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
IL22RA1	58985	broad.mit.edu	37	1	24460838	24460838	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:24460838C>T	uc001biq.1	-	4	433	c.394G>A	c.(394-396)GTG>ATG	p.V132M	IL22RA1_uc010oeg.1_Missense_Mutation_p.V24M|IL22RA1_uc009vrb.1_Translation_Start_Site|IL22RA1_uc010oeh.1_Missense_Mutation_p.V132M	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	132	Extracellular (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATCGATCTCACTTTGGAGATA	0.507		NA											27	25					0	0	0	0
ZNF362	149076	broad.mit.edu	37	1	33745945	33745945	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:33745945C>T	uc001bxc.1	+	5	740	c.570C>T	c.(568-570)TCC>TCT	p.S190S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCAAGTCCGAACGCGGCC	0.657		NA											18	52					0	0	0	0
SMAP2	64744	broad.mit.edu	37	1	40839835	40839835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:40839835G>C	uc001cfj.2	+	1	108	c.43G>C	c.(43-45)GTC>CTC	p.V15L	SMAP2_uc010ojh.1_Missense_Mutation_p.V15L|SMAP2_uc001cfk.2_5'Flank	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	15	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GTACCAGGCTGTCCTGGCCAA	0.662		NA											12	22					0	0	0	0
PTPRF	5792	broad.mit.edu	37	1	44085423	44085423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:44085423C>T	uc001cjr.2	+	29	5345	c.5005C>T	c.(5005-5007)CGG>TGG	p.R1669W	PTPRF_uc001cjs.2_Missense_Mutation_p.R1660W|PTPRF_uc001cju.2_Missense_Mutation_p.R1058W|PTPRF_uc009vwt.2_Missense_Mutation_p.R1229W|PTPRF_uc001cjv.2_Missense_Mutation_p.R1140W|PTPRF_uc001cjw.2_Missense_Mutation_p.R895W	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1669	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCAAGAACCGGCTGGTGAA	0.582		NA											12	65					0	0	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877873	76877873	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:76877873A>G	uc001dhh.2	+	3	557	c.394A>G	c.(394-396)AGC>GGC	p.S132G	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.S132G|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.S67G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	132	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						GTCCCATACCAGCGTTCCTCT	0.428		NA											23	69					0	0	0	0
NEXN	91624	broad.mit.edu	37	1	78392266	78392266	+	Silent	SNP	C	C	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:78392266C>G	uc001dic.3	+	7	954	c.657C>G	c.(655-657)CTC>CTG	p.L219L	NEXN_uc001dia.3_Silent_p.L205L|NEXN_uc009wcb.1_Silent_p.L141L|NEXN_uc001dib.3_Silent_p.L155L|NEXN_uc001did.1_Silent_p.L129L|NEXN_uc001dif.1_Silent_p.L111L	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	219	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		GACCATCTCTCAAGGAAGCAA	0.313		NA											22	61					0	0	0	0
ABCA4	24	broad.mit.edu	37	1	94543340	94543340	+	Missense_Mutation	SNP	C	C	T	rs145614671		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:94543340C>T	uc001dqh.2	-	11	1564	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q	ABCA4_uc010otn.1_Missense_Mutation_p.R487Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	487	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGCTTTCCCGAGGGCCCTT	0.502		NA											55	122					0	0	0	0
PRPF38B	55119	broad.mit.edu	37	1	109242023	109242023	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:109242023G>A	uc001dvv.3	+	6	1304	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	PRPF38B_uc001dvw.3_Missense_Mutation_p.R230Q|PRPF38B_uc010ouz.1_Missense_Mutation_p.R144Q	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	341	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGTCGCAGTCGAAGTCGTGAT	0.328		NA											22	42					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175048747	175048747	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:175048747G>A	uc001gkl.1	+	3	801	c.688G>A	c.(688-690)GAG>AAG	p.E230K	TNN_uc010pmx.1_Missense_Mutation_p.E230K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	230	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGACTGCAGCGAGAAGCGCTG	0.677		NA											6	4					0	0	0	0
DENND1B	163486	broad.mit.edu	37	1	197482029	197482029	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:197482029C>T	uc010ppe.1	-	20	1848	c.1510G>A	c.(1510-1512)GAT>AAT	p.D504N	DENND1B_uc010ppf.1_RNA	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TCATCATCATCTTCATCATCA	0.373		NA											7	36					0	0	0	0
MOSC2	54996	broad.mit.edu	37	1	220955133	220955133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:220955133G>A	uc001hmq.2	+	7	1096	c.898G>A	c.(898-900)GAT>AAT	p.D300N	MOSC2_uc001hmr.2_Missense_Mutation_p.D300N|MOSC2_uc009xdx.2_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	300	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CCGCCTGTGTGATCCTTCTGA	0.393		NA											18	88					0	0	0	0
ZNF670	93474	broad.mit.edu	37	1	247201303	247201303	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:247201303G>A	uc001icd.1	-	4	789	c.618C>T	c.(616-618)TTC>TTT	p.F206F	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	206	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343		NA											5	40					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:33217097C>T	uc001iws.3	-	5	608	c.472G>A	c.(472-474)GAT>AAT	p.D158N	ITGB1_uc001iwp.3_Missense_Mutation_p.D158N|ITGB1_uc001iwq.3_Missense_Mutation_p.D158N|ITGB1_uc001iwr.3_Missense_Mutation_p.D158N|ITGB1_uc001iwt.3_Missense_Mutation_p.D158N|ITGB1_uc001iwu.1_Missense_Mutation_p.D158N	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	158	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTCTCCAAATCGTCTTTCATT	0.373		NA											18	61					0	0	0	0
TSPAN15	23555	broad.mit.edu	37	10	71258083	71258083	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:71258083G>A	uc001jpo.1	+	5	626	c.501G>A	c.(499-501)CAG>CAA	p.Q167Q		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	167	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0						GCAAGAATCAGTACCACGACT	0.627		NA											18	27					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108389025	108389025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:108389025C>T	uc001kym.2	-	19	2605	c.2597G>A	c.(2596-2598)CGT>CAT	p.R866H	SORCS1_uc001kyl.2_Missense_Mutation_p.R866H|SORCS1_uc009xxs.2_Missense_Mutation_p.R866H|SORCS1_uc001kyn.1_Missense_Mutation_p.R866H|SORCS1_uc001kyo.2_Missense_Mutation_p.R866H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	866	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACGGTCACACGGAAAATGCC	0.473		NA											9	24					0	0	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337279	64337279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:64337279C>T	uc001oai.2	+	9	1912	c.1538C>T	c.(1537-1539)CCG>CTG	p.P513L	SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Missense_Mutation_p.P405L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	513	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TTCTTCCTCCCGGAGACCCAG	0.627		NA											32	89					0	0	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818768	101818768	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:101818768G>A	uc001pgm.2	+	4	671	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	KIAA1377_uc001pgn.2_Missense_Mutation_p.R90Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	134							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTAGTTTCCCGAAAACCAGTT	0.333		NA											11	15					0	0	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		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	p.R337C(2)|p.R337S(2)|p.R337H(1)		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)		TTCAGGATTTCGTAATATTGC	0.323		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)			17	5					0	0	0	0
KDM5A	5927	broad.mit.edu	37	12	475139	475139	+	Silent	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:475139G>C	uc001qif.1	-	4	861	c.498C>G	c.(496-498)CTC>CTG	p.L166L	KDM5A_uc001qie.1_Silent_p.L166L|KDM5A_uc010sdn.1_Silent_p.L125L|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	166	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						CATATGGGTAGAGAATTCTTT	0.393		NA	T 	NUP98	AML								8	224					0	0	0	0
TMCC3	57458	broad.mit.edu	37	12	94965489	94965489	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:94965489G>A	uc001tdj.2	-	4	1274	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	TMCC3_uc001tdi.2_Missense_Mutation_p.R355C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	386	Potential.					integral to membrane				ovary(1)|skin(1)	2						TTAGAAATGCGAGTCTGGCAG	0.547		NA											30	62					0	0	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551086	101551086	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:101551086T>C	uc001thz.3	-	15	2194	c.1804A>G	c.(1804-1806)AGT>GGT	p.S602G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	602	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						CTCTTGCCACTCTGATCTGAG	0.368		NA											4	37					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111785858	111785858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:111785858C>T	uc001tsa.1	+	22	4343	c.4190C>T	c.(4189-4191)TCG>TTG	p.S1397L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1397	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TCACTGAACTCGCCCTCGGCC	0.637		NA											30	55					0	0	0	0
SUDS3	64426	broad.mit.edu	37	12	118829084	118829084	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:118829084G>A	uc001twz.2	+	6	653	c.514G>A	c.(514-516)GGA>AGA	p.G172R		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	172					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACTGACTGGAGGTAGGAA	0.463		NA											16	110					0	0	0	0
HIP1R	9026	broad.mit.edu	37	12	123340573	123340573	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:123340573A>G	uc001udj.1	+	14	1234	c.1175A>G	c.(1174-1176)GAG>GGG	p.E392G	HIP1R_uc001udg.1_Missense_Mutation_p.E380G|HIP1R_uc001udi.1_Missense_Mutation_p.E392G|HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	392	Potential.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AATGCACTGGAGGGTGAGCTG	0.682		NA											6	6					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32805362	32805362	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:32805362C>A	uc001utx.2	+	41	5948	c.5452C>A	c.(5452-5454)CAA>AAA	p.Q1818K	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333		NA											17	42					1.57e-10	2.02e-10	1	0
SMAD9	4093	broad.mit.edu	37	13	37439827	37439827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:37439827G>A	uc001uvw.2	-	5	1193	c.850C>T	c.(850-852)CGA>TGA	p.R284*	SMAD9_uc001uvx.2_Nonsense_Mutation_p.R247*|SMAD9_uc010tep.1_Nonsense_Mutation_p.R77*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	284	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCCCAACTCGGTTGTTCAGT	0.498		NA											11	32					0	0	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180950	43180950	+	Missense_Mutation	SNP	C	C	T	rs150392469		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:43180950C>T	uc001uyu.2	+	5	999	c.850C>T	c.(850-852)CGG>TGG	p.R284W	TNFSF11_uc001uyt.2_Missense_Mutation_p.R211W	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	284	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAGTTACGGTCTGGAGA	0.423		NA											19	82					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109661380	109661380	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:109661380T>C	uc001vqt.1	+	22	2638	c.2512T>C	c.(2512-2514)TTG>CTG	p.L838L	MYO16_uc010agk.1_Silent_p.L860L|MYO16_uc001vqu.1_Silent_p.L638L|MYO16_uc010tjh.1_Silent_p.L350L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	838					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAATGGAGTTTTGGACTTTTT	0.358		NA											21	54					0	0	0	0
CDH24	64403	broad.mit.edu	37	14	23517613	23517613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:23517613C>T	uc001wil.2	-	13	2296	c.2036G>A	c.(2035-2037)CGA>CAA	p.R679Q	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.R641Q	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	679	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GATGTTCTCTCGGACGTCCTC	0.602		NA											8	201					0	0	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849078	94849078	+	Missense_Mutation	SNP	G	G	A	rs142942004		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:94849078G>A	uc001ycx.3	-	2	758	c.497C>T	c.(496-498)GCC>GTC	p.A166V	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.A166V|SERPINA1_uc010aux.2_Missense_Mutation_p.A166V|SERPINA1_uc001ycy.3_Missense_Mutation_p.A166V|SERPINA1_uc010auy.2_Missense_Mutation_p.A166V|SERPINA1_uc001ycz.3_Missense_Mutation_p.A166V|SERPINA1_uc010auz.2_Missense_Mutation_p.A166V|SERPINA1_uc010ava.2_Missense_Mutation_p.A166V|SERPINA1_uc001ydb.3_Missense_Mutation_p.A166V|SERPINA1_uc010avb.2_Missense_Mutation_p.A166V|SERPINA1_uc001ydc.3_Missense_Mutation_p.A166V|SERPINA1_uc001yda.1_Missense_Mutation_p.A166V	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	166					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GACAGTGAAGGCTTCTGAGTG	0.498		NA							Alpha-1-Antitrypsin_Deficiency				80	99					0	0	0	0
DLL4	54567	broad.mit.edu	37	15	41228839	41228839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:41228839G>A	uc001zng.1	+	9	1974	c.1654G>A	c.(1654-1656)GTG>ATG	p.V552M		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	552	Cytoplasmic (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCAGTGGCTGTGCGGCAGCT	0.667		NA											12	23					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	63958585	63958585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:63958585G>A	uc002amp.2	-	41	8441	c.8293C>T	c.(8293-8295)CGG>TGG	p.R2765W		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2765					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GCAATCTGCCGAAGAGAGAAC	0.428		NA											23	75					0	0	0	0
AXIN1	8312	broad.mit.edu	37	16	396963	396963	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:396963G>A	uc002cgp.1	-	2	240	c.63C>T	c.(61-63)CCC>CCT	p.P21P	AXIN1_uc002cgq.1_Silent_p.P21P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	21	Tankyrase-binding motif.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGGGGGTCGGGGAGCATCTT	0.572		NA											25	55					0	0	0	0
TBL3	10607	broad.mit.edu	37	16	2024602	2024602	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:2024602A>C	uc002cnu.1	+	5	403	c.301A>C	c.(301-303)ACC>CCC	p.T101P	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_5'UTR|TBL3_uc010uvt.1_5'Flank|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	101	WD 1.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GGGCAGCGTTACCCGCCTGTG	0.662		NA											7	36					0	0	0	0
MMP25	64386	broad.mit.edu	37	16	3100422	3100422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:3100422A>G	uc002cth.2	+	4	773	c.536A>G	c.(535-537)CAC>CGC	p.H179R	MMP25_uc002cti.1_Missense_Mutation_p.H115R	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	179					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CGCGCCTTCCACCAGGACAGC	0.632		NA											23	60					0	0	0	0
PDILT	204474	broad.mit.edu	37	16	20371929	20371929	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:20371929C>T	uc002dhc.1	-	11	1690	c.1467G>A	c.(1465-1467)CTG>CTA	p.L489L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	489					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						TGTGGCTTTCCAGGAAGTCAG	0.468		NA											65	150					0	0	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53720433	53720433	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:53720433C>T	uc002ehp.2	-	6	752	c.688G>A	c.(688-690)GAG>AAG	p.E230K	RPGRIP1L_uc002eho.3_Missense_Mutation_p.E230K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E230K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E230K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E230K|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.E230K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	230	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TTCAGGATCTCAGCCAAGTGC	0.378		NA											4	70					0	0	0	0
CMTM4	146223	broad.mit.edu	37	16	66651242	66651242	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:66651242C>A	uc002epz.2	-	5	825	c.643G>T	c.(643-645)GTA>TTA	p.V215L	CMTM4_uc002eqa.2_3'UTR	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	chemokine-like factor superfamily 4 isoform 1	215					chemotaxis	extracellular space|integral to membrane	cytokine activity			pancreas(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTTACTGTTACGTTTGTGGAG	0.363		NA											12	21					9.31e-06	1.13e-05	1	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			21	19					0	0	0	0
ALOX15B	247	broad.mit.edu	37	17	7951079	7951079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7951079G>A	uc002gju.2	+	13	1813	c.1697G>A	c.(1696-1698)TGG>TAG	p.W566*	ALOX15B_uc002gjv.2_Nonsense_Mutation_p.W537*|ALOX15B_uc002gjw.2_Nonsense_Mutation_p.W492*|ALOX15B_uc010vun.1_Nonsense_Mutation_p.W554*|ALOX15B_uc010cnp.2_Nonsense_Mutation_p.W372*	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	566	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1						TCCTGTGCTTGGATGCCCAAC	0.632		NA											17	56					0	0	0	0
TOP3A	7156	broad.mit.edu	37	17	18198059	18198059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:18198059G>A	uc002gsx.1	-	10	1260	c.1031C>T	c.(1030-1032)GCT>GTT	p.A344V	TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.A242V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	344					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GGTTTCTTTAGCATTTATTCT	0.423		NA											13	48					0	0	0	0
KRT36	8689	broad.mit.edu	37	17	39643859	39643859	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:39643859C>T	uc002hwt.2	-	4	830	c.830G>A	c.(829-831)CGC>CAC	p.R277H		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	277	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				CACATCTCTGCGGTTATTCTC	0.592		NA											31	85					0	0	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220126	79220126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:79220126C>T	uc002jzz.1	-	16	2965	c.2590G>A	c.(2590-2592)GCC>ACC	p.A864T	SLC38A10_uc002jzy.1_Missense_Mutation_p.A782T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	864					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTTCCCTGGCGGGGTCTGGC	0.657		NA											21	61					0	0	0	0
KDM4B	23030	broad.mit.edu	37	19	5151410	5151410	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:5151410G>A	uc002mbq.3	+	23	3405	c.3179G>A	c.(3178-3180)CGC>CAC	p.R1060H	KDM4B_uc010xim.1_Missense_Mutation_p.R1094H|KDM4B_uc002mbr.3_Missense_Mutation_p.R818H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	1060					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						GCCGCCAAGCGCCCGCGTGTG	0.721		NA											4	5					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9048094	9048094	+	Silent	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:9048094G>T	uc002mkp.2	-	5	33741	c.33537C>A	c.(33535-33537)ACC>ACA	p.T11179T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11181	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGAAGTTGTGGTCTCTGGTT	0.463		NA											9	34					0.000274275	0.000327324	1	0
LPPR2	64748	broad.mit.edu	37	19	11470367	11470367	+	Missense_Mutation	SNP	G	G	A	rs142818555		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:11470367G>A	uc002mre.1	+	4	563	c.226G>A	c.(226-228)GCA>ACA	p.A76T	LPPR2_uc002mrf.1_Missense_Mutation_p.A51T|LPPR2_uc010dxy.1_5'Flank	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	76	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						TCTTGTCTACGCACTGGTCAC	0.637		NA											10	38					0	0	0	0
DCAF15	90379	broad.mit.edu	37	19	14069867	14069867	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:14069867T>C	uc002mxt.2	+	7	801	c.795T>C	c.(793-795)AGT>AGC	p.S265S	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	265										central_nervous_system(1)	1						GTGACAGGAGTTTCTGCCAAA	0.622		NA											50	68					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284919	15284919	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:15284919C>T	uc002nan.2	-	25	4772	c.4696G>A	c.(4696-4698)GAA>AAA	p.E1566K		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1566	Extracellular (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCGGGGTTCGGAGCCAGGA	0.692		NA											11	35					0	0	0	0
GALP	85569	broad.mit.edu	37	19	56693617	56693617	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:56693617C>T	uc002qmo.1	+	4	295	c.213C>T	c.(211-213)GCC>GCT	p.A71A	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	71					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGTGGAAGGCCATCGGTGAGT	0.483		NA											14	18					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27800115	27800115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:27800115G>T	uc002rkz.3	+	1	727	c.676G>T	c.(676-678)GAG>TAG	p.E226*		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	226										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATTAACTCCAGAGAAAAGCTA	0.448		NA											22	48					6.33e-15	8.23e-15	1	0
PRKD3	23683	broad.mit.edu	37	2	37543567	37543567	+	Missense_Mutation	SNP	G	G	A	rs114047527		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:37543567G>A	uc002rqd.2	-	1	656	c.101C>T	c.(100-102)ACG>ATG	p.T34M	PRKD3_uc002rqf.1_Missense_Mutation_p.T34M	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	34					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AGAGAGTCCCGTCTTAGGACT	0.493		NA											26	56					0	0	0	0
GPR75	10936	broad.mit.edu	37	2	54081573	54081573	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54081573G>A	uc002rxo.3	-	2	592	c.321C>T	c.(319-321)TTC>TTT	p.F107F	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	107	Helical; Name=2; (Potential).|Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGCTGAGCTGAAGAATAACA	0.468		NA											4	72					0	0	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753667	54753667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54753667C>T	uc002rxu.2	+	2	361	c.112C>T	c.(112-114)CGG>TGG	p.R38W	SPTBN1_uc002rxv.1_Missense_Mutation_p.R38W|RPL23AP32_uc010yot.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	38	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CAGCTCTGCGCGGCTTTTTGA	0.527		NA											13	64					0	0	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:107049681T>C	uc010ywi.1	-	16	2323	c.2266A>G	c.(2266-2268)AAC>GAC	p.N756D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding			ovary(1)	1						TCACTATAGTTTTCGAGTTCC	0.373		NA											3	172					0	0	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:108625031G>T	uc002tdv.2	+	8	1282	c.1006G>T	c.(1006-1008)GGT>TGT	p.G336C	SLC5A7_uc010ywm.1_Missense_Mutation_p.G89C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G336C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G223C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	336	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443		NA											18	25					2.94e-08	3.71e-08	1	0
GPR39	2863	broad.mit.edu	37	2	133174856	133174856	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:133174856T>C	uc002ttl.2	+	1	710	c.241T>C	c.(241-243)TTG>CTG	p.L81L		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	81	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CTCGGACATCTTGGTGTTCCT	0.547		NA											3	113					0	0	0	0
LY75	4065	broad.mit.edu	37	2	160690588	160690588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160690588G>A	uc002ubc.3	-	27	3877	c.3808C>T	c.(3808-3810)CAG>TAG	p.Q1270*	LY75_uc002ubb.3_Nonsense_Mutation_p.Q1270*|LY75_uc010fos.2_Nonsense_Mutation_p.Q1270*	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1270	Extracellular (Potential).|C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ACTTCATCCTGTGTTGTTGCC	0.249		NA											16	32					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168107151	168107151	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:168107151A>T	uc002udx.2	+	8	9267	c.9249A>T	c.(9247-9249)CAA>CAT	p.Q3083H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2908H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2861H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2908					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TACAGCACCAAGTAGCAGCTC	0.353		NA											23	29					0	0	0	0
WIPF1	7456	broad.mit.edu	37	2	175446145	175446145	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:175446145A>C	uc002uiy.2	-	4	406	c.74T>G	c.(73-75)TTG>TGG	p.L25W	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.L25W|WIPF1_uc010fqt.1_Missense_Mutation_p.L25W|WIPF1_uc002ujc.1_Missense_Mutation_p.L25W|WIPF1_uc002uiz.2_Missense_Mutation_p.L25W|WIPF1_uc002ujb.1_Missense_Mutation_p.L25W|WIPF1_uc010zep.1_Missense_Mutation_p.L25W	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	25					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						TGTCTTATTCAAGGTAGGCTT	0.443		NA											45	156					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179400029	179400029	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179400029G>T	uc010zfg.1	-	307	93833	c.93609C>A	c.(93607-93609)AGC>AGA	p.S31203R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24898R|TTN_uc010zfi.1_Missense_Mutation_p.S24831R|TTN_uc010zfj.1_Missense_Mutation_p.S24706R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32130							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)			CTGAAGGCTTGCTCAGACCAA	0.423		NA											42	66					6.46e-13	8.36e-13	1	0
TTN	7273	broad.mit.edu	37	2	179596116	179596116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179596116C>T	uc010zfg.1	-	56	13869	c.13645G>A	c.(13645-13647)GAA>AAA	p.E4549K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1210K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5476							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)			TGCTTGACTTCAATGCCACTG	0.403		NA											9	175					0	0	0	0
COL3A1	1281	broad.mit.edu	37	2	189857641	189857641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:189857641G>T	uc002uqj.1	+	15	1142	c.1025G>T	c.(1024-1026)GGA>GTA	p.G342V	COL3A1_uc010frw.1_RNA	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	342	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAACTGCCGGATTCCCTGGA	0.393		NA											37	37					8.16e-20	1.07e-19	1	0
CPS1	1373	broad.mit.edu	37	2	211471497	211471497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:211471497C>T	uc002vee.3	+	18	2156	c.2024C>T	c.(2023-2025)GCC>GTC	p.A675V	CPS1_uc010fur.2_Missense_Mutation_p.A681V|CPS1_uc010fus.2_Missense_Mutation_p.A224V	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	675	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTCTCCAATGCCGAGTTTCAG	0.453		NA											19	20					0	0	0	0
OBSL1	23363	broad.mit.edu	37	2	220422982	220422982	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:220422982G>A	uc010fwk.2	-	10	3483	c.3426C>T	c.(3424-3426)CAC>CAT	p.H1142H	OBSL1_uc002vmh.1_Silent_p.H133H|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.H617H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667		NA											11	7					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8755221	8755221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:8755221C>T	uc002wnb.2	+	27	2969	c.2966C>T	c.(2965-2967)ACG>ATG	p.T989M	PLCB1_uc010zrb.1_Missense_Mutation_p.T888M|PLCB1_uc002wna.2_Missense_Mutation_p.T989M|PLCB1_uc002wnc.1_Missense_Mutation_p.T888M|PLCB1_uc002wnd.1_Missense_Mutation_p.T566M	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	989					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GGTTCATCAACGATTGAGCAA	0.463		NA											42	89					0	0	0	0
ACSS1	84532	broad.mit.edu	37	20	24994664	24994664	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:24994664G>A	uc002wub.2	-	9	2263	c.1385C>T	c.(1384-1386)GCG>GTG	p.A462V	ACSS1_uc002wuc.2_Missense_Mutation_p.A460V|ACSS1_uc010gdc.2_Missense_Mutation_p.A257V|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A379V	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	462					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTCCGCCCCTTCTTC	0.587		NA											8	18					0	0	0	0
ZNF831	128611	broad.mit.edu	37	20	57767141	57767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:57767141C>T	uc002yan.2	+	1	1067	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	356						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCGGAGCAGCCGCATGCGCCC	0.577		NA											23	16					0	0	0	0
CELSR1	9620	broad.mit.edu	37	22	46776786	46776786	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:46776786C>T	uc003bhw.1	-	22	7155	c.7155G>A	c.(7153-7155)CCG>CCA	p.P2385P	CELSR1_uc011arc.1_Silent_p.P706P	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2385	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCGGGAGCGGAGCCCCCT	0.627		NA											17	38					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716420	50716420	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:50716420T>C	uc003bkv.3	-	32	5016	c.4910A>G	c.(4909-4911)GAC>GGC	p.D1637G	PLXNB2_uc003bkt.1_Missense_Mutation_p.D429G|PLXNB2_uc003bku.1_Missense_Mutation_p.D622G	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1637	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)		GAAGAAGTTGTCCACAAACTG	0.657		NA											22	37					0	0	0	0
DOCK3	1795	broad.mit.edu	37	3	51349911	51349911	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:51349911G>T	uc011bds.1	+	30	3121	c.3098G>T	c.(3097-3099)TGG>TTG	p.W1033L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1033						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCTAGGTGTGGAATTCTTAC	0.373		NA											3	38					0.004672	0.00548534	1	0
NAALADL2	254827	broad.mit.edu	37	3	174974310	174974310	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:174974310G>A	uc003fit.2	+	4	1017	c.930G>A	c.(928-930)CTG>CTA	p.L310L	NAALADL2_uc003fiu.1_Silent_p.L303L|NAALADL2_uc010hwy.1_Silent_p.L132L|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	310	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATTGCCACTGCTTTATAAGG	0.358		NA											4	40					0	0	0	0
C4orf23	152992	broad.mit.edu	37	4	8456493	8456493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr4:8456493C>T	uc003glg.1	+	6	657	c.469C>T	c.(469-471)CGA>TGA	p.R157*	C4orf23_uc003glf.1_Nonsense_Mutation_p.R145*|C4orf23_uc003glh.1_5'UTR	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	386					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						GATTGATGTCCGAAGAAGAAA	0.393		NA											29	68					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13919309	13919309	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:13919309C>T	uc003jfd.2	-	7	993	c.951G>A	c.(949-951)GCG>GCA	p.A317A	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	317	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACTTGGCCGCCGCAAGCACTG	0.463		NA							Kartagener_syndrome				42	104					0	0	0	0
AFF4	27125	broad.mit.edu	37	5	132232472	132232472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:132232472G>C	uc003kyd.2	-	11	2258	c.1850C>G	c.(1849-1851)TCT>TGT	p.S617C	AFF4_uc011cxk.1_Missense_Mutation_p.S295C|AFF4_uc003kye.1_Missense_Mutation_p.S617C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	617					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAGACTTAGACTCCTTCTT	0.433		NA											36	26					0	0	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:140683343G>A	uc003ljf.2	-	1	270	c.90C>T	c.(88-90)TTC>TTT	p.F30F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	30	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597		NA											8	71					0	0	0	0
MFAP3	4238	broad.mit.edu	37	5	153432559	153432559	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:153432559C>T	uc003lvf.2	+	3	891	c.375C>T	c.(373-375)TTC>TTT	p.F125F	MFAP3_uc010jib.2_Silent_p.F125F|MFAP3_uc011ddb.1_5'UTR	NM_001135037	NP_001128509	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3 isoform 2	125	Ig-like C2-type.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATACCTGTTTCGTCACCTCTC	0.438		NA											44	44					0	0	0	0
NHP2	55651	broad.mit.edu	37	5	177577981	177577981	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:177577981C>A	uc003mir.2	-	3	387	c.244G>T	c.(244-246)GCA>TCA	p.A82S	NHP2_uc003mis.2_Intron	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	82					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						GTGTCTCCTGCCAAAACCATG	0.483		NA											16	137					2.32e-09	2.95e-09	1	0
NEDD9	4739	broad.mit.edu	37	6	11191251	11191251	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:11191251G>T	uc003mzv.2	-	5	1018	c.851C>A	c.(850-852)CCA>CAA	p.P284Q	NEDD9_uc010joz.2_Missense_Mutation_p.P284Q|NEDD9_uc003mzw.3_Missense_Mutation_p.P138Q	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	284					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGCAGCTCCTGGAATGTCACA	0.577		NA											12	51					4.38e-07	5.43e-07	1	0
DCDC2	51473	broad.mit.edu	37	6	24302242	24302242	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:24302242C>T	uc003ndx.2	-	3	681	c.379G>A	c.(379-381)GTG>ATG	p.V127M	DCDC2_uc003ndy.2_Missense_Mutation_p.V127M	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	127					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				CGAGCTGACACGTTGATCCTG	0.353		NA											22	43					0	0	0	0
DDR1	780	broad.mit.edu	37	6	30856982	30856982	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:30856982G>A	uc003nrr.2	+	5	451	c.192G>A	c.(190-192)TTG>TTA	p.L64L	DDR1_uc010jse.2_Silent_p.L64L|DDR1_uc003nrq.2_Silent_p.L64L|DDR1_uc003nrs.2_Silent_p.L64L|DDR1_uc003nrt.2_Silent_p.L64L|DDR1_uc011dms.1_Silent_p.L82L|DDR1_uc011dmt.1_Silent_p.L90L|DDR1_uc003nru.2_Silent_p.L64L|DDR1_uc011dmu.1_Silent_p.L64L|DDR1_uc003nrv.2_Silent_p.L64L|DDR1_uc003nrw.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	64	Extracellular (Potential).|F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CCCTCAGGTTGGAGAGCAGTG	0.602		NA											65	137					0	0	0	0
OOEP	441161	broad.mit.edu	37	6	74078519	74078519	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:74078519A>T	uc003pgu.3	-	3	438	c.438T>A	c.(436-438)GAT>GAA	p.D146E	OOEP_uc003pgv.3_Missense_Mutation_p.D91E	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	146						cytoplasm					0						AAGCAACAGGATCCTGGGGAG	0.423		NA											4	45					0	0	0	0
CARD11	84433	broad.mit.edu	37	7	2954903	2954903	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:2954903T>C	uc003smv.2	-	21	3211	c.2807A>G	c.(2806-2808)GAC>GGC	p.D936G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	936					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTGGTGGCGTCCAGCGAGGA	0.627		NA	Mis		DLBCL								3	171					0	0	0	0
STK31	56164	broad.mit.edu	37	7	23825153	23825153	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:23825153C>T	uc003sws.3	+	18	2272	c.2205C>T	c.(2203-2205)CCC>CCT	p.P735P	STK31_uc003swt.3_Silent_p.P712P|STK31_uc011jze.1_Silent_p.P735P|STK31_uc010kuq.2_Silent_p.P712P|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	735	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ATGCTGAGCCCATGAAGGAAC	0.423		NA											33	140					0	0	0	0
SFRP4	6424	broad.mit.edu	37	7	37955724	37955724	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:37955724G>T	uc003tfo.3	-	1	802	c.416C>A	c.(415-417)CCT>CAT	p.P139H		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	139	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						GATGGCTTCAGGCGAGATGCA	0.652		NA											71	59					1.75e-33	2.31e-33	1	0
LEP	3952	broad.mit.edu	37	7	127894691	127894691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:127894691A>G	uc003vml.2	+	3	436	c.379A>G	c.(379-381)ACC>GCC	p.T127A	LEP_uc003vmm.2_Missense_Mutation_p.T126A	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	127					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						TGGCCTGGAGACCTTGGACAG	0.607		NA											11	36					0	0	0	0
NRF1	4899	broad.mit.edu	37	7	129297406	129297406	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:129297406C>T	uc003voz.2	+	2	332	c.215C>T	c.(214-216)GCA>GTA	p.A72V	NRF1_uc003vpa.2_Missense_Mutation_p.A72V|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.A72V	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	72	Dimerization.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GCTCATCTGGCAGCTGCAGGT	0.338		NA											14	33					0	0	0	0
EPHA1	2041	broad.mit.edu	37	7	143098584	143098584	+	Missense_Mutation	SNP	C	C	T	rs144146635		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:143098584C>T	uc003wcz.2	-	3	352	c.265G>A	c.(265-267)GGG>AGG	p.G89R		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	89	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCCTCCTCCCCGCGGTAGATC	0.607		NA											82	112					0	0	0	0
ZNF212	7988	broad.mit.edu	37	7	148947811	148947811	+	Missense_Mutation	SNP	G	G	A	rs145118937	by1000genomes	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:148947811G>A	uc003wfp.2	+	3	550	c.454G>A	c.(454-456)GAG>AAG	p.E152K		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	152	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTGTTTCACCGAGCAGGAATG	0.498		NA											58	75					0	0	0	0
KCNH2	3757	broad.mit.edu	37	7	150649889	150649889	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:150649889C>T	uc003wic.2	-	6	1194	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H	KCNH2_uc003wib.2_Missense_Mutation_p.R54H|KCNH2_uc011kux.1_Missense_Mutation_p.R298H|KCNH2_uc003wid.2_Missense_Mutation_p.R54H|KCNH2_uc003wie.2_Missense_Mutation_p.R394H	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	394	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGGTGGATGCGCGGTGCCTG	0.647		NA											7	82					0	0	0	0
NOM1	64434	broad.mit.edu	37	7	156762310	156762310	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:156762310C>T	uc003wmy.2	+	11	2511	c.2496C>T	c.(2494-2496)CAC>CAT	p.H832H		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	832					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACAGGCCCACAGAAGCGCCG	0.507		NA											33	94					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61707620	61707620	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:61707620T>A	uc003xue.2	+	4	2649	c.2172T>A	c.(2170-2172)AAT>AAA	p.N724K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	724					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTCTGAAAATTCAGACTTAG	0.418		NA											40	89					0	0	0	0
TERF1	7013	broad.mit.edu	37	8	73921257	73921257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:73921257G>A	uc003xzd.2	+	1	161	c.136G>A	c.(136-138)GAG>AAG	p.E46K	TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.E46K	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	46	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			GGAACTGCTCGAGTGCCAGGT	0.587		NA											4	49					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:100147902C>T	uc003yiv.2	+	11	1615	c.1504C>T	c.(1504-1506)CGA>TGA	p.R502*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yit.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.R502*|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	502					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTTGATTACCGAAGCCCAGA	0.338		NA											16	37					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139890008	139890008	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:139890008G>A	uc003yvd.2	-	3	1090	c.643C>T	c.(643-645)CGC>TGC	p.R215C		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAAAGACGGCGCCGCAGCTTG	0.662		NA								HNSCC(7;0.00092)			17	30					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		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.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	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)			16	7					0	0	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692607	23692607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:23692607C>T	uc003zpu.2	-	7	1303	c.1028G>A	c.(1027-1029)GGA>GAA	p.G343E	ELAVL2_uc003zps.2_Missense_Mutation_p.G330E|ELAVL2_uc003zpt.2_Missense_Mutation_p.G330E|ELAVL2_uc003zpv.2_Missense_Mutation_p.G343E|ELAVL2_uc003zpw.2_Missense_Mutation_p.G330E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	343	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACTCTGTCTCCCAGACGGTA	0.408		NA											18	25					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32635310	32635310	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:32635310C>T	uc003zrg.1	-	1	358	c.268G>A	c.(268-270)GGC>AGC	p.G90S	uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	90					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGCACCGCCAGTCCCAGTC	0.488		NA											67	139					0	0	0	0
NPR2	4882	broad.mit.edu	37	9	35799694	35799694	+	Missense_Mutation	SNP	G	G	A	rs144940095		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:35799694G>A	uc003zyd.2	+	3	953	c.953G>A	c.(952-954)CGG>CAG	p.R318Q	NPR2_uc010mlb.2_Missense_Mutation_p.R318Q	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	318	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAAGAGCCCGGGAAGACTTT	0.527		NA											10	87					0	0	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522454	124522454	+	Silent	SNP	C	C	T	rs140379738		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:124522454C>T	uc004bln.2	+	6	891	c.822C>T	c.(820-822)GCC>GCT	p.A274A	DAB2IP_uc004blo.2_Silent_p.A178A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	302					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCTCGGTGGCCGGGCGGCAGT	0.637		NA											9	75					0	0	0	0
PKN3	29941	broad.mit.edu	37	9	131476379	131476379	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131476379C>T	uc004bvw.2	+	10	1684	c.1291C>T	c.(1291-1293)CGC>TGC	p.R431C	PKN3_uc010myh.2_Missense_Mutation_p.R431C|PKN3_uc011mbk.1_Translation_Start_Site	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	431					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GAGGCAGGAACGCATCTTCTC	0.627		NA											28	99					0	0	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678559	131678559	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131678559G>A	uc004bwl.3	+	4	2596	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	LRRC8A_uc010myp.2_Missense_Mutation_p.R781H|LRRC8A_uc010myq.2_Missense_Mutation_p.R781H	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	781					pre-B cell differentiation	integral to membrane					0						CTGCTCAAGCGCAGCGGCTTG	0.672		NA											20	38					0	0	0	0
PHYHD1	254295	broad.mit.edu	37	9	131696086	131696086	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131696086G>T	uc004bwo.2	+	5	1151	c.218G>T	c.(217-219)AGT>ATT	p.S73I	PHYHD1_uc004bwn.2_Missense_Mutation_p.S73I|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Missense_Mutation_p.S73I	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	73							metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCTTGAGCAGTGGTGACAAG	0.552		NA									OREG0003917	type=REGULATORY REGION|Gene=AK130919|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	64	91					5.11e-33	6.7e-33	1	0
NOTCH1	4851	broad.mit.edu	37	9	139405168	139405168	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:139405168A>T	uc004chz.2	-	17	2677	c.2677T>A	c.(2677-2679)TGC>AGC	p.C893S	NOTCH1_uc004cia.1_Missense_Mutation_p.C123S	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	893	Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGTGGCAGCGGTAGCCG	0.692		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			13	26					0	0	0	0
PASD1	139135	broad.mit.edu	37	X	150832808	150832808	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chrX:150832808C>T	uc004fev.3	+	11	1391	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	353						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCTGGCGCAAGTGCTC	0.552		NA											12	23					0	0	0	0
GALNTL4	374378	broad.mit.edu	37	11	11394162	11394163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:11394162_11394163insT	uc001mjo.2	-	6	1412_1413	c.991_992insA	c.(991-993)ATTfs	p.I331fs		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	331	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GAAGCAGCCAATGAGGGCAGGG	0.604		NA											13	38	---	---	---	---	NA	NA	NA	NA
OR6C74	254783	broad.mit.edu	37	12	55641374	55641375	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:55641374_55641375delCA	uc010spg.1	+	1	303_304	c.303_304delCA	c.(301-306)TTCACTfs	p.F101fs		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	101_102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AGCTGTTTTTCACTATTCTCTT	0.436		NA											48	209	---	---	---	---	NA	NA	NA	NA
PIBF1	10464	broad.mit.edu	37	13	73468075	73468076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:73468075_73468076insA	uc001vjc.2	+	11	1781_1782	c.1476_1477insA	c.(1474-1479)CAGAAAfs	p.Q492fs	PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Frame_Shift_Ins_p.Q492fs|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	492_493						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAATATCAGAAAAAATTGGA	0.332		NA											9	44	---	---	---	---	NA	NA	NA	NA
CACNB1	782	broad.mit.edu	37	17	37331582	37331584	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:37331582_37331584delTCT	uc002hrm.1	-	14	1812_1814	c.1659_1661delAGA	c.(1657-1662)GAAGAC>GAC	p.E553del	CACNB1_uc002hrl.1_In_Frame_Del_p.E325del	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	553					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TTCCTCATAGTCTTCTTCCTCGT	0.645		NA									OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	321	---	---	---	---	NA	NA	NA	NA
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:20405159_20405160insG	uc002rdo.1	-	2	391_392	c.92_93insC	c.(91-93)CCTfs	p.P31fs	SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	31	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55		NA											40	104	---	---	---	---	NA	NA	NA	NA
LY75	4065	broad.mit.edu	37	2	160708798	160708799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160708798_160708799insT	uc002ubc.3	-	21	2865_2866	c.2796_2797insA	c.(2794-2799)AAATATfs	p.K932fs	LY75_uc002ubb.3_Frame_Shift_Ins_p.K932fs|LY75_uc010fos.2_Frame_Shift_Ins_p.K932fs	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	932_933	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		GAAACATTATATTTTTCACAGA	0.366		NA											17	31	---	---	---	---	NA	NA	NA	NA
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608591	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:36608588_36608591delAGTC	uc003jkj.3	+	2	539_542	c.63_66delAGTC	c.(61-66)GGAGTCfs	p.G21fs	SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Frame_Shift_Del_p.G21fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	21_22	Cytoplasmic (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCCAGCAGGGAGTCCGTAAACGCA	0.446		NA											48	100	---	---	---	---	NA	NA	NA	NA
RAET1E	135250	broad.mit.edu	37	6	150209677	150209677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:150209677delT	uc003qnl.1	-	4	809	c.749delA	c.(748-750)AATfs	p.N250fs	uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Frame_Shift_Del_p.N214fs|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	250	Cytoplasmic (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTCACCATTTTGCCACCA	0.507		NA											40	60	---	---	---	---	NA	NA	NA	NA
TYW1	55253	broad.mit.edu	37	7	66703464	66703465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:66703464_66703465insG	uc003tvn.2	+	16	2296_2297	c.2147_2148insG	c.(2146-2148)AAGfs	p.K716fs	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Frame_Shift_Ins_p.K330fs|PMS2L4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	716					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTTGATCCCAAGGACACAAGAC	0.421		NA											12	39	---	---	---	---	NA	NA	NA	NA
SLC26A7	115111	broad.mit.edu	37	8	92365190	92365191	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:92365190_92365191insA	uc003yex.2	+	12	1558_1559	c.1280_1281insA	c.(1279-1281)TTAfs	p.L427fs	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Ins_p.L427fs|SLC26A7_uc003yfa.2_Frame_Shift_Ins_p.L427fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	427	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCGAGATTTAAAAAAATATT	0.327		NA											46	95	---	---	---	---	NA	NA	NA	NA