T	uc002xtx.3	+	4	461	c.309C>T	c.(307-309)AAC>AAT	p.N103N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	103					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCACTGGCAACGCCCCTGACA	0.517		NA											11	25					0	0	0	0
BCAS1	8537	broad.mit.edu	37	20	52570172	52570172	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr20:52570172C>T	uc002xws.2	-	11	1817	c.1479G>A	c.(1477-1479)CAG>CAA	p.Q493Q	BCAS1_uc010zza.1_Silent_p.Q159Q|BCAS1_uc010zzb.1_Silent_p.Q419Q|BCAS1_uc010gim.2_Silent_p.Q349Q|BCAS1_uc002xwt.2_Silent_p.Q479Q|BCAS1_uc010gil.1_Silent_p.Q415Q	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	493						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTTACCCTTCTGTGGTGCTC	0.493		NA											15	40					0	0	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858909	38858909	+	Silent	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:38858909C>T	uc002ywk.2	+	5	732	c.657C>T	c.(655-657)TAC>TAT	p.Y219Y	DYRK1A_uc002ywh.1_Silent_p.Y181Y|DYRK1A_uc002ywi.2_Silent_p.Y219Y|DYRK1A_uc002ywj.2_Silent_p.Y210Y|DYRK1A_uc002ywl.2_Silent_p.Y219Y|DYRK1A_uc002ywm.2_Silent_p.Y219Y|DYRK1A_uc011aei.1_5'Flank	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	219	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						AAATGAAATACTACATAGGTA	0.348		NA											13	18					0	0	0	0
DIP2A	23181	broad.mit.edu	37	21	47916967	47916967	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr21:47916967C>T	uc002zjo.2	+	4	533	c.350C>T	c.(349-351)TCG>TTG	p.S117L	DIP2A_uc011afy.1_Missense_Mutation_p.S53L|DIP2A_uc011afz.1_Missense_Mutation_p.S117L|DIP2A_uc002zjl.2_Missense_Mutation_p.S117L|DIP2A_uc002zjm.2_Missense_Mutation_p.S117L|DIP2A_uc010gql.2_Missense_Mutation_p.S117L|DIP2A_uc002zjn.2_Missense_Mutation_p.S117L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	117					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTATGCCTTCGAAGAGACGT	0.438		NA											8	13					0	0	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021582	27021582	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:27021582G>T	uc003acz.3	+	4	331	c.296G>T	c.(295-297)TGT>TTT	p.C99F		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	99	Connecting peptide.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						CCTGCGGCCTGTGCTGTAAGT	0.502		NA											21	65					2.28e-19	2.47e-19	1	0
RBX1	9978	broad.mit.edu	37	22	41363843	41363843	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:41363843C>T	uc003azk.2	+	4	287	c.269C>T	c.(268-270)ACA>ATA	p.T90I	XPNPEP3_uc011aoy.1_RNA	NM_014248	NP_055063	P62877	RBX1_HUMAN	ring-box 1	90	RING-type.				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			skin(1)	1						TGGCTCAAAACACGACAGGTG	0.438		NA											15	36					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719042	50719042	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50719042C>T	uc003bkv.3	-	25	4157	c.4051G>A	c.(4051-4053)GCG>ACG	p.A1351T	PLXNB2_uc003bkt.1_Missense_Mutation_p.A143T|PLXNB2_uc003bku.1_Missense_Mutation_p.A336T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1351	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGGGACGCGAAGTAGACC	0.637		NA											7	37					0	0	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960982	50960982	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr22:50960982G>T	uc003blr.3	+	16	1481	c.1359G>T	c.(1357-1359)AGG>AGT	p.R453S	NCAPH2_uc003blv.2_Missense_Mutation_p.R453S|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.R454S|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	453					chromosome condensation	chromosome|nucleus				ovary(1)|skin(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGACCCCAGGGAAGCCGCTG	0.652		NA											16	30					5.39e-06	5.66e-06	1	0
OXTR	5021	broad.mit.edu	37	3	8794894	8794894	+	Silent	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:8794894G>A	uc003brc.2	-	4	1561	c.939C>T	c.(937-939)ATC>ATT	p.I313I		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	313	Helical; Name=7; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGAGCATGACGATGATGAAGG	0.552		NA											10	14					0	0	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50418478	50418478	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:50418478T>C	uc003daq.2	-	7	770	c.732A>G	c.(730-732)ACA>ACG	p.T244T	CACNA2D2_uc003dap.2_Silent_p.T244T	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	244	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCACAGCAGTGTGGGGTCTT	0.607		NA											36	62					0	0	0	0
AGTR1	185	broad.mit.edu	37	3	148459232	148459232	+	Missense_Mutation	SNP	G	G	A	rs56257794		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:148459232G>A	uc003ewg.2	+	4	856	c.410G>A	c.(409-411)CGC>CAC	p.R137H	AGTR1_uc003ewh.2_Missense_Mutation_p.R137H|AGTR1_uc003ewi.2_Missense_Mutation_p.R137H|AGTR1_uc003ewj.2_Missense_Mutation_p.R137H|AGTR1_uc003ewk.2_Missense_Mutation_p.R137H	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	137	Cytoplasmic (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGAAGTCCCGCCTTCGACGC	0.488		NA											45	151					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	52					0	0	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258218	25258218	+	Silent	SNP	A	A	G			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:25258218A>G	uc003grk.2	+	4	811	c.678A>G	c.(676-678)AAA>AAG	p.K226K	PI4K2B_uc011bxs.1_Silent_p.K130K	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	226	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				ACCGTGCAAAATCAAGAGGCA	0.363		NA											28	57					0	0	0	0
TLR10	81793	broad.mit.edu	37	4	38776633	38776633	+	Silent	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:38776633C>A	uc003gti.2	-	2	958	c.579G>T	c.(577-579)CTG>CTT	p.L193L	TLR10_uc003gtj.2_Silent_p.L193L|TLR10_uc003gtk.2_Silent_p.L193L	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	193	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						AAACAATGTGCAGTTTTGTTG	0.358		NA											21	45					7.42e-09	7.9e-09	1	0
POLR2B	5431	broad.mit.edu	37	4	57889516	57889516	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:57889516G>A	uc003hcl.1	+	19	2579	c.2536G>A	c.(2536-2538)GAC>AAC	p.D846N	POLR2B_uc011cae.1_Missense_Mutation_p.D839N|POLR2B_uc011caf.1_Missense_Mutation_p.D771N|POLR2B_uc003hcm.1_Missense_Mutation_p.D339N	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	846					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TGCCATTTACGACAAGCTGGA	0.418		NA											10	29					0	0	0	0
GC	2638	broad.mit.edu	37	4	72629179	72629179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:72629179G>T	uc003hge.2	-	6	800	c.647C>A	c.(646-648)TCA>TAA	p.S216*	GC_uc003hgd.2_Nonsense_Mutation_p.S94*|GC_uc010iie.2_Nonsense_Mutation_p.S216*|GC_uc010iif.2_Nonsense_Mutation_p.S235*	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	216	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GACTCTATTTGACAGAGTGGT	0.358		NA											24	48					1.18e-12	1.27e-12	1	0
KIAA1109	84162	broad.mit.edu	37	4	123176339	123176339	+	Silent	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr4:123176339T>C	uc003ieh.2	+	38	6324	c.6279T>C	c.(6277-6279)GTT>GTC	p.V2093V	KIAA1109_uc003iel.1_Silent_p.V28V|KIAA1109_uc003iek.2_Silent_p.V712V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2093					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTACAAAAGTTGCTCGCTTTC	0.338		NA											5	53					0	0	0	0
NPR3	4883	broad.mit.edu	37	5	32712195	32712195	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:32712195G>A	uc003jhv.2	+	1	531	c.313G>A	c.(313-315)GAT>AAT	p.D105N	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.D105N	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	105	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GGCTTACGAGGATTCAGACTG	0.682		NA											25	44					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82834751	82834751	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr5:82834751T>C	uc003kii.3	+	8	6285	c.5929T>C	c.(5929-5931)TCA>CCA	p.S1977P	VCAN_uc003kij.3_Missense_Mutation_p.S990P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S641P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1977	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTACCTACTTCAGTTCACAT	0.488		NA											13	31					0	0	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595084	1595084	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:1595084C>T	uc003skv.3	-	2	354	c.37G>A	c.(37-39)GTC>ATC	p.V13I	TMEM184A_uc003skw.3_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	13						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ACCAGGGGGACGCCGGCTGTC	0.677		NA											19	32					0	0	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831655	27831655	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:27831655C>T	uc003szl.2	+	9	1227	c.1069C>T	c.(1069-1071)CGT>TGT	p.R357C	TAX1BP1_uc011jzo.1_Missense_Mutation_p.R357C|TAX1BP1_uc003szk.2_Missense_Mutation_p.R357C|TAX1BP1_uc011jzp.1_Missense_Mutation_p.R200C	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	357	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			GGAGCAACTTCGTAAAGCAGA	0.388		NA											14	30					0	0	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591668	138591668	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:138591668C>T	uc011kql.1	-	6	3506	c.3457G>A	c.(3457-3459)GAG>AAG	p.E1153K	KIAA1549_uc003vuk.3_Missense_Mutation_p.E1103K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E1153K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1153						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TACTCACGCTCTGCGATCTGC	0.468		NA	O	BRAF	pilocytic astrocytoma								20	31					0	0	0	0
AGK	55750	broad.mit.edu	37	7	141315304	141315304	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr7:141315304C>T	uc003vwi.2	+	8	628	c.457C>T	c.(457-459)CCA>TCA	p.P153S	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	153	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					TGGATTTATCCCACTGGGAGA	0.443		NA											54	112					0	0	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290623	23290623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:23290623C>T	uc003xdl.2	-	13	1831	c.1667G>A	c.(1666-1668)CGG>CAG	p.R556Q	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Missense_Mutation_p.R548Q	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	556	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGAAACGCCCCGCCAGTGGGT	0.582		NA											9	15					0	0	0	0
DEPDC6	64798	broad.mit.edu	37	8	120977572	120977572	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:120977572C>A	uc003yow.3	+	4	713	c.526C>A	c.(526-528)CAG>AAG	p.Q176K	DEPDC6_uc011lid.1_Missense_Mutation_p.Q75K	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	176	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGCTGGTTCAGGAAGGTGA	0.527		NA											12	43					0.000151284	0.000158192	1	0
EPPK1	83481	broad.mit.edu	37	8	144941384	144941384	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:144941384G>A	uc003zaa.1	-	1	6051	c.6038C>T	c.(6037-6039)ACG>ATG	p.T2013M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2013	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACACCCCCCGTGGCCACCTG	0.627		NA											9	18					0	0	0	0
JAK2	3717	broad.mit.edu	37	9	5065041	5065041	+	Splice_Site	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:5065041G>A	uc010mhm.2	+	8	1327	c.1214_splice	c.e8+1	p.S405_splice	JAK2_uc003ziw.2_Splice_Site_p.S405_splice	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCCCAATTTCGTGAGTAATAC	0.313		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				11	6					0	0	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853517	35853517	+	Missense_Mutation	SNP	C	C	T	rs148540551	by1000genomes	TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:35853517C>T	uc003zym.2	+	14	2114	c.1099C>T	c.(1099-1101)CGC>TGC	p.R367C	TMEM8B_uc003zyo.2_Missense_Mutation_p.R367C	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	367	Cytoplasmic (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						ACGCAGCGTCCGCCGCCGGCA	0.597		NA											14	8					0	0	0	0
UBQLN1	29979	broad.mit.edu	37	9	86322560	86322560	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:86322560C>T	uc004amv.2	-	1	609	c.35G>A	c.(34-36)GGC>GAC	p.G12D	UBQLN1_uc004amw.2_Missense_Mutation_p.G12D|uc004amx.2_5'Flank	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	12					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						ATCCTGGGAGCCCGGAGGACC	0.706		NA											4	2					0	0	0	0
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr9:94171927C>T	uc004arh.2	-	2	1485	c.1090G>A	c.(1090-1092)GAA>AAA	p.E364K		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						TTTTCGAGTTCGAAATGTCTT	0.408		NA											38	89					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76890120	76890120	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chrX:76890120G>A	uc004ecp.3	-	17	5006	c.4774C>T	c.(4774-4776)CTT>TTT	p.L1592F	ATRX_uc004ecq.3_Missense_Mutation_p.L1554F|ATRX_uc004eco.3_Missense_Mutation_p.L1377F	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1592	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CAGTGGGCAAGAATGCATCCT	0.343		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						52	21					0	0	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr1:74575212_74575213insT	uc001dfy.3	-	5	924_925	c.732_733insA	c.(730-735)AAACAGfs	p.K244fs	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	244_245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						ovary(2)	2						TTTTCCTGCTGTTTTTTTTTGT	0.327		NA											9	47	---	---	---	---	NA	NA	NA	NA
ZFP36L1	677	broad.mit.edu	37	14	69257045	69257046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr14:69257045_69257046insT	uc001xkh.1	-	2	351_352	c.221_222insA	c.(220-222)GAGfs	p.E74fs	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.E74fs	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	74					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGGCTGGCTCACCCTTGAG	0.698		NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18	---	---	---	---	NA	NA	NA	NA
C2orf86	51057	broad.mit.edu	37	2	63605643	63605645	+	Splice_Site	DEL	TGC	TGC	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr2:63605643_63605645delTGC	uc002sch.2	-	12	2071	c.1625_splice	c.e12-1	p.A542_splice	C2orf86_uc002sce.2_Splice_Site|C2orf86_uc002scf.2_Splice_Site_p.A383_splice|C2orf86_uc010ypu.1_Splice_Site|C2orf86_uc002scg.2_Splice_Site_p.A350_splice|C2orf86_uc002sci.1_Splice_Site_p.A518_splice	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						TCTCAAGCTGTGCTGTGGAATTC	0.394		NA											26	42	---	---	---	---	NA	NA	NA	NA
NECAB1	64168	broad.mit.edu	37	8	91967721	91967721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7754-01A-11D-2078-08	TCGA-HD-7754-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	233ecdc4-0b42-4533-8908-64ac7d3ac33b	6dc263f5-fd86-46d4-a8db-2d147aa1c727	g.chr8:91967721delG	uc011lgg.1	+	13	1231	c.1037delG	c.(1036-1038)TGGfs	p.W346fs	NECAB1_uc003yer.2_Frame_Shift_Del_p.W95fs	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	346					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAGCTTCGTGGTGGATCCTG	0.338		NA											2	4	---	---	---	---	NA	NA	NA	NA