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
KIAA1522	57648	broad.mit.edu	37	1	33235551	33235551	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:33235551C>T	uc001bvv.2	+	6	730	c.594C>T	c.(592-594)CCC>CCT	p.P198P	KIAA1522_uc001bvu.1_Silent_p.P257P|KIAA1522_uc010ohm.1_Silent_p.P209P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	198											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCATCCCCACAGTGGACG	0.721		NA											13	14					0	0	0	0
NSUN4	387338	broad.mit.edu	37	1	46810800	46810800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:46810800C>T	uc001cpr.1	+	2	530	c.421C>T	c.(421-423)CGC>TGC	p.R141C	NSUN4_uc010omc.1_Missense_Mutation_p.R92C|NSUN4_uc009vyf.1_Silent_p.V41V|NSUN4_uc009vyg.1_Missense_Mutation_p.R92C|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_Intron	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	NOL1/NOP2/Sun domain family 4 protein	141							methyltransferase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGATATCAGTCGCTTCCCTCC	0.567		NA											16	55					0	0	0	0
EPHX4	253152	broad.mit.edu	37	1	92495663	92495663	+	Silent	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:92495663C>G	uc001don.2	+	1	131	c.27C>G	c.(25-27)CCC>CCG	p.P9P		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	9						integral to membrane	hydrolase activity			central_nervous_system(1)	1						ATTGCCTGCCCCGCCTGATGC	0.701		NA											9	7					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120467945	120467945	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:120467945C>T	uc001eik.2	-	25	4750	c.4494G>A	c.(4492-4494)GGG>GGA	p.G1498G		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1498	Negative regulatory region (NRR).|LNR 2.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCTGTTCCCCTGGCATT	0.498		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				27	466					0	0	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128284	150128284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:150128284G>T	uc001ett.2	+	3	480	c.202G>T	c.(202-204)GAG>TAG	p.E68*	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	68	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATATTCAAGAGGTATTTGA	0.438		NA											9	236					0.000673444	0.000705593	1	0
FLG	2312	broad.mit.edu	37	1	152281214	152281214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:152281214G>T	uc001ezu.1	-	3	6184	c.6148C>A	c.(6148-6150)CAT>AAT	p.H2050N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2050	Ser-rich.|Filaggrin 12.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTGAATGTCCCTCACTG	0.562		NA							Ichthyosis				30	859					1.08e-15	1.24e-15	1	0
RUSC1	23623	broad.mit.edu	37	1	155292476	155292476	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:155292476C>T	uc001fkj.2	+	2	1141	c.912C>T	c.(910-912)AGC>AGT	p.S304S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Silent_p.S304S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	304						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGACGTCAGCGAGGAGCCGG	0.557		NA											35	117					0	0	0	0
CD247	919	broad.mit.edu	37	1	167400951	167400951	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:167400951G>A	uc001gei.3	-	8	607	c.462C>T	c.(460-462)GAC>GAT	p.D154D	CD247_uc001gej.3_Silent_p.D153D	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	154	ITAM 3.|Cytoplasmic (Potential).				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			TGTGAAGGGCGTCGTAGGTGT	0.562		NA											8	211					0	0	0	0
SERPINC1	462	broad.mit.edu	37	1	173881055	173881055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:173881055G>T	uc001gjt.2	-	3	625	c.506C>A	c.(505-507)TCC>TAC	p.S169Y		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	169					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAACTTGGAGGATTTGTTGGC	0.423		NA											18	186					7.08e-05	7.51e-05	1	0
PRG4	10216	broad.mit.edu	37	1	186275519	186275519	+	Missense_Mutation	SNP	G	G	C	rs28698702		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:186275519G>C	uc001gru.3	+	7	719	c.668G>C	c.(667-669)GGA>GCA	p.G223A	PRG4_uc001grt.3_Missense_Mutation_p.G182A|PRG4_uc009wyl.2_Missense_Mutation_p.G130A|PRG4_uc009wym.2_Missense_Mutation_p.G89A|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	223					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GATGAAGCTGGAAGTGGATTG	0.393		NA											57	206					0	0	0	0
CFH	3075	broad.mit.edu	37	1	196642255	196642255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:196642255G>T	uc001gtj.3	+	2	446	c.206G>T	c.(205-207)GGA>GTA	p.G69V	CFH_uc001gti.3_Missense_Mutation_p.G69V|CFH_uc009wyw.2_Missense_Mutation_p.G69V|CFH_uc009wyx.2_Missense_Mutation_p.G69V	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	69	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGCAGGAAGGGAGAATGGGTT	0.363		NA											69	44					2.73e-36	3.23e-36	1	0
AVPR1B	553	broad.mit.edu	37	1	206224960	206224960	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:206224960C>T	uc001hds.2	+	1	678	c.520C>T	c.(520-522)CTG>TTG	p.L174L		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	174	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATTTTTTCCCTGCGGGAGGT	0.647		NA											14	107					0	0	0	0
PGBD5	79605	broad.mit.edu	37	1	230468601	230468601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:230468601G>A	uc010pwb.1	-	5	1055	c.1055C>T	c.(1054-1056)CCG>CTG	p.P352L	PGBD5_uc001htv.2_Missense_Mutation_p.P451L	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCTGCACCGGGGAGTAGGC	0.627		NA											33	63					0	0	0	0
PGBD2	267002	broad.mit.edu	37	1	249211729	249211729	+	Missense_Mutation	SNP	C	C	G	rs75935520		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:249211729C>G	uc001ifh.2	+	3	1093	c.946C>G	c.(946-948)CTG>GTG	p.L316V	PGBD2_uc001ifg.2_Missense_Mutation_p.L65V|PGBD2_uc009xhd.2_Missense_Mutation_p.L313V	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	316										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGGGCACACTGTTTACCAA	0.512		NA											82	33					0	0	0	0
LARP4B	23185	broad.mit.edu	37	10	931622	931622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:931622G>A	uc001ifs.1	-	1	81	c.40C>T	c.(40-42)CAG>TAG	p.Q14*		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	14							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						CTCTGCGTCTGCGGTTCAGCC	0.512		NA											26	45					0	0	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280093	18280093	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:18280093A>T	uc001ipo.2	+	8	1556	c.1283A>T	c.(1282-1284)CAT>CTT	p.H428L	SLC39A12_uc001ipn.2_Missense_Mutation_p.H428L|SLC39A12_uc001ipp.2_Missense_Mutation_p.H428L|SLC39A12_uc010qck.1_Missense_Mutation_p.H294L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	428	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CTTGGTTTACATAAGCAGGAA	0.373		NA											11	42					0	0	0	0
OR13A1	79290	broad.mit.edu	37	10	45799805	45799805	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:45799805A>G	uc001jcc.1	-	4	375	c.66T>C	c.(64-66)AGT>AGC	p.S22S	OR13A1_uc001jcd.1_Silent_p.S18S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACGTCTGGTTACTCATCATCC	0.502		NA											23	60					0	0	0	0
TMEM26	219623	broad.mit.edu	37	10	63170317	63170317	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:63170317G>A	uc001jlo.2	-	6	1239	c.870C>T	c.(868-870)GCC>GCT	p.A290A	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290	Helical; (Potential).					integral to membrane					0	Prostate(12;0.0112)					AGTTCTTCGCGGCAAAGAACA	0.507		NA											3	46					0	0	0	0
RTKN2	219790	broad.mit.edu	37	10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:64022543C>T	uc001jlw.2	-	2	195	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	ZNF365_uc001jly.3_Intron|RTKN2_uc001jlx.2_Missense_Mutation_p.R33Q	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTCTCGCATTCGAATTTCTAA	0.333		NA											7	26					0	0	0	0
CDH23	64072	broad.mit.edu	37	10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:73545397G>A	uc001jrx.3	+	42	6099	c.5722G>A	c.(5722-5724)GTC>ATC	p.V1908I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1908	Cadherin 18.|Extracellular (Potential).		V -> I.		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GACAGGGATCGTCACTGTGAA	0.582		NA											3	4					0	0	0	0
C10orf12	26148	broad.mit.edu	37	10	98742657	98742657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:98742657G>A	uc001kmv.2	+	1	1617	c.1510G>A	c.(1510-1512)GAT>AAT	p.D504N		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	504										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398		NA											32	62					0	0	0	0
DHDPSL	112817	broad.mit.edu	37	10	99371333	99371333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:99371333C>T	uc001kny.2	+	7	1260	c.901C>T	c.(901-903)CCC>TCC	p.P301S	DHDPSL_uc001knz.2_Missense_Mutation_p.P138S|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	301					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						CTATGGAGGCCCCTGCCGCGC	0.612		NA											17	31					0	0	0	0
CHST15	51363	broad.mit.edu	37	10	125771991	125771991	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:125771991C>G	uc001lhl.2	-	6	1866	c.1353G>C	c.(1351-1353)AGG>AGC	p.R451S	CHST15_uc001lhm.2_Missense_Mutation_p.R451S|CHST15_uc001lhn.2_Missense_Mutation_p.R451S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	451	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CAACCTGGAGCCTCACCTAGG	0.493		NA											8	18					0	0	0	0
OR51I1	390063	broad.mit.edu	37	11	5462252	5462252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5462252C>T	uc010qze.1	-	1	493	c.493G>A	c.(493-495)GTG>ATG	p.V165M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCGTTTCACCACAAAAGGG	0.458		NA											3	49					0	0	0	0
OR52N1	79473	broad.mit.edu	37	11	5809550	5809550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5809550T>C	uc010qzo.1	-	1	497	c.497A>G	c.(496-498)AAG>AGG	p.K166R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGAAGGCGCTTGGTGAGGAA	0.488		NA											15	32					0	0	0	0
DKK3	27122	broad.mit.edu	37	11	12030045	12030045	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:12030045A>T	uc001mju.2	-	1	142	c.85T>A	c.(85-87)TCG>ACG	p.S29T	DKK3_uc010rcf.1_Missense_Mutation_p.S29T|DKK3_uc001mjv.2_Missense_Mutation_p.S29T|DKK3_uc001mjw.2_Missense_Mutation_p.S29T|DKK3_uc010rcg.1_Missense_Mutation_p.S29T|DKK3_uc001mjx.2_Missense_Mutation_p.S29T	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	29	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		ACTGGAGCCGAGGTCGCCGTC	0.716		NA											3	13					0	0	0	0
COPB1	1315	broad.mit.edu	37	11	14504607	14504607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:14504607C>G	uc001mli.2	-	8	1235	c.928G>C	c.(928-930)GAG>CAG	p.E310Q	COPB1_uc001mlg.2_Missense_Mutation_p.E310Q|COPB1_uc001mlh.2_Missense_Mutation_p.E310Q	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	310	HEAT 4.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GCAGGATGCTCTTTTAATTCT	0.333		NA											27	5					0	0	0	0
EXT2	2132	broad.mit.edu	37	11	44146485	44146485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:44146485G>A	uc001mxz.2	+	5	1224	c.890G>A	c.(889-891)CGT>CAT	p.R297H	EXT2_uc010rfo.1_Missense_Mutation_p.R325H|EXT2_uc001mxy.2_Missense_Mutation_p.R310H|EXT2_uc009ykt.2_Missense_Mutation_p.R297H|EXT2_uc001mya.2_Missense_Mutation_p.R330H	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	297	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CTTTCTGTCCGTAAGCGCTGC	0.502		NA	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				19	75					0	0	0	0
NXF1	10482	broad.mit.edu	37	11	62571396	62571396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:62571396G>A	uc001nvf.1	-	2	219	c.83C>T	c.(82-84)CCC>CTC	p.P28L	NXF1_uc001nvg.1_Missense_Mutation_p.P28L|NXF1_uc009yog.1_Missense_Mutation_p.P71L|NXF1_uc010rmh.1_Intron	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	28	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						CCACCGGAAGGGACCCCGGCC	0.473		NA											96	183					0	0	0	0
RASGRP2	10235	broad.mit.edu	37	11	64510284	64510284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:64510284C>T	uc009ypu.2	-	2	282	c.55G>A	c.(55-57)GGG>AGG	p.G19R	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.G19R|RASGRP2_uc009ypw.2_Missense_Mutation_p.G19R|RASGRP2_uc001oaw.1_Silent_p.A321A	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	19	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						TCGATGCACCCGCGGAGCAGC	0.731		NA											3	9					0	0	0	0
RCE1	9986	broad.mit.edu	37	11	66612403	66612403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:66612403C>T	uc001ojk.1	+	5	559	c.515C>T	c.(514-516)CCG>CTG	p.P172L	RCE1_uc001ojl.1_Missense_Mutation_p.P68L	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	172					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						GTGATCGCCCCGCTGACAGAG	0.632		NA											21	10					0	0	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750656	76750656	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:76750656G>A	uc001oxw.2	+	2	149	c.61G>A	c.(61-63)GTG>ATG	p.V21M		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	21	Helical; Signal-anchor for type II membrane protein; (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						CCTGGTGGGCGTGAGTTTCTT	0.657		NA									OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	37					0	0	0	0
C1S	716	broad.mit.edu	37	12	7169971	7169971	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7169971G>A	uc001qsj.2	+	6	917	c.198G>A	c.(196-198)GCG>GCA	p.A66A	C1S_uc001qsk.2_Silent_p.A66A|C1S_uc001qsl.2_Silent_p.A66A|C1S_uc009zfr.2_Intron|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	66	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGAACTGTGCGTATGACTCAG	0.468		NA											37	151					0	0	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302138	7302138	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7302138G>T	uc001qsr.2	+	14	2372	c.2094G>T	c.(2092-2094)TCG>TCT	p.S698S	CLSTN3_uc001qss.2_Silent_p.S710S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	698	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CACGCATGTCGGATGAGATTG	0.577		NA											36	54					9.92e-30	1.17e-29	1	0
MFAP5	8076	broad.mit.edu	37	12	8800752	8800752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:8800752G>A	uc001qut.1	-	10	670	c.457C>T	c.(457-459)CGC>TGC	p.R153C	MFAP5_uc001qus.2_Missense_Mutation_p.R143C|MFAP5_uc009zge.1_Missense_Mutation_p.R128C	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	153						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					TAATTGGAGCGACGGAGTCTC	0.458		NA											27	56					0	0	0	0
C12orf68	387856	broad.mit.edu	37	12	48578417	48578417	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:48578417A>G	uc001rrj.2	+	1	1052	c.512A>G	c.(511-513)GAC>GGC	p.D171G		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	hypothetical protein LOC387856	171						cytoplasm				central_nervous_system(1)	1						CTTGGGGGGGACGGGCCACTT	0.587		NA											2	5					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49435964	49435964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49435964C>T	uc001rta.3	-	28	6017	c.6017G>A	c.(6016-6018)TGG>TAG	p.W2006*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2006					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATCCTTCTCCCAGCGCTGAAG	0.582		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			11	3					0	0	0	0
ATF7	11016	broad.mit.edu	37	12	53918430	53918430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:53918430C>A	uc001sdy.2	-	9	1097	c.1076G>T	c.(1075-1077)CGC>CTC	p.R359L	ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R348L|ATF7_uc010sol.1_Missense_Mutation_p.R327L	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	359	Basic motif.|Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TTGGCGGCAGCGGGAGGCTGC	0.607		NA											33	45					3.04e-20	3.54e-20	1	0
OR10A7	121364	broad.mit.edu	37	12	55615608	55615608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:55615608C>T	uc010spf.1	+	1	800	c.800C>T	c.(799-801)TCC>TTC	p.S267F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TCAAACCAGTCCCCTGAGAGC	0.507		NA											15	76					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221350	56221350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56221350G>A	uc001shx.1	-	2	1297	c.1093C>T	c.(1093-1095)CTC>TTC	p.L365F	DNAJC14_uc001shu.1_Missense_Mutation_p.L365F|DNAJC14_uc009zob.1_Missense_Mutation_p.L365F|DNAJC14_uc001shy.1_Missense_Mutation_p.L365F	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	365					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CAAGAGAAGAGCCAGGTAGCC	0.567		NA											22	70					0	0	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815168	56815168	+	Silent	SNP	C	C	T	rs113553695		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56815168C>T	uc001slf.2	-	23	3003	c.2835G>A	c.(2833-2835)AAG>AAA	p.K945K		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	945					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TCTGCCGTTTCTTGTACAGCT	0.527		NA											75	66					0	0	0	0
TMEM194A	23306	broad.mit.edu	37	12	57454716	57454716	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:57454716C>T	uc001smy.2	-	8	1039	c.993G>A	c.(991-993)AAG>AAA	p.K331K	TMEM194A_uc001smx.2_Silent_p.K258K|TMEM194A_uc010sra.1_Silent_p.K72K	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	331						integral to membrane					0						TTTCTGCTCCCTTACACACCT	0.438		NA											29	76					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83324299	83324299	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:83324299A>G	uc001szt.2	+	4	2005	c.1573A>G	c.(1573-1575)AAC>GAC	p.N525D	TMTC2_uc001szr.1_Missense_Mutation_p.N525D|TMTC2_uc001szs.1_Missense_Mutation_p.N525D|TMTC2_uc010suk.1_Missense_Mutation_p.N280D	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	525	TPR 2.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CTACCGCAGCAACATGGCTGA	0.433		NA											9	43					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39265184	39265184	+	Missense_Mutation	SNP	C	C	A	rs151214132		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:39265184C>A	uc001uwv.2	+	1	4012	c.3703C>A	c.(3703-3705)CAT>AAT	p.H1235N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1235	CSPG 8.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCCCCACTCATGGTCACAT	0.428		NA											58	258					2.12e-23	2.48e-23	1	0
GPC5	2262	broad.mit.edu	37	13	92380812	92380812	+	Silent	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:92380812A>T	uc010tif.1	+	4	1413	c.1047A>T	c.(1045-1047)GTA>GTT	p.V349V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	349						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCGCCCTGTAAGAACACCCA	0.423		NA											14	126					0	0	0	0
UGGT2	55757	broad.mit.edu	37	13	96675306	96675306	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:96675306T>A	uc001vmt.2	-	4	643	c.473A>T	c.(472-474)AAA>ATA	p.K158I	UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.K158I|UGGT2_uc010afp.2_Missense_Mutation_p.K158I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	158					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TGAAGCAGCTTTCTTCAGCAG	0.323		NA											22	56					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33293503	33293503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:33293503G>A	uc001wrq.2	+	13	6654	c.6484G>A	c.(6484-6486)GGT>AGT	p.G2162S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2162					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGTGTTGAGGGTGACTCTGA	0.478		NA											30	17					0	0	0	0
C14orf37	145407	broad.mit.edu	37	14	58471868	58471868	+	Silent	SNP	T	T	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:58471868T>G	uc001xdc.2	-	7	2265	c.2154A>C	c.(2152-2154)GTA>GTC	p.V718V	C14orf37_uc010tro.1_Silent_p.V756V|C14orf37_uc001xdd.2_Silent_p.V718V	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	718	Helical; (Potential).					integral to membrane	binding				0						TCCCAACCCCTACAGGCACCA	0.488		NA											47	50					0	0	0	0
FCF1	51077	broad.mit.edu	37	14	75182665	75182665	+	Missense_Mutation	SNP	C	C	G	rs114572906	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:75182665C>G	uc001xqh.2	+	4	206	c.155C>G	c.(154-156)CCT>CGT	p.P52R	KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqf.1_Missense_Mutation_p.P37R|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	FCF1 small subunit	52					rRNA processing	nucleolus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCCCAACACCCTTCCTGCTTA	0.373		NA											12	178					0	0	0	0
KCNK13	56659	broad.mit.edu	37	14	90650616	90650616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:90650616C>T	uc001xye.1	+	2	938	c.496C>T	c.(496-498)CGG>TGG	p.R166W		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	166	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GCGGCAGCTCCGGAGACGAGG	0.612		NA											5	76					0	0	0	0
DICER1	23405	broad.mit.edu	37	14	95584087	95584087	+	Missense_Mutation	SNP	T	T	C	rs141163928		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:95584087T>C	uc001ydw.2	-	10	1563	c.1381A>G	c.(1381-1383)ATA>GTA	p.I461V	DICER1_uc001ydv.2_Missense_Mutation_p.I451V|DICER1_uc001ydx.2_Missense_Mutation_p.I461V	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	461	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTTCCTTTATCAATCTAAGA	0.348		NA	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				8	43					0	0	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063143	48063143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:48063143G>T	uc010bek.2	+	19	2743	c.2383G>T	c.(2383-2385)GCC>TCC	p.A795S	SEMA6D_uc001zvw.2_Missense_Mutation_p.A733S|SEMA6D_uc001zvy.2_Missense_Mutation_p.A795S|SEMA6D_uc001zvz.2_Missense_Mutation_p.A739S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.A733S|SEMA6D_uc001zwc.2_Missense_Mutation_p.A720S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	795	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCAGAAAAGGCCCATGGCCA	0.542		NA											24	53					5.45e-15	6.21e-15	1	0
TAOK2	9344	broad.mit.edu	37	16	29993064	29993064	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:29993064G>T	uc002dva.1	+	9	1521	c.738G>T	c.(736-738)CAG>CAT	p.Q246H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.Q246H|TAOK2_uc002dvc.1_Missense_Mutation_p.Q246H|TAOK2_uc010bzm.1_Missense_Mutation_p.Q246H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q73H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	246	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCGTGCTCCAGTCAGGACACT	0.542		NA											14	59					7.93e-07	8.61e-07	1	0
NOS2	4843	broad.mit.edu	37	17	26114800	26114800	+	Missense_Mutation	SNP	C	C	T	rs148763708	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:26114800C>T	uc002gzu.2	-	5	635	c.371G>A	c.(370-372)AGT>AAT	p.S124N	NOS2_uc010crh.1_Missense_Mutation_p.S124N|NOS2_uc010wab.1_Missense_Mutation_p.S124N	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	124					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCTGGTCAAACTTTTGGGAGT	0.498		NA											6	164					0	0	0	0
ABCA5	23461	broad.mit.edu	37	17	67302927	67302927	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:67302927C>T	uc002jif.2	-	5	1945	c.727G>A	c.(727-729)GAA>AAA	p.E243K	ABCA5_uc002jig.2_Missense_Mutation_p.E243K|ABCA5_uc002jih.2_Missense_Mutation_p.E243K|ABCA5_uc010dfe.2_Missense_Mutation_p.E243K	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	243					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TTTTCTTTTTCTGCTACGATA	0.249		NA											13	32					0	0	0	0
FAM104A	84923	broad.mit.edu	37	17	71223343	71223343	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:71223343A>G	uc002jji.3	-	2	370	c.282T>C	c.(280-282)AGT>AGC	p.S94S	FAM104A_uc002jjj.3_Silent_p.S94S	NM_032837	NP_116226	Q969W3	F104A_HUMAN	hypothetical protein LOC84923 isoform 2	94	Ser-rich.										0			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTTCTGCTACTTCTTTTGG	0.408		NA											20	103					0	0	0	0
LAMA1	284217	broad.mit.edu	37	18	6943269	6943269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:6943269C>A	uc002knm.2	-	62	9071	c.8977G>T	c.(8977-8979)GTT>TTT	p.V2993F	LAMA1_uc002knk.2_Missense_Mutation_p.V323F|LAMA1_uc002knl.2_Missense_Mutation_p.V446F|LAMA1_uc010wzj.1_Missense_Mutation_p.V2469F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2993	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCGTCAACAATCAGAGTG	0.488		NA											99	30					1.54e-31	1.82e-31	1	0
CDH20	28316	broad.mit.edu	37	18	59166671	59166671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:59166671G>A	uc010dps.1	+	2	511	c.499G>A	c.(499-501)GAC>AAC	p.D167N	CDH20_uc002lif.2_Missense_Mutation_p.D161N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	167	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CAAGTTCCTGGACGGACCTTA	0.483		NA											14	42					0	0	0	0
KCNG2	26251	broad.mit.edu	37	18	77659522	77659522	+	Silent	SNP	C	C	T	rs3744887		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:77659522C>T	uc010xfl.1	+	2	1107	c.1107C>T	c.(1105-1107)ACC>ACT	p.T369T		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	369	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCATGACCACCGTGGGCTACG	0.706		NA											25	15					0	0	0	0
DOT1L	84444	broad.mit.edu	37	19	2223362	2223362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:2223362A>G	uc002lvb.3	+	25	3509	c.3473A>G	c.(3472-3474)CAG>CGG	p.Q1158R	DOT1L_uc002lvc.1_Missense_Mutation_p.Q452R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1158						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCTACCAGGACCACGAC	0.622		NA											11	62					0	0	0	0
TICAM1	148022	broad.mit.edu	37	19	4816803	4816803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:4816803C>A	uc002mbi.2	-	2	1838	c.1587G>T	c.(1585-1587)AAG>AAT	p.K529N		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	529	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCTGTGGGGCTTGAAGGTGT	0.657		NA											13	23					7.93e-07	8.61e-07	1	0
FUT5	2527	broad.mit.edu	37	19	5867388	5867388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:5867388C>T	uc002mdo.3	-	2	437	c.349G>A	c.(349-351)GAC>AAC	p.D117N	FUT5_uc010duo.2_Missense_Mutation_p.D117N	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	117	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						ATGACCGCGTCTGCCTGTGGG	0.642		NA											21	38					0	0	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072831	15072831	+	Silent	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15072831C>A	uc002naa.1	-	5	926	c.918G>T	c.(916-918)CTG>CTT	p.L306L	SLC1A6_uc010dzu.1_Silent_p.L306L|SLC1A6_uc010xod.1_Silent_p.L242L|SLC1A6_uc002nab.2_Silent_p.L306L|SLC1A6_uc002nac.2_Silent_p.L306L	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	306	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	TGATGCCCACCAGCCTCATAA	0.572		NA											4	92					0.00909568	0.00938836	1	0
CYP4F12	66002	broad.mit.edu	37	19	15784508	15784508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15784508C>T	uc002nbl.2	+	2	230	c.169C>T	c.(169-171)CGG>TGG	p.R57W	CYP4F12_uc010xoo.1_Missense_Mutation_p.R57W|CYP4F12_uc010xop.1_Missense_Mutation_p.R57W	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					GCCCCCAAAACGGAACTGGTT	0.592		NA											6	123					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40408592	40408592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:40408592C>T	uc002omp.3	-	8	4255	c.4247G>A	c.(4246-4248)GGC>GAC	p.G1416D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1416	VWFD 3.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGAGTTGCCGAACTCATT	0.637		NA											70	35					0	0	0	0
RPL13A	23521	broad.mit.edu	37	19	49993179	49993179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:49993179G>A	uc002pny.2	+	2	110	c.88G>A	c.(88-90)GGC>AGC	p.G30S	RPL13A_uc002pnz.2_Intron|RPL13A_uc002poa.2_Nonsense_Mutation_p.W20*|SNORD32A_uc010emy.1_5'Flank|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTACTGCTGGGTAAGTCGCT	0.592		NA											38	100					0	0	0	0
SYT5	6861	broad.mit.edu	37	19	55687172	55687172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:55687172G>A	uc002qjm.1	-	4	1505	c.445C>T	c.(445-447)CGG>TGG	p.R149W	SYT5_uc002qjp.2_Missense_Mutation_p.R146W|SYT5_uc002qjn.1_Missense_Mutation_p.R149W|SYT5_uc002qjo.1_Missense_Mutation_p.R149W	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	149	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTAGACCCGCACATAGGGG	0.622		NA											27	82					0	0	0	0
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:56042631G>C	uc010ygc.1	-	2	335	c.335C>G	c.(334-336)TCG>TGG	p.S112W		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						CGCGCCCAGCGAGAGCCCCAC	0.667		NA											5	24					0	0	0	0
OSR1	130497	broad.mit.edu	37	2	19552911	19552911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:19552911C>T	uc002rdc.2	-	2	959	c.656G>A	c.(655-657)CGA>CAA	p.R219Q		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	219	C2H2-type 2.				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGTGGTCTCGCAGGTGGTC	0.597		NA											48	65					0	0	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927243	43927243	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:43927243C>T	uc010yny.1	+	8	1229	c.1146C>T	c.(1144-1146)TCC>TCT	p.S382S	PLEKHH2_uc002rte.3_Silent_p.S382S|PLEKHH2_uc002rtf.3_Silent_p.S381S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	382						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGATAGTTCCTCGGATGAAC	0.403		NA											51	63					0	0	0	0
ABCG8	64241	broad.mit.edu	37	2	44078781	44078781	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:44078781C>G	uc002rtq.2	+	4	471	c.381C>G	c.(379-381)ATC>ATG	p.I127M	ABCG8_uc010yoa.1_Missense_Mutation_p.I127M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	127	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGGCAAGATCAAGTCAGGCC	0.602		NA											42	48					0	0	0	0
ZNF514	84874	broad.mit.edu	37	2	95815442	95815442	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815442C>A	uc002sue.1	-	5	1162	c.788G>T	c.(787-789)AGT>ATT	p.S263I	ZNF514_uc002sud.1_Missense_Mutation_p.S336I	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	263	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCACATTCACTGCATTCATA	0.433		NA											26	115					3.01e-09	3.34e-09	1	0
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	G	C	rs140564139		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815453G>C	uc002sue.1	-	5	1151	c.777C>G	c.(775-777)CCC>CCG	p.P259P	ZNF514_uc002sud.1_Silent_p.P332P	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCATTCATAGGGCTTTTCTC	0.418		NA											30	130					0	0	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951598	130951598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:130951598C>T	uc002tqv.2	-	4	918	c.817G>A	c.(817-819)GCC>ACC	p.A273T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	273					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					ATGACTGGGGCGTAGGTGGCC	0.597		NA											32	199					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160204131	160204131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:160204131C>T	uc002uao.2	-	31	5672	c.5320G>A	c.(5320-5322)GAA>AAA	p.E1774K	BAZ2B_uc002uap.2_Missense_Mutation_p.E1738K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TGGTTTTCTTCATTTTCATTC	0.343		NA											14	33					0	0	0	0
TBR1	10716	broad.mit.edu	37	2	162274717	162274717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:162274717C>T	uc002ubw.1	+	3	1155	c.853C>T	c.(853-855)CGG>TGG	p.R285W	TBR1_uc010foy.2_5'UTR	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	285	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TCTAGGAAATCGGGTCTATAT	0.413		NA											19	28					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:178098962A>G	uc002ulh.3	-	2	638	c.83T>C	c.(82-84)ATA>ACA	p.I28T	NFE2L2_uc002ulg.3_Missense_Mutation_p.I12T|NFE2L2_uc010zfa.1_Missense_Mutation_p.I12T|NFE2L2_uc002uli.3_Missense_Mutation_p.I12T|NFE2L2_uc010fra.2_Missense_Mutation_p.I12T|NFE2L2_uc010frb.2_Missense_Mutation_p.I12T	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			19	14					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179463494	179463494	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179463494C>T	uc010zfg.1	-	240	49463	c.49239G>A	c.(49237-49239)GCG>GCA	p.A16413A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A10108A|TTN_uc010zfi.1_Silent_p.A10041A|TTN_uc010zfj.1_Silent_p.A9916A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17340							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)			CTCTAGCAGTCGCTGGGTCTG	0.418		NA											56	162					0	0	0	0
BARD1	580	broad.mit.edu	37	2	215645436	215645436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:215645436T>C	uc002veu.2	-	4	1297	c.1162A>G	c.(1162-1164)ATT>GTT	p.I388V	BARD1_uc010zjm.1_Missense_Mutation_p.I244V	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	388					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGACTAATGAATTCATCG	0.423		NA							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				6	114					0	0	0	0
PAX3	5077	broad.mit.edu	37	2	223161823	223161823	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:223161823G>T	uc010fwo.2	-	2	561	c.195C>A	c.(193-195)CAC>CAA	p.H65Q	PAX3_uc002vmt.1_Missense_Mutation_p.H65Q|PAX3_uc002vmy.1_Missense_Mutation_p.H65Q|PAX3_uc002vmv.1_Missense_Mutation_p.H65Q|PAX3_uc002vmw.1_Missense_Mutation_p.H65Q|PAX3_uc002vmx.1_Missense_Mutation_p.H65Q|PAX3_uc002vmz.1_Missense_Mutation_p.H65Q|PAX3_uc002vna.1_Missense_Mutation_p.H65Q|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	65	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGATGCCGTGGTGGGCCA	0.657		NA	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						15	7					4.75e-09	5.26e-09	1	0
PLCB1	23236	broad.mit.edu	37	20	8745992	8745992	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:8745992G>T	uc002wnb.2	+	26	2920	c.2917G>T	c.(2917-2919)GAC>TAC	p.D973Y	PLCB1_uc010zrb.1_Missense_Mutation_p.D872Y|PLCB1_uc002wna.2_Missense_Mutation_p.D973Y|PLCB1_uc002wnc.1_Missense_Mutation_p.D872Y|PLCB1_uc002wnd.1_Missense_Mutation_p.D550Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	973					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						CGCCAAAAAGGACAGTAAGAA	0.328		NA											31	27					7.64e-26	8.97e-26	1	0
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:23016973G>A	uc002wsr.2	+	1	917	c.853G>A	c.(853-855)GTG>ATG	p.V285M		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	285	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552		NA											42	127					0	0	0	0
TTLL9	164395	broad.mit.edu	37	20	30486334	30486334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:30486334C>T	uc010gdx.1	+	4	425	c.172C>T	c.(172-174)CTT>TTT	p.L58F	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.P67L|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	58	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGGACGTCCTTCGCCACAG	0.522		NA											24	45					0	0	0	0
C20orf186	149954	broad.mit.edu	37	20	31677343	31677343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:31677343G>C	uc010zue.1	+	7	1045	c.1030G>C	c.(1030-1032)GAC>CAC	p.D344H		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	344						cytoplasm|extracellular region	lipid binding				0						TCTTGTCAATGACCAGCTGGG	0.582		NA											54	66					0	0	0	0
ATP9A	10079	broad.mit.edu	37	20	50234077	50234077	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:50234077G>A	uc002xwg.1	-	22	2367	c.2367C>T	c.(2365-2367)GAC>GAT	p.D789D	ATP9A_uc010gih.1_Silent_p.D653D|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	789	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TCATGCTGACGTCATTGCCTC	0.498		NA											6	11					0	0	0	0
LIPI	149998	broad.mit.edu	37	21	15538694	15538694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr21:15538694G>C	uc002yjm.2	-	5	795	c.785C>G	c.(784-786)TCA>TGA	p.S262*	LIPI_uc010gkw.1_Intron	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	241					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGAAAATTGATTTAGGACA	0.358		NA											21	57					0	0	0	0
CECR2	27443	broad.mit.edu	37	22	18022469	18022469	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:18022469G>T	uc010gqw.1	+	15	2697	c.2571G>T	c.(2569-2571)ATG>ATT	p.M857I	CECR2_uc010gqv.1_Missense_Mutation_p.M716I|CECR2_uc002zml.2_Missense_Mutation_p.M716I	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	899					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GGGACTCCATGATGGACAGCC	0.637		NA											26	61					2.45e-14	2.77e-14	1	0
LZTR1	8216	broad.mit.edu	37	22	21349206	21349206	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:21349206G>A	uc002zto.2	+	16	1936	c.1833G>A	c.(1831-1833)GTG>GTA	p.V611V	LZTR1_uc002ztn.2_Silent_p.V570V|LZTR1_uc011ahy.1_Silent_p.V592V|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	611					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAACCAGGTGATCATGATGA	0.617		NA											51	108					0	0	0	0
SEPT3	55964	broad.mit.edu	37	22	42383247	42383247	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:42383247C>T	uc003bbr.3	+	4	507	c.369C>T	c.(367-369)GTC>GTT	p.V123V	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.V123V|SEPT3_uc010gyr.2_Silent_p.V59V|SEPT3_uc011apj.1_Silent_p.V59V|SEPT3_uc010gys.2_Intron	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	123					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						AGCTGACCGTCATCGACACCC	0.493		NA											22	54					0	0	0	0
GRAMD4	23151	broad.mit.edu	37	22	47054120	47054120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:47054120C>T	uc003bhx.2	+	3	359	c.320C>T	c.(319-321)GCG>GTG	p.A107V	GRAMD4_uc010had.2_Missense_Mutation_p.A46V	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	107	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAAACCAACGCGGAGATGCTG	0.657		NA											10	42					0	0	0	0
TTC21A	199223	broad.mit.edu	37	3	39170771	39170771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:39170771G>A	uc003cjc.2	+	15	2303	c.2126G>A	c.(2125-2127)AGA>AAA	p.R709K	TTC21A_uc003cje.2_Missense_Mutation_p.R710K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R661K	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	709							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGACCCTCAGAGACAGGCGC	0.522		NA											67	52					0	0	0	0
MAGI1	9223	broad.mit.edu	37	3	65376930	65376930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:65376930G>A	uc003dmn.2	-	14	2829	c.2303C>T	c.(2302-2304)CCC>CTC	p.P768L	MAGI1_uc003dmm.2_Missense_Mutation_p.P768L|MAGI1_uc003dmo.2_Missense_Mutation_p.P768L|MAGI1_uc003dmp.2_Missense_Mutation_p.P768L|MAGI1_uc010hnx.1_Missense_Mutation_p.P51L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	768					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGGAACTCGGGGAGCACCTG	0.547		NA											54	25					0	0	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672830	113672830	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:113672830C>T	uc003eau.2	+	3	744	c.445C>T	c.(445-447)CTG>TTG	p.L149L	ZDHHC23_uc003eav.2_Silent_p.L143L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	149	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						ACTGTTCTCTCTGGGCTACAT	0.522		NA											34	96					0	0	0	0
SHOX2	6474	broad.mit.edu	37	3	157820514	157820514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:157820514G>A	uc003fbr.2	-	2	647	c.508C>T	c.(508-510)CGA>TGA	p.R170*	SHOX2_uc003fbs.2_Nonsense_Mutation_p.R194*|SHOX2_uc010hvw.2_Nonsense_Mutation_p.R170*	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	170	Homeobox.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGTTCCTCTCGCATGAAGGCG	0.597		NA											23	246					0	0	0	0
SCHIP1	29970	broad.mit.edu	37	3	159605682	159605682	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:159605682C>T	uc003fcs.1	+	5	1248	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	SCHIP1_uc003fcq.1_Silent_p.P470P|SCHIP1_uc003fcr.1_Silent_p.P383P|SCHIP1_uc003fct.1_Silent_p.P381P|SCHIP1_uc010hvz.1_Silent_p.P354P|SCHIP1_uc003fcu.1_Silent_p.P151P|SCHIP1_uc003fcv.1_Silent_p.P167P	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	394						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			AAAAGTCTCCCGTCGCTGATC	0.458		NA											21	97					0	0	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169540507G>A	uc003fgb.2	+	1	798	c.798G>A	c.(796-798)GGG>GGA	p.G266G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266	LRR 11.										0						GGCTGAGCGGGAACCGCCTGG	0.612		NA											7	114					0	0	0	0
PHC3	80012	broad.mit.edu	37	3	169840414	169840414	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169840414C>G	uc010hws.1	-	9	1935	c.1871G>C	c.(1870-1872)AGA>ACA	p.R624T	PHC3_uc003fgl.2_Missense_Mutation_p.R636T|PHC3_uc011bpq.1_Missense_Mutation_p.R583T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	624	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTTCTCCTCTCCCCACTGT	0.398		NA											10	202					0	0	0	0
N4BP2	55728	broad.mit.edu	37	4	40122594	40122594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:40122594G>A	uc003guy.3	+	9	3201	c.2863G>A	c.(2863-2865)GAA>AAA	p.E955K	N4BP2_uc010ifq.2_Missense_Mutation_p.E875K|N4BP2_uc010ifr.2_Missense_Mutation_p.E875K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	955						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GCTGCTCAGTGAAATGACCTG	0.438		NA											28	36					0	0	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149358	73149358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:73149358G>A	uc003hgk.1	-	22	3150	c.3113C>T	c.(3112-3114)TCC>TTC	p.S1038F		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1038	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTGGTATGGAGCAGTATCG	0.418		NA											7	116					0	0	0	0
IL2	3558	broad.mit.edu	37	4	123377563	123377563	+	Silent	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:123377563T>C	uc003ier.2	-	1	88	c.33A>G	c.(31-33)GCA>GCG	p.A11A		NM_000586	NP_000577	P60568	IL2_HUMAN	interleukin 2 precursor	11					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			skin(1)	1				LUSC - Lung squamous cell carcinoma(721;0.185)		CAAGACTTAGTGCAATGCAAG	0.413		NA	T	TNFRSF17	intestinal T-cell lymphoma								39	22					0	0	0	0
F11	2160	broad.mit.edu	37	4	187205256	187205256	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:187205256C>T	uc003iza.1	+	11	1479	c.1146C>T	c.(1144-1146)ACC>ACT	p.T382T		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	382					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGTACCACCAAAATCAAGC	0.502		NA											32	27					0	0	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416215	1416215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:1416215G>T	uc003jck.2	-	7	1150	c.1029C>A	c.(1027-1029)TAC>TAA	p.Y343*		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	343					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCTCACCTGTAGCAGTTGT	0.587		NA											14	57					1.05e-09	1.17e-09	1	0
FAM173B	134145	broad.mit.edu	37	5	10239377	10239377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:10239377C>T	uc003jeo.2	-	2	137	c.108G>A	c.(106-108)TGG>TGA	p.W36*	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Nonsense_Mutation_p.W36*	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	36						integral to membrane				kidney(1)|central_nervous_system(1)	2						GTAAGAACCCCCAGTTGCTTT	0.478		NA											60	109					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:11364898C>T	uc003jfa.1	-	8	1427	c.1282G>A	c.(1282-1284)GTC>ATC	p.V428I	CTNND2_uc010itt.2_Missense_Mutation_p.V337I|CTNND2_uc011cmy.1_Missense_Mutation_p.V91I|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTCTGATAGACGCGGTCTTCA	0.617		NA											15	59					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13830755	13830755	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:13830755G>A	uc003jfd.2	-	36	6054	c.6012C>T	c.(6010-6012)TTC>TTT	p.F2004F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2004	AAA 1 (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)					CTGAACAATTGAAAACCACGA	0.473		NA							Kartagener_syndrome				19	104					0	0	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049095	36049095	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36049095A>G	uc003jjz.1	-	4	832	c.739T>C	c.(739-741)TGG>CGG	p.W247R	UGT3A2_uc011cos.1_Missense_Mutation_p.W213R|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	247	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATGAACCACAACTCTGCT	0.428		NA											66	77					0	0	0	0
LMBRD2	92255	broad.mit.edu	37	5	36111350	36111350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36111350G>A	uc003jkb.1	-	14	2066	c.1651C>T	c.(1651-1653)CGT>TGT	p.R551C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	551	Cytoplasmic (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAACAACGGGTTCCCAAA	0.313		NA											16	36					0	0	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176624	140176624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140176624C>T	uc003lhd.2	+	1	2181	c.2075C>T	c.(2074-2076)ACG>ATG	p.T692M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T692M|PCDHA2_uc011czy.1_Missense_Mutation_p.T692M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	692	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGCTACGCTGGTGGAT	0.647		NA											41	97					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215817	140215817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140215817G>A	uc003lhq.2	+	1	1849	c.1849G>A	c.(1849-1851)GGT>AGT	p.G617S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.G617S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCCGGTGCGAGCAT	0.642		NA											28	41					0	0	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431883	140431883	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140431883G>T	uc003lik.1	+	1	905	c.828G>T	c.(826-828)GCG>GCT	p.A276A		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	276	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACAAAGCGATAACTTACT	0.507		NA											7	31					0.00198382	0.00207331	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554402	140554402	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140554402G>T	uc003lit.2	+	1	2160	c.1986G>T	c.(1984-1986)CTG>CTT	p.L662L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	662	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.701		NA											15	54					1.34e-09	1.49e-09	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590512	140590512	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140590512C>T	uc003liz.2	+	1	2222	c.2033C>T	c.(2032-2034)CCG>CTG	p.P678L	PCDHB12_uc011dak.1_Missense_Mutation_p.P341L|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	678	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGCCCAGGCC	0.692		NA											11	148					0	0	0	0
C5orf40	408263	broad.mit.edu	37	5	156770492	156770492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:156770492G>T	uc003lwu.2	-	2	241	c.53C>A	c.(52-54)TCG>TAG	p.S18*	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	18	Fibronectin type-III.					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCGAGGACGACCAGGAGAT	0.498		NA											16	42					3.57e-18	4.14e-18	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849445	171849445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:171849445C>T	uc003mbr.2	-	2	302	c.131G>A	c.(130-132)CGC>CAC	p.R44H	SH3PXD2B_uc003mbs.1_Missense_Mutation_p.R44H	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	44	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGTAGCGCCGGTAAAT	0.517		NA											6	11					0	0	0	0
IRF4	3662	broad.mit.edu	37	6	407576	407576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:407576G>A	uc003msz.3	+	9	1447	c.1334G>A	c.(1333-1335)CGC>CAC	p.R445H	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.R444H	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	445					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGATCTATCCGCCATTCCTCT	0.279		NA	T	IGH@	MM 								21	49					0	0	0	0
F13A1	2162	broad.mit.edu	37	6	6266932	6266932	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:6266932G>T	uc003mwv.2	-	4	553	c.430C>A	c.(430-432)CGG>AGG	p.R144R	F13A1_uc011dib.1_Silent_p.R81R	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512		NA											20	43					3.99e-14	4.51e-14	1	0
DNAH8	1769	broad.mit.edu	37	6	38951989	38951989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:38951989C>T	uc003ooe.1	+	85	12908	c.12308C>T	c.(12307-12309)TCA>TTA	p.S4103L	DNAH8_uc003oog.1_Missense_Mutation_p.S552L	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGGGTGTATCATGGAATACG	0.373		NA											11	45					0	0	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:4901062C>T	uc003snk.2	-	1	564	c.380G>A	c.(379-381)CGA>CAA	p.R127Q	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438		NA											13	36					0	0	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:8790658G>A	uc003srv.2	+	3	986	c.75G>A	c.(73-75)ACG>ACA	p.T25T	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	25	II.					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423		NA											69	71					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21730399	21730399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:21730399G>A	uc003svc.2	+	36	5993	c.5962G>A	c.(5962-5964)GAA>AAA	p.E1988K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ATTTCTTGGGGAAGCTATCAC	0.363		NA							Kartagener_syndrome				48	194					0	0	0	0
TRA2A	29896	broad.mit.edu	37	7	23561437	23561437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:23561437G>T	uc003swi.2	-	2	273	c.59C>A	c.(58-60)TCT>TAT	p.S20Y	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	20					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCCCGTTGGAGATTTTGACTG	0.433		NA											17	89					5.39e-06	5.82e-06	1	0
ZNF713	349075	broad.mit.edu	37	7	56007358	56007358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56007358C>T	uc003trc.1	+	4	990	c.952C>T	c.(952-954)CAA>TAA	p.Q318*	ZNF713_uc003tra.1_Nonsense_Mutation_p.Q331*|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	318	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCTTTACTCAACATCTGAG	0.398		NA											39	147					0	0	0	0
CCT6A	908	broad.mit.edu	37	7	56120139	56120139	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56120139C>T	uc003trl.1	+	2	326	c.162C>T	c.(160-162)ATC>ATT	p.I54I	PSPH_uc003trh.2_5'Flank|PSPH_uc003tri.2_5'Flank|PSPH_uc003trj.2_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Silent_p.I54I|CCT6A_uc011kcu.1_Silent_p.I23I	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	54					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGAGACATCAAACTTACTA	0.423		NA											48	88					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63679804	63679804	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:63679804A>T	uc011kdn.1	+	4	375	c.375A>T	c.(373-375)TTA>TTT	p.L125F		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTACAATTAAAAAAATGTT	0.333		NA											29	44					0	0	0	0
ELN	2006	broad.mit.edu	37	7	73477973	73477973	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:73477973C>T	uc003tzw.2	+	29	2050	c.1959C>T	c.(1957-1959)CTC>CTT	p.L653L	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.L647L|ELN_uc003tzz.2_Silent_p.L566L|ELN_uc003tzo.2_Silent_p.L599L|ELN_uc003tzp.2_Silent_p.L558L|ELN_uc003tzq.2_Silent_p.L511L|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.L628L|ELN_uc003tzt.2_Silent_p.L652L|ELN_uc003tzu.2_Silent_p.L633L|ELN_uc003tzv.2_Silent_p.L618L|ELN_uc003tzx.2_Silent_p.L637L|ELN_uc011kff.1_Silent_p.L647L|ELN_uc003tzy.2_Silent_p.L623L	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	709	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCTGGGCTCGGAGGACTCG	0.597		NA	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						58	86					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620503	81620503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:81620503G>C	uc003uhr.1	-	21	2050	c.1794C>G	c.(1792-1794)TAC>TAG	p.Y598*		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	617	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAATTACCTGTAATCTGTGC	0.308		NA											17	32					0	0	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213555	108213555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:108213555C>T	uc003vfn.2	+	3	632	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						TTTCCAGACACGCCAGGATGG	0.348		NA											21	62					0	0	0	0
FEZF1	389549	broad.mit.edu	37	7	121943848	121943848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:121943848C>G	uc003vkd.2	-	1	718	c.644G>C	c.(643-645)GGA>GCA	p.G215A	FEZF1_uc003vkc.2_Missense_Mutation_p.G165A|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	215					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						GAAAGCTACTCCAGAAGGGTA	0.507		NA											23	55					0	0	0	0
SPAM1	6677	broad.mit.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:123593871G>A	uc003vld.2	+	4	649	c.247G>A	c.(247-249)GCC>ACC	p.A83T	SPAM1_uc003vle.2_Missense_Mutation_p.A83T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.A83T|SPAM1_uc010lku.2_Missense_Mutation_p.A83T	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	83					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CCGAATAAACGCCACCGGGCA	0.443		NA											26	33					0	0	0	0
ZNF800	168850	broad.mit.edu	37	7	127014179	127014179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:127014179G>C	uc003vlx.1	-	5	1474	c.1211C>G	c.(1210-1212)TCA>TGA	p.S404*	ZNF800_uc003vlw.1_Nonsense_Mutation_p.S307*|ZNF800_uc003vly.1_Nonsense_Mutation_p.S404*|ZNF800_uc010lla.2_Nonsense_Mutation_p.S404*	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTATTTCTGAACTGTTGGC	0.348		NA											30	64					0	0	0	0
WEE2	494551	broad.mit.edu	37	7	141418927	141418927	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141418927A>T	uc003vwn.2	+	4	1047	c.641A>T	c.(640-642)GAG>GTG	p.E214V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	214	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GAATTCTTGGAGGTTGAAAAA	0.353		NA											60	52					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141721402	141721402	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141721402A>C	uc003vwy.2	+	6	629	c.575A>C	c.(574-576)AAT>ACT	p.N192T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	192	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAAACCAATAACAGGTTT	0.433		NA											10	33					0	0	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174742	150174742	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:150174742G>T	uc003whj.2	+	5	2202	c.1872G>T	c.(1870-1872)CTG>CTT	p.L624L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	624	Potential.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCAATGATCTGAGAAAAGAAA	0.443		NA											25	103					2.45e-14	2.77e-14	1	0
TNKS	8658	broad.mit.edu	37	8	9588487	9588487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:9588487G>A	uc003wss.2	+	14	2094	c.2089G>A	c.(2089-2091)GTG>ATG	p.V697M	TNKS_uc011kww.1_Missense_Mutation_p.V460M|TNKS_uc010lrs.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	697	ANK 10.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CTACAACCGCGTGTCTGTTGT	0.502		NA											33	6					0	0	0	0
FDFT1	2222	broad.mit.edu	37	8	11660408	11660408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:11660408G>A	uc003wui.2	+	1	219	c.67G>A	c.(67-69)GGC>AGC	p.G23S	FDFT1_uc003wuh.2_Intron|FDFT1_uc010lsa.1_5'UTR|FDFT1_uc011kxe.1_5'UTR|FDFT1_uc011kxf.1_Missense_Mutation_p.G23S|FDFT1_uc011kxg.1_Missense_Mutation_p.G18E|FDFT1_uc003wuj.2_Missense_Mutation_p.G23S|FDFT1_uc010lsb.2_5'Flank|FDFT1_uc011kxh.1_5'Flank|FDFT1_uc011kxi.1_5'Flank	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	23					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGGATCGGGGGCAAGCGGAA	0.692		NA											4	15					0	0	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864371	22864371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:22864371C>T	uc003xcq.2	+	5	1150	c.613C>T	c.(613-615)CGA>TGA	p.R205*	RHOBTB2_uc003xcp.2_Nonsense_Mutation_p.R227*|RHOBTB2_uc011kzp.1_Nonsense_Mutation_p.R212*|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	205	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACGCCATCCGAGCTGCACT	0.632		NA											29	56					0	0	0	0
LETM2	137994	broad.mit.edu	37	8	38264944	38264944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:38264944C>A	uc003xlm.1	+	10	1406	c.1235C>A	c.(1234-1236)TCA>TAA	p.S412*	LETM2_uc003xll.1_Nonsense_Mutation_p.S364*|LETM2_uc003xln.1_Nonsense_Mutation_p.S256*|LETM2_uc003xlo.1_Nonsense_Mutation_p.S256*	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	459	Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ACACCTATTTCATTACCTAAA	0.378		NA											30	89					3.17e-13	3.57e-13	1	0
PXDNL	137902	broad.mit.edu	37	8	52321226	52321226	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:52321226G>A	uc003xqu.3	-	17	3059	c.2958C>T	c.(2956-2958)TCC>TCT	p.S986S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	986					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTTCAGGGCGGACAGCTCCG	0.642		NA											4	5					0	0	0	0
TOX	9760	broad.mit.edu	37	8	59764139	59764139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:59764139C>T	uc003xtw.1	-	4	858	c.637G>A	c.(637-639)GCA>ACA	p.A213T		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	213						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAAGGAGTTGCAGACTTGCTT	0.438		NA											15	79					0	0	0	0
KCNB2	9312	broad.mit.edu	37	8	73849229	73849229	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:73849229A>G	uc003xzb.2	+	3	2227	c.1639A>G	c.(1639-1641)ATC>GTC	p.I547V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	547	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ATACAATGAAATCACCAAGAC	0.488		NA											23	88					0	0	0	0
FAM164A	51101	broad.mit.edu	37	8	79588079	79588079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:79588079C>A	uc003ybd.2	+	2	176	c.74C>A	c.(73-75)ACA>AAA	p.T25K		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	25										ovary(1)	1						TGTGGAAGAACATTCTTTCCA	0.323		NA											35	147					5.45e-19	6.33e-19	1	0
CNGB3	54714	broad.mit.edu	37	8	87660048	87660048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:87660048C>G	uc003ydx.2	-	8	1017	c.971G>C	c.(970-972)AGA>ACA	p.R324T	CNGB3_uc010maj.2_Missense_Mutation_p.R186T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CCTATTTGCTCTAAACATTGG	0.294		NA											26	114					0	0	0	0
IFNK	56832	broad.mit.edu	37	9	27524569	27524569	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:27524569A>G	uc003zqp.2	+	1	258	c.235A>G	c.(235-237)ATG>GTG	p.M79V	MOBKL2B_uc003zqn.2_Intron	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	interferon kappa precursor	79					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CACCCAACCTATGAAGAGGGA	0.423		NA											32	82					0	0	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532547	71532547	+	Silent	SNP	G	G	A	rs61752951	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:71532547G>A	uc004agu.2	+	9	1160	c.855G>A	c.(853-855)GAG>GAA	p.E285E	PIP5K1B_uc011lrq.1_Silent_p.E285E|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	285	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		AGAAAGAGGAGGAGACCCCAC	0.463		NA											10	215					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:73151427G>A	uc004aid.2	-	25	4810	c.4566C>T	c.(4564-4566)AGC>AGT	p.S1522S	TRPM3_uc004ahu.2_Silent_p.S1364S|TRPM3_uc004ahv.2_Silent_p.S1324S|TRPM3_uc004ahw.2_Silent_p.S1394S|TRPM3_uc004ahx.2_Silent_p.S1381S|TRPM3_uc004ahy.2_Silent_p.S1384S|TRPM3_uc004ahz.2_Silent_p.S1371S|TRPM3_uc004aia.2_Silent_p.S1369S|TRPM3_uc004aib.2_Silent_p.S1359S|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1547	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AAAACATAAAGCTATGAGATT	0.458		NA											59	30					0	0	0	0
ZNF484	83744	broad.mit.edu	37	9	95609196	95609196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:95609196C>T	uc004asu.1	-	5	2022	c.1873G>A	c.(1873-1875)GTA>ATA	p.V625I	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.V627I|ZNF484_uc010mrb.1_Missense_Mutation_p.V589I|ZNF484_uc004asv.1_Missense_Mutation_p.V589I	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	625	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCTGATGTACGTGGAGCTGT	0.393		NA											25	41					0	0	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473675	134473675	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:134473675G>C	uc004cbc.2	-	13	2096	c.1966C>G	c.(1966-1968)CTG>GTG	p.L656V	RAPGEF1_uc004cbb.2_Missense_Mutation_p.L674V|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.L831V|RAPGEF1_uc004cbd.2_Missense_Mutation_p.L661V|RAPGEF1_uc010mzs.1_Missense_Mutation_p.L188V|RAPGEF1_uc010mzl.1_Missense_Mutation_p.L154V|RAPGEF1_uc010mzo.1_3'UTR|RAPGEF1_uc010mzp.1_Missense_Mutation_p.L133V|RAPGEF1_uc010mzq.1_Missense_Mutation_p.L240V|RAPGEF1_uc010mzr.1_Missense_Mutation_p.L241V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	656					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCGACTCCAGAGCATCTGGT	0.582		NA											10	16					0	0	0	0
GLRA2	2742	broad.mit.edu	37	X	14748410	14748410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:14748410G>A	uc010nep.2	+	10	1494	c.1162G>A	c.(1162-1164)GCT>ACT	p.A388T	GLRA2_uc010neq.2_Missense_Mutation_p.A388T|GLRA2_uc004cwe.3_Missense_Mutation_p.A388T|GLRA2_uc011mio.1_Missense_Mutation_p.A299T|GLRA2_uc011mip.1_Missense_Mutation_p.A366T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	388	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGGAACAGCTGTCAAGGC	0.473		NA											7	172					0	0	0	0
ASB9	140462	broad.mit.edu	37	X	15270437	15270437	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:15270437G>A	uc004cwl.2	-	4	619	c.372C>T	c.(370-372)CAC>CAT	p.H124H	ASB9_uc004cwk.2_Silent_p.H124H|ASB9_uc004cwm.2_Silent_p.H124H|ASB9_uc010ner.2_Silent_p.H124H|ASB9_uc004cwn.2_Silent_p.H95H	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	124	ANK 3.				intracellular signal transduction						0	Hepatocellular(33;0.183)					CGCTGGCTCCGTGCTGCAGAA	0.478		NA											46	13					0	0	0	0
KCNA3	3738	broad.mit.edu	37	1	111216794	111216794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:111216794delC	uc001dzv.1	-	1	862	c.638delG	c.(637-639)CGCfs	p.R213fs		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	213						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGTCGCGGCGGGGCAAGGG	0.682		NA											38	30	---	---	---	---	NA	NA	NA	NA
POLA2	23649	broad.mit.edu	37	11	65064593	65064608	+	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TGTCCTCGGCTGTGTC	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	uc001odj.2	+	18	1992_2007	c.1650_1665delTGTCCTCGGCTGTGTC	c.(1648-1665)GATGTCCTCGGCTGTGTCfs	p.D550fs	POLA2_uc001odk.2_Frame_Shift_Del_p.D247fs	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	550_555					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC	0.602		NA											14	103	---	---	---	---	NA	NA	NA	NA
KCNH3	23416	broad.mit.edu	37	12	49950962	49950966	+	Splice_Site	DEL	ACAGA	ACAGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49950962_49950966delACAGA	uc001ruh.1	+	14	2836	c.2576_splice	c.e14-1	p.E859_splice	KCNH3_uc010smj.1_Splice_Site_p.E799_splice	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H						regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CCTACTACCCACAGAGAGCGGCCTG	0.595		NA											16	48	---	---	---	---	NA	NA	NA	NA
SNAPC1	6617	broad.mit.edu	37	14	62233670	62233672	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:62233670_62233672delCCA	uc001xft.2	+	2	309_311	c.205_207delCCA	c.(205-207)CCAdel	p.P69del		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTTACCTCCATACACCTTCC	0.33		NA											18	33	---	---	---	---	NA	NA	NA	NA
EFTUD1	79631	broad.mit.edu	37	15	82456255	82456259	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:82456255_82456259delAAATG	uc002bgt.1	-	16	1986_1990	c.1817_1821delCATTT	c.(1816-1821)CCATTTfs	p.P606fs	EFTUD1_uc002bgu.1_Frame_Shift_Del_p.P555fs	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	606_607					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TGAGTGGTATAAATGGTGGGCAGGA	0.4		NA											14	39	---	---	---	---	NA	NA	NA	NA
ZFPM1	161882	broad.mit.edu	37	16	88598407	88598408	+	Splice_Site	INS	-	-	AGAAG			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:88598407_88598408insAGAAG	uc002fkv.2	+	7	746	c.713_splice	c.e7-2	p.K238_splice		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1						blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCCACCCCACAGAAGACGTCT	0.698		NA											10	73	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7579336	7579336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:7579336delC	uc002gim.2	-	4	545	c.351delG	c.(349-351)GGGfs	p.G117fs	TP53_uc002gig.1_Frame_Shift_Del_p.G117fs|TP53_uc002gih.2_Frame_Shift_Del_p.G117fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.G117fs|TP53_uc010cni.1_Frame_Shift_Del_p.G117fs|TP53_uc002gij.2_Frame_Shift_Del_p.G117fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.G78fs|TP53_uc010cnk.1_Frame_Shift_Del_p.G132fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	117	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.G59fs*23(3)|p.G117E(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.G117R(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(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)		ACTTGGCTGTCCCAGAATGCA	0.577		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)			52	25	---	---	---	---	NA	NA	NA	NA
KRTAP4-1	85285	broad.mit.edu	37	17	39340854	39340910	+	Splice_Site	DEL	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	-	rs56109753	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	uc002hwe.3	-	1	286	c.245_splice	c.e1+1	p.S82_splice	KRTAP4-1_uc010cxm.1_3'UTR	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1							keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGAGTGGGCGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGTGGCAGCAGCT	0.638		NA											7	12	---	---	---	---	NA	NA	NA	NA
SS18	6760	broad.mit.edu	37	18	23619368	23619369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:23619368_23619369insC	uc002kvm.2	-	6	737_738	c.659_660insG	c.(658-660)GGAfs	p.G220fs	SS18_uc002kvn.2_Frame_Shift_Ins_p.G220fs|SS18_uc010xbf.1_Frame_Shift_Ins_p.G138fs|SS18_uc010xbg.1_Frame_Shift_Ins_p.G168fs|SS18_uc010xbh.1_Frame_Shift_Ins_p.G168fs|SS18_uc010xbi.1_Frame_Shift_Ins_p.G197fs|SS18_uc010dlz.1_Frame_Shift_Ins_p.G168fs	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	220	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTCCGCCTCCCTGTGGCAT	0.426		NA	T	SSX1| SSX2	synovial sarcoma								79	42	---	---	---	---	NA	NA	NA	NA
MN1	4330	broad.mit.edu	37	22	28196406	28196418	+	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	CCCAGTGTGGAAA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:28196406_28196418delCCCAGTGTGGAAA	uc003adj.2	-	1	1069_1081	c.114_126delTTTCCACACTGGG	c.(112-126)GCTTTCCACACTGGGfs	p.A38fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	38_42							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT	0.634		NA	T	ETV6	AML|meningioma								12	74	---	---	---	---	NA	NA	NA	NA
MYH9	4627	broad.mit.edu	37	22	36698676	36698678	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:36698676_36698678delGGA	uc003apg.2	-	20	2666_2668	c.2435_2437delTCC	c.(2434-2439)CTCCAG>CAG	p.L812del	MYH9_uc003aph.1_In_Frame_Del_p.L676del	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	812					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CAGTTCCGCTGGAGGACCTTCAT	0.542		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				31	48	---	---	---	---	NA	NA	NA	NA