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
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:880925C>A	uc001abz.3	-	17	2085	c.2026G>T	c.(2026-2028)GAC>TAC	p.D676Y	NOC2L_uc001aby.3_Missense_Mutation_p.D473Y|NOC2L_uc009vjq.2_Missense_Mutation_p.D676Y	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577		NA											42	18					4.02e-15	5.58e-15	1	0
MFN2	9927	broad.mit.edu	37	1	12064156	12064156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:12064156C>T	uc001atn.3	+	12	1721	c.1268C>T	c.(1267-1269)ACG>ATG	p.T423M	MFN2_uc009vni.2_Missense_Mutation_p.T423M	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	423	Cytoplasmic (Potential).|Potential.				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGCAGATTACGGAGGAAGTG	0.493		NA											16	19					0	0	0	0
WDTC1	23038	broad.mit.edu	37	1	27627909	27627909	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:27627909G>A	uc009vst.2	+	13	1960	c.1425G>A	c.(1423-1425)TTG>TTA	p.L475L	WDTC1_uc001bno.2_Silent_p.L474L|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.L153L	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	475							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGATGCATTGGGCCGCGACA	0.507		NA											23	9					0	0	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:68948183C>T	uc001dem.3	-	8	1425	c.1308G>A	c.(1306-1308)GAG>GAA	p.E436E	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373		NA											70	45					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103491779	103491779	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:103491779T>A	uc001dul.2	-	6	1208	c.890A>T	c.(889-891)CAG>CTG	p.Q297L	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.Q297L	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCTCCGTCTGTGCTATTGT	0.443		NA											15	16					0	0	0	0
ITGA10	8515	broad.mit.edu	37	1	145533882	145533882	+	Missense_Mutation	SNP	A	A	C	rs74529007		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:145533882A>C	uc001eoa.2	+	13	1604	c.1528A>C	c.(1528-1530)ATG>CTG	p.M510L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.M379L|ITGA10_uc009wiw.2_Missense_Mutation_p.M367L|ITGA10_uc010oyw.1_Missense_Mutation_p.M455L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	510	FG-GAP 5.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCCCCCATGTTCCTGGG	0.527		NA											4	36					0	0	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131633	150131633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:150131633T>A	uc001ett.2	+	6	1423	c.1145T>A	c.(1144-1146)CTG>CAG	p.L382Q	PLEKHO1_uc001etr.2_Missense_Mutation_p.L210Q|PLEKHO1_uc001ets.2_Missense_Mutation_p.L199Q|PLEKHO1_uc001etu.2_Missense_Mutation_p.L210Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	382	Negative regulator of AP-1 activity.					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)			CTGAGAGACCTGTACAGACAG	0.622		NA											7	13					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152191599	152191599	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152191599C>A	uc001ezt.1	-	3	2582	c.2506G>T	c.(2506-2508)GGT>TGT	p.G836C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	836	8				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAGTGACCTGAGGCAGAA	0.547		NA											17	39					3.53e-06	4.13e-06	1	0
FLG	2312	broad.mit.edu	37	1	152283555	152283555	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152283555A>T	uc001ezu.1	-	3	3843	c.3807T>A	c.(3805-3807)AGT>AGA	p.S1269R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1269	Ser-rich.|Filaggrin 7.				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)			CCTGGCTAACACTGGATCCCT	0.458		NA							Ichthyosis				71	95					0	0	0	0
IVL	3713	broad.mit.edu	37	1	152882594	152882594	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152882594G>A	uc001fau.2	+	2	367	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCAGCAGCTTAAGCAGG	0.313		NA											8	12					0	0	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154528425	154528425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:154528425C>G	uc001fff.1	-	2	434	c.343G>C	c.(343-345)GTG>CTG	p.V115L		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	115							ATP binding|protein binding|ubiquitin-protein ligase activity				0	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGGCACAGCAGGGTAT	0.527		NA											15	37					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157556137	157556137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:157556137G>C	uc001fqw.2	-	6	1092	c.956C>G	c.(955-957)ACC>AGC	p.T319S	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	319	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAGAATGTGGTATCCCCTGT	0.617		NA											15	37					0	0	0	0
CD1E	913	broad.mit.edu	37	1	158324270	158324270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:158324270G>C	uc001fse.2	+	2	401	c.162G>C	c.(160-162)GAG>GAC	p.E54D	CD1E_uc010pid.1_Missense_Mutation_p.E52D|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.E54D|CD1E_uc001fsk.2_Missense_Mutation_p.E54D|CD1E_uc001fsj.2_Missense_Mutation_p.E54D|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.E54D|CD1E_uc001fry.2_Missense_Mutation_p.E54D|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.E54D|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.E54D|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	54					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CACACAGTGAGGGCTCAGGAT	0.572		NA											16	46					0	0	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460424	160460424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:160460424C>A	uc001fwe.1	-	4	758	c.698G>T	c.(697-699)GGG>GTG	p.G233V	SLAMF6_uc001fwd.1_Missense_Mutation_p.G233V|SLAMF6_uc010pjh.1_Missense_Mutation_p.G184V|SLAMF6_uc010pji.1_Missense_Mutation_p.G122V|SLAMF6_uc010pjj.1_Missense_Mutation_p.G122V	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	233	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATGCATATCCCAGAAACCAT	0.368		NA											19	39					5.35e-07	6.39e-07	1	0
C1orf129	80133	broad.mit.edu	37	1	170941012	170941012	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:170941012C>A	uc001ghg.2	+	8	734	c.604C>A	c.(604-606)CGG>AGG	p.R202R	C1orf129_uc009wvy.2_Silent_p.R9R|C1orf129_uc010plz.1_Silent_p.R202R	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	202							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTACATTGCACGGTGTCAGAA	0.458		NA											51	135					3.19e-20	4.57e-20	1	0
TNR	7143	broad.mit.edu	37	1	175375752	175375752	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:175375752C>A	uc001gkp.1	-	1	180	c.99G>T	c.(97-99)CTG>CTT	p.L33L	TNR_uc009wwu.1_Silent_p.L33L|TNR_uc010pmz.1_Silent_p.L33L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	33					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGTGACCTCCAGCTGACACT	0.537		NA											53	72					1.47e-25	2.15e-25	1	0
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:180151443C>A	uc001gnz.2	+	6	816	c.741C>A	c.(739-741)TCC>TCA	p.S247S	QSOX1_uc001gny.2_Silent_p.S247S|QSOX1_uc001goa.2_Silent_p.S247S|QSOX1_uc001gob.1_RNA	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	247					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GCTCTGTCTCCCGAGTCCCCG	0.602		NA											28	69					1.4e-14	1.93e-14	1	0
FAM129A	116496	broad.mit.edu	37	1	184868311	184868311	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:184868311C>T	uc001gra.2	-	2	380	c.186_splice	c.e2+1	p.K62_splice	FAM129A_uc009wyh.1_Splice_Site_p.K62_splice|FAM129A_uc009wyi.1_Splice_Site	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						CCATGGCTTACCTTGGTCTTC	0.393		NA											6	81					0	0	0	0
PRG4	10216	broad.mit.edu	37	1	186276244	186276244	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:186276244A>G	uc001gru.3	+	7	1444	c.1393A>G	c.(1393-1395)AAG>GAG	p.K465E	PRG4_uc001grt.3_Missense_Mutation_p.K424E|PRG4_uc009wyl.2_Missense_Mutation_p.K372E|PRG4_uc009wym.2_Missense_Mutation_p.K331E|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	465	16; approximate.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CACCACTCCCAAGGAGCCTGC	0.657		NA											7	33					0	0	0	0
PTPRC	5788	broad.mit.edu	37	1	198687403	198687403	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198687403T>G	uc001gur.1	+	14	1805	c.1625T>G	c.(1624-1626)CTT>CGT	p.L542R	PTPRC_uc001gus.1_Missense_Mutation_p.L494R|PTPRC_uc001gut.1_Missense_Mutation_p.L381R|PTPRC_uc009wzf.1_Missense_Mutation_p.L430R|PTPRC_uc010ppg.1_Missense_Mutation_p.L478R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	542	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GTAAAAGATCTTCAATATTCA	0.343		NA											9	8					0	0	0	0
PTPRC	5788	broad.mit.edu	37	1	198713288	198713288	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198713288A>T	uc001gur.1	+	26	2977	c.2797A>T	c.(2797-2799)AGG>TGG	p.R933W	PTPRC_uc001gus.1_Missense_Mutation_p.R885W|PTPRC_uc001gut.1_Missense_Mutation_p.R772W	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	933	Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CATGAAGAAAAGGGATCCACC	0.333		NA											10	26					0	0	0	0
IPO9	55705	broad.mit.edu	37	1	201821282	201821282	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:201821282A>G	uc001gwz.2	+	5	615	c.565A>G	c.(565-567)ATT>GTT	p.I189V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	189					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						TGCTCCTGTCATTCTCCCAGA	0.403		NA											10	41					0	0	0	0
CR1	1378	broad.mit.edu	37	1	207739242	207739242	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:207739242G>T	uc001hfy.2	+	16	2716	c.2576G>T	c.(2575-2577)TGG>TTG	p.W859L	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.W1309L|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	859	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GAAAGCCTTTGGAATAGCAGT	0.433		NA											13	57					6.32e-08	7.79e-08	1	0
HIST3H3	8290	broad.mit.edu	37	1	228612628	228612628	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:228612628C>A	uc001hsx.1	-	1	399	c.399G>T	c.(397-399)GGG>GGT	p.G133G		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	133					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587		NA											16	23					3.33e-07	4e-07	1	0
KCNK1	3775	broad.mit.edu	37	1	233750265	233750265	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:233750265C>T	uc010pxo.1	+	1	516	c.348C>T	c.(346-348)TCC>TCT	p.S116S		NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	116						voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCGTGCTCTCCACCACAGGTA	0.582		NA											3	10					0	0	0	0
CHML	1122	broad.mit.edu	37	1	241798800	241798800	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:241798800C>G	uc001hzd.2	-	1	433	c.269G>C	c.(268-270)CGC>CCC	p.R90P	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	90					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCCTTCTTGCGAAGAGTGAT	0.438		NA											82	148					0	0	0	0
NLRP3	114548	broad.mit.edu	37	1	247593033	247593033	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247593033C>T	uc001icr.2	+	6	2441	c.2303C>T	c.(2302-2304)CCT>CTT	p.P768L	NLRP3_uc001ics.2_Missense_Mutation_p.P768L|NLRP3_uc001icu.2_Missense_Mutation_p.P768L|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.P766L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	768					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGCATCCTGGCTGTAAC	0.498		NA											11	42					0	0	0	0
OR2W5	441932	broad.mit.edu	37	1	247655019	247655019	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247655019C>A	uc001icz.1	+	1	590	c.590C>A	c.(589-591)GCG>GAG	p.A197E		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGGTAGAAGCGATTCACCTT	0.582		NA											24	91					7.38e-10	9.56e-10	1	0
OR2T12	127064	broad.mit.edu	37	1	248458823	248458823	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248458823T>C	uc010pzj.1	-	1	58	c.58A>G	c.(58-60)AGA>GGA	p.R20G		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGGTGGGCTCTGGTGTGGTTA	0.468		NA											31	47					0	0	0	0
OR2T4	127074	broad.mit.edu	37	1	248525119	248525119	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525119T>C	uc001ieh.1	+	1	237	c.237T>C	c.(235-237)CTT>CTC	p.L79L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	79	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGATCCTTCTGATACACT	0.468		NA											86	108					0	0	0	0
OR2T4	127074	broad.mit.edu	37	1	248525375	248525375	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525375C>G	uc001ieh.1	+	1	493	c.493C>G	c.(493-495)CCT>GCT	p.P165A		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	165	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCGTTACCCTGTCCTCAT	0.522		NA											33	130					0	0	0	0
ITGA8	8516	broad.mit.edu	37	10	15649744	15649744	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15649744G>T	uc001ioc.1	-	17	1696	c.1696C>A	c.(1696-1698)CGC>AGC	p.R566S	ITGA8_uc010qcb.1_Missense_Mutation_p.R551S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	566	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GGGAAGACGCGATGAGCCTGA	0.453		NA											123	65					4.51e-65	6.74e-65	1	0
ITGA8	8516	broad.mit.edu	37	10	15700997	15700997	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15700997C>T	uc001ioc.1	-	10	948	c.948_splice	c.e10+1	p.Q316_splice	ITGA8_uc010qcb.1_Splice_Site_p.Q301_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						AATGTCTCTACCTGTTCTCCC	0.279		NA											13	11					0	0	0	0
BICC1	80114	broad.mit.edu	37	10	60562844	60562844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:60562844G>A	uc001jki.1	+	15	2023	c.2023G>A	c.(2023-2025)GAC>AAC	p.D675N	BICC1_uc001jkj.1_Missense_Mutation_p.D316N	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	675					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						CAGCAGCACTGACAGGTTGCT	0.443		NA											9	13					0	0	0	0
NPFFR1	64106	broad.mit.edu	37	10	72020482	72020482	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72020482G>A	uc010qjk.1	-	2	336	c.330C>T	c.(328-330)GAC>GAT	p.D110D		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						ATGTGGCATTGTCGAAGGGCC	0.473		NA											5	2					0	0	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468365	72468365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72468365C>G	uc001jrh.2	+	4	701	c.701C>G	c.(700-702)CCC>CGC	p.P234R	ADAMTS14_uc001jrg.2_Missense_Mutation_p.P234R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GGAGACCTTCCCAACCTGCTG	0.637		NA											10	32					0	0	0	0
UNC5B	219699	broad.mit.edu	37	10	73044575	73044575	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:73044575T>G	uc001jro.2	+	3	848	c.403T>G	c.(403-405)TCC>GCC	p.S135A	UNC5B_uc001jrp.2_Missense_Mutation_p.S135A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	135	Ig-like.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GGCCTGGAGCTCCGCGGGCAC	0.677		NA											18	42					0	0	0	0
POLR3A	11128	broad.mit.edu	37	10	79764513	79764513	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:79764513C>T	uc001jzn.2	-	16	2302	c.2208G>A	c.(2206-2208)CTG>CTA	p.L736L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	736					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCTGCTGCAGCTTGCCCG	0.592		NA											7	15					0	0	0	0
GLUD1	2746	broad.mit.edu	37	10	88854150	88854150	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:88854150T>C	uc001keh.2	-	1	474	c.377A>G	c.(376-378)GAC>GGC	p.D126G	FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	126					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAGGAGCCGTCGTCGCGCCG	0.697		NA											7	17					0	0	0	0
DPCD	25911	broad.mit.edu	37	10	103360557	103360557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:103360557G>C	uc001ktn.2	+	3	213	c.208G>C	c.(208-210)GAC>CAC	p.D70H	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	70							protein binding			skin(1)	1						TGAAGTAGGAGACCCAGCGCC	0.572		NA											14	30					0	0	0	0
PDCD11	22984	broad.mit.edu	37	10	105174888	105174888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:105174888G>T	uc001kwy.1	+	12	1585	c.1498G>T	c.(1498-1500)GGG>TGG	p.G500W		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	500	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTACCACATCGGGGATGAGGT	0.547		NA											7	18					5.69e-11	7.49e-11	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215284	118215284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118215284G>C	uc001lcl.3	+	5	608	c.507G>C	c.(505-507)TTG>TTC	p.L169F		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	169					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		GCCACAGCTTGGGAGCACACC	0.423		NA											3	30					0	0	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351331	118351331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118351331C>A	uc001lco.1	+	3	116	c.98C>A	c.(97-99)CCC>CAC	p.P33H	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P33H|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.P33H|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	33					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		GACACTGAGCCCTGGGGCGGG	0.522		NA											29	87					7.26e-15	1.01e-14	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118396416	118396416	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118396416A>G	uc001lcq.2	+	12	1083	c.1060A>G	c.(1060-1062)AAC>GAC	p.N354D	PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	353				N->Q: Loss of N-glycosylation.	galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		AGAGAGTGGTAACTTTACTAG	0.393		NA											3	11					0	0	0	0
GPR26	2849	broad.mit.edu	37	10	125447567	125447567	+	Missense_Mutation	SNP	G	G	T	rs141519939		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:125447567G>T	uc001lhh.2	+	3	958	c.905G>T	c.(904-906)CGC>CTC	p.R302L		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	302	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CACCAGTACCGCAAAAGCTGC	0.597		NA											19	36					1.56e-12	2.11e-12	1	0
MKI67	4288	broad.mit.edu	37	10	129913803	129913803	+	Missense_Mutation	SNP	C	C	T	rs145509852	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:129913803C>T	uc001lke.2	-	7	1064	c.869G>A	c.(868-870)CGT>CAT	p.R290H	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	290					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGACTTACGCGAGACCAA	0.498		NA											17	42					0	0	0	0
INPP5A	3632	broad.mit.edu	37	10	134563023	134563023	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:134563023G>A	uc001llp.2	+	10	983	c.735G>A	c.(733-735)ACG>ACA	p.T245T	INPP5A_uc001llo.1_Silent_p.T245T|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	245					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCTGCAGACGCTCTGCACAA	0.602		NA											7	20					0	0	0	0
TRIM22	10346	broad.mit.edu	37	11	5730527	5730527	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:5730527G>A	uc001mbr.2	+	8	1423	c.1146G>A	c.(1144-1146)AAG>AAA	p.K382K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.K378K|TRIM22_uc010qzm.1_Silent_p.K210K|TRIM22_uc009yeu.2_Silent_p.K193K|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	382	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATAAAAGGAAGAGCTCTGGGT	0.378		NA											13	44					0	0	0	0
C11orf42	160298	broad.mit.edu	37	11	6231257	6231257	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:6231257C>T	uc001mcj.2	+	2	298	c.250C>T	c.(250-252)CTG>TTG	p.L84L		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	84										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAGCCTCCTGGAGCAGGC	0.612		NA											15	10					0	0	0	0
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:7847305C>G	uc010rbg.1	-	1	215	c.215G>C	c.(214-216)GGG>GCG	p.G72A		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438		NA											40	23					0	0	0	0
PTPRJ	5795	broad.mit.edu	37	11	48181590	48181590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:48181590A>T	uc001ngp.3	+	22	3902	c.3547A>T	c.(3547-3549)ACA>TCA	p.T1183S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1183	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CAGAGATTTCACAGTGAAAAA	0.388		NA											60	35					0	0	0	0
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55340052C>A	uc010rih.1	+	1	449	c.449C>A	c.(448-450)TCC>TAC	p.S150Y		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498		NA											20	58					1.01e-13	1.38e-13	1	0
OR8H3	390152	broad.mit.edu	37	11	55890010	55890010	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55890010C>A	uc001nii.1	+	1	162	c.162C>A	c.(160-162)CTC>CTA	p.L54L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GCCTGGACCTCCAGCTTCACA	0.433		NA											60	308					7.12e-29	1.05e-28	1	0
OR5T2	219464	broad.mit.edu	37	11	56000380	56000380	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000380G>A	uc010rjc.1	-	1	282	c.282C>T	c.(280-282)CTC>CTT	p.L94L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	94	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGGGTTTGTGGAGCTGGGAAT	0.393		NA											6	92					0	0	0	0
OR5T2	219464	broad.mit.edu	37	11	56000428	56000428	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000428G>A	uc010rjc.1	-	1	234	c.234C>T	c.(232-234)CTC>CTT	p.L78L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	78	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AATTTCCCATGAGAGTGAAGA	0.413		NA											9	77					0	0	0	0
OR8K3	219473	broad.mit.edu	37	11	56086376	56086376	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56086376A>T	uc010rjf.1	+	1	594	c.594A>T	c.(592-594)ATA>ATT	p.I198I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TTGAATTGATAATTCTGATCT	0.363		NA											22	70					0	0	0	0
OR5M10	390167	broad.mit.edu	37	11	56344727	56344727	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56344727G>A	uc001niz.1	-	1	471	c.471C>T	c.(469-471)CTC>CTT	p.L157L		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTGTCTGAGAGAGCCCATTAA	0.468		NA											22	72					0	0	0	0
OR5B21	219968	broad.mit.edu	37	11	58275518	58275518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58275518G>A	uc010rki.1	-	1	61	c.61C>T	c.(61-63)CTT>TTT	p.L21F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTATCTGAAGATTGGGGTCA	0.468		NA											23	33					0	0	0	0
DTX4	23220	broad.mit.edu	37	11	58949291	58949291	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58949291C>T	uc001nns.2	+	2	548	c.291C>T	c.(289-291)AAC>AAT	p.N97N	DTX4_uc001nnr.2_Translation_Start_Site	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	97	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				AGTGGGAGAACGACAATGGCT	0.617		NA											13	43					0	0	0	0
OR4D11	219986	broad.mit.edu	37	11	59271271	59271271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:59271271T>C	uc001noa.1	+	1	223	c.223T>C	c.(223-225)TCC>CCC	p.S75P		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTGCTTCTCCTCCACAACTGC	0.488		NA											41	80					0	0	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137901	63137901	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:63137901A>G	uc001nww.2	+	1	641	c.373A>G	c.(373-375)ATC>GTC	p.I125V	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	125	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						GTATGACAGAATCTCCTTCTC	0.493		NA											11	32					0	0	0	0
MTL5	9633	broad.mit.edu	37	11	68518104	68518104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:68518104C>A	uc001ooc.2	-	2	165	c.25G>T	c.(25-27)GGG>TGG	p.G9W	MTL5_uc001ood.1_Missense_Mutation_p.G9W|MTL5_uc009ysi.1_Missense_Mutation_p.G9W|MTL5_uc001ooe.2_Missense_Mutation_p.G9W	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	9					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGGGCAGCCCGCCCGGCAGA	0.697		NA											6	10					0.000274275	0.000300676	1	0
EXPH5	23086	broad.mit.edu	37	11	108381350	108381350	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:108381350G>A	uc001pkk.2	-	6	4995	c.4884C>T	c.(4882-4884)GGC>GGT	p.G1628G	EXPH5_uc010rvy.1_Silent_p.G1440G|EXPH5_uc010rvz.1_Silent_p.G1472G|EXPH5_uc010rwa.1_Silent_p.G1552G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1628					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGGTCAAAGCCAGATCTGC	0.488		NA											22	16					0	0	0	0
OR8D4	338662	broad.mit.edu	37	11	123777713	123777713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:123777713C>T	uc010saa.1	+	1	575	c.575C>T	c.(574-576)ACT>ATT	p.T192I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTCCAGCACTTATATTGAT	0.373		NA											10	108					0	0	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973850	7973850	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7973850C>T	uc001qtk.2	-	13	1798	c.1005G>A	c.(1003-1005)GCG>GCA	p.A335A	SLC2A14_uc001qtl.2_Silent_p.A312A|SLC2A14_uc001qtm.2_Silent_p.A312A|SLC2A14_uc010sgg.1_Silent_p.A226A|SLC2A14_uc001qtn.2_Silent_p.A335A|SLC2A14_uc001qto.2_5'UTR|SLC2A14_uc010sgh.1_Silent_p.A350A	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	335	Helical; Name=8; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TAACCACACCCGCGCTGATGG	0.413		NA											68	62					0	0	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183779	11183779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:11183779C>T	uc001qzo.1	-	1	228	c.156G>A	c.(154-156)GCG>GCA	p.A52A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						CTCTGGAGACCGCCAGAGCAG	0.378		NA											41	131					0	0	0	0
ITPR2	3709	broad.mit.edu	37	12	26774192	26774192	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:26774192T>C	uc001rhg.2	-	26	3743	c.3326A>G	c.(3325-3327)TAC>TGC	p.Y1109C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1109	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GATTTGCTTGTAGTTATCTAC	0.368		NA											11	264					0	0	0	0
C12orf40	283461	broad.mit.edu	37	12	40041680	40041680	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:40041680G>T	uc001rmc.2	+	6	638	c.471G>T	c.(469-471)GTG>GTT	p.V157V	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	157										ovary(6)	6						CTTTTTCAGTGGAGTTACCTT	0.383		NA											8	32					0.000157383	0.000174162	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43833759	43833759	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:43833759T>A	uc010skx.1	-	17	2404	c.2404A>T	c.(2404-2406)AAT>TAT	p.N802Y	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	802	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGCGTTATTTGATCCACTG	0.299		NA											8	3					0	0	0	0
DBX2	440097	broad.mit.edu	37	12	45410203	45410203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:45410203G>T	uc001rok.1	-	4	1058	c.886C>A	c.(886-888)CCA>ACA	p.P296T		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGTTCTGGAGAATTCTCC	0.502		NA											12	43					7.04e-09	8.89e-09	1	0
KRT6C	286887	broad.mit.edu	37	12	52863216	52863216	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:52863216C>G	uc001sal.3	-	8	1486	c.1438G>C	c.(1438-1440)GGC>CGC	p.G480R		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	480	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGTCCAACGCCTTCGCCATTC	0.597		NA											3	38					0	0	0	0
CAND1	55832	broad.mit.edu	37	12	67699449	67699449	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:67699449A>T	uc001stn.2	+	10	2438	c.2001A>T	c.(1999-2001)AAA>AAT	p.K667N	CAND1_uc001sto.2_Missense_Mutation_p.K177N	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	667	HEAT 15.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCTTTGAAACTGGGTACTC	0.423		NA											82	28					0	0	0	0
MYF5	4617	broad.mit.edu	37	12	81110924	81110924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:81110924T>A	uc001szg.2	+	1	217	c.82T>A	c.(82-84)TTT>ATT	p.F28I		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	28					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CGAGGGTGAATTTGGGGACGA	0.622		NA											21	14					0	0	0	0
UTP20	27340	broad.mit.edu	37	12	101767436	101767436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:101767436C>A	uc001tia.1	+	54	7178	c.7022C>A	c.(7021-7023)ACG>AAG	p.T2341K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2341					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GACTCTGCCACGTGCAAAAAG	0.438		NA											13	28					2.27e-07	2.75e-07	1	0
ACAD10	80724	broad.mit.edu	37	12	112186135	112186135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:112186135C>A	uc001tsq.2	+	17	2700	c.2500C>A	c.(2500-2502)CGT>AGT	p.R834S	ACAD10_uc001tsp.2_Missense_Mutation_p.R834S|ACAD10_uc009zvx.2_Missense_Mutation_p.R865S|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CCTGGATCCTCGTTGCCAACT	0.537		NA											42	24					2.25e-16	3.17e-16	1	0
C12orf52	84934	broad.mit.edu	37	12	113629589	113629589	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:113629589G>A	uc001tur.1	+	4	1245	c.777G>A	c.(775-777)GGG>GGA	p.G259G	C12orf52_uc009zwg.1_Silent_p.G256G|C12orf52_uc001tus.1_Silent_p.G259G|C12orf52_uc001tut.1_Silent_p.G283G	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	259	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						GACGAGGTGGGGCCACCCAGA	0.602		NA											30	16					0	0	0	0
ERCC5	2073	broad.mit.edu	37	13	103514530	103514530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:103514530C>G	uc001vpw.2	+	8	1474	c.1031C>G	c.(1030-1032)ACT>AGT	p.T344S	ERCC5_uc001vpu.1_Missense_Mutation_p.T798S|ERCC5_uc010tjb.1_Missense_Mutation_p.T344S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.T176S	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	344					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCCAAGAACTTTACTAGCT	0.512		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				12	67					0	0	0	0
BAZ1A	11177	broad.mit.edu	37	14	35262044	35262044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:35262044G>A	uc001wsk.2	-	12	2015	c.1447C>T	c.(1447-1449)CAG>TAG	p.Q483*	BAZ1A_uc001wsl.2_Nonsense_Mutation_p.Q483*	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	483	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTATTGCCTGGAAGATTGCA	0.398		NA											16	87					0	0	0	0
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356347G>T	uc001wvm.2	+	3	1717	c.519G>T	c.(517-519)TTG>TTT	p.L173F	LRFN5_uc010ana.2_Missense_Mutation_p.L173F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	173	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413		NA								HNSCC(30;0.082)			36	19					3.93e-24	5.72e-24	1	0
LRFN5	145581	broad.mit.edu	37	14	42356804	42356804	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356804A>T	uc001wvm.2	+	3	2174	c.976A>T	c.(976-978)AAG>TAG	p.K326*	LRFN5_uc010ana.2_Nonsense_Mutation_p.K326*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	326	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGAAGGGAAGCTTATTTC	0.458		NA								HNSCC(30;0.082)			17	154					0	0	0	0
FSCB	84075	broad.mit.edu	37	14	44976037	44976037	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:44976037A>G	uc001wvn.2	-	1	463	c.154T>C	c.(154-156)TCT>CCT	p.S52P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	52						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		AGCTCAGAAGATACTCTAATA	0.418		NA											71	173					0	0	0	0
SOCS4	122809	broad.mit.edu	37	14	55510854	55510854	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:55510854G>A	uc001xbo.2	+	3	1660	c.1095G>A	c.(1093-1095)AAG>AAA	p.K365K	SOCS4_uc001xbp.2_Silent_p.K365K	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	365	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						AACATTATAAGGACCCAAGCG	0.423		NA											44	47					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64468757	64468757	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:64468757A>G	uc001xgm.2	+	29	3974	c.3744A>G	c.(3742-3744)GGA>GGG	p.G1248G	SYNE2_uc001xgl.2_Silent_p.G1248G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1248	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCATCCAGGGATTTCATCTCA	0.418		NA											94	99					0	0	0	0
DCAF5	8816	broad.mit.edu	37	14	69542127	69542127	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:69542127T>C	uc001xkp.2	-	7	1100	c.881A>G	c.(880-882)TAT>TGT	p.Y294C	DCAF5_uc001xkq.2_Missense_Mutation_p.Y293C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	294	WD 5.					CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						CGAAAGGATATACTGTTGGAA	0.264		NA											40	101					0	0	0	0
ADAM21	8747	broad.mit.edu	37	14	70924226	70924226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:70924226G>C	uc001xmd.2	+	1	10	c.10G>C	c.(10-12)GAT>CAT	p.D4H		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	4					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATGGCAGTGGATGGGACCCT	0.537		NA											16	186					0	0	0	0
C14orf118	55668	broad.mit.edu	37	14	76633013	76633013	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:76633013A>C	uc001xsh.2	+	3	756	c.670A>C	c.(670-672)AGC>CGC	p.S224R	C14orf118_uc001xsi.2_Missense_Mutation_p.S224R|C14orf118_uc001xsj.1_Missense_Mutation_p.S224R|C14orf118_uc001xsk.1_Missense_Mutation_p.S224R|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	224										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CAGTGAAACCAGCAGTGTGTG	0.433		NA											15	31					0	0	0	0
IFI27L1	122509	broad.mit.edu	37	14	94568245	94568245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:94568245G>T	uc001ycl.2	+	4	355	c.147G>T	c.(145-147)AAG>AAT	p.K49N	IFI27L1_uc001yck.2_Missense_Mutation_p.K49N	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	49						integral to membrane					0						TAGCAGCCAAGATGATGTCTA	0.592		NA											13	49					2.23e-06	2.63e-06	1	0
C15orf2	23742	broad.mit.edu	37	15	24921689	24921689	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:24921689C>T	uc001ywo.2	+	1	1149	c.675C>T	c.(673-675)GCC>GCT	p.A225A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	225					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTGAGAAGGCCCAGGCGTCTC	0.612		NA											8	35					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25962006	25962006	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:25962006G>T	uc010ayu.2	-	9	1753	c.1647C>A	c.(1645-1647)GCC>GCA	p.A549A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	549	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGCCACGGCTAGGCTCT	0.587		NA											12	52					0.000219431	0.000242172	1	0
RYR3	6263	broad.mit.edu	37	15	34021144	34021144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:34021144G>T	uc001zhi.2	+	47	7190	c.7120G>T	c.(7120-7122)GGC>TGC	p.G2374C	RYR3_uc010bar.2_Missense_Mutation_p.G2374C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGCGTTTATGGCATTAAGGA	0.463		NA											9	12					1.13e-05	1.29e-05	1	0
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:40710403G>T	uc001zls.3	+	12	1556	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W	IVD_uc001zlq.2_Missense_Mutation_p.G378W|IVD_uc001zlr.2_Missense_Mutation_p.G111W	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567		NA											14	53					9.17e-09	1.15e-08	1	0
TP53BP1	7158	broad.mit.edu	37	15	43784507	43784507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:43784507T>C	uc001zrs.2	-	2	300	c.152A>G	c.(151-153)CAG>CGG	p.Q51R	TP53BP1_uc010udp.1_Missense_Mutation_p.Q51R|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q56R|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q56R|TP53BP1_uc010udq.1_Missense_Mutation_p.Q56R	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	51					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTGTGCGTCTGGAGATTAGG	0.393		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					3	96					0	0	0	0
C15orf43	145645	broad.mit.edu	37	15	45253759	45253759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:45253759G>C	uc001zuk.2	+	4	342	c.325G>C	c.(325-327)GAC>CAC	p.D109H		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	109											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGGGAACAAGACCAACATTT	0.284		NA											3	63					0	0	0	0
FBN1	2200	broad.mit.edu	37	15	48720627	48720627	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:48720627C>A	uc001zwx.1	-	57	7241	c.6913G>T	c.(6913-6915)GGG>TGG	p.G2305W	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2305	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCAGCGCCCATTCTCACAG	0.488		NA											18	15					3.33e-07	4e-07	1	0
C15orf33	196951	broad.mit.edu	37	15	49880219	49880219	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:49880219C>T	uc001zxl.2	-	5	693	c.399G>A	c.(397-399)AAG>AAA	p.K133K	C15orf33_uc001zxm.2_Silent_p.K133K	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	133										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		ATACCATTATCTTTTTTTTCT	0.269		NA											9	22					0	0	0	0
IL16	3603	broad.mit.edu	37	15	81517986	81517986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:81517986G>T	uc002bgh.3	+	2	622	c.246G>T	c.(244-246)GAG>GAT	p.E82D	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.E82D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.E124D|IL16_uc002bgg.2_Missense_Mutation_p.E82D	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	82					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGGCCTCGGAGGCTGCTCAAC	0.567		NA											6	25					8.13e-05	9.06e-05	1	0
SRRM2	23524	broad.mit.edu	37	16	2811881	2811881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:2811881G>A	uc002crk.2	+	11	1901	c.1352G>A	c.(1351-1353)CGA>CAA	p.R451Q	SRRM2_uc002crj.1_Missense_Mutation_p.R355Q|SRRM2_uc002crl.1_Missense_Mutation_p.R451Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R355Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	451	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGGTCCCACCGAGAGATTTCT	0.542		NA											4	134					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3781826	3781826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:3781826G>A	uc002cvv.2	-	29	5045	c.4841C>T	c.(4840-4842)TCC>TTC	p.S1614F	CREBBP_uc002cvw.2_Missense_Mutation_p.S1576F	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1614	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTCATTGGACACGTTGGG	0.383		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				19	52					0	0	0	0
CIITA	4261	broad.mit.edu	37	16	10995377	10995377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:10995377C>A	uc002dai.3	+	6	576	c.443C>A	c.(442-444)CCA>CAA	p.P148Q	CIITA_uc002daj.3_Missense_Mutation_p.P149Q|CIITA_uc002dak.3_Missense_Mutation_p.P148Q|CIITA_uc002dag.2_Missense_Mutation_p.P148Q|CIITA_uc002dah.2_Missense_Mutation_p.P149Q|CIITA_uc010bup.1_Missense_Mutation_p.P148Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	148					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GCAGCCTTCCCAGAGGAGCTT	0.602		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								12	20					6.72e-11	8.82e-11	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668181	71668181	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:71668181G>A	uc002fat.2	+	3	744	c.681G>A	c.(679-681)ACG>ACA	p.T227T	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	227	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				GGGGCTACACGGGCATCACCA	0.557		NA											4	134					0	0	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389225	76389225	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:76389225C>A	uc002feu.1	+	5	592	c.207C>A	c.(205-207)GGC>GGA	p.G69G	CNTNAP4_uc002fev.1_Translation_Start_Site|CNTNAP4_uc010chb.1_Silent_p.G44G|CNTNAP4_uc002fex.1_Silent_p.G72G|CNTNAP4_uc002few.2_Silent_p.G44G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	69	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						GAGCTGGTGGCTGGTCTCCAC	0.413		NA											6	34					5.49e-09	6.96e-09	1	0
PLCG2	5336	broad.mit.edu	37	16	81942171	81942171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:81942171C>G	uc002fgt.2	+	17	1860	c.1708C>G	c.(1708-1710)CCC>GCC	p.P570A	PLCG2_uc010chg.1_Missense_Mutation_p.P570A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	570	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CGAGACCTTCCCCAATGACTA	0.592		NA											5	6					0	0	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883214	4883214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:4883214G>T	uc002gah.1	-	9	1511	c.1403C>A	c.(1402-1404)TCA>TAA	p.S468*	CAMTA2_uc010cku.1_Nonsense_Mutation_p.S491*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.S467*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.S470*|CAMTA2_uc010ckv.1_Nonsense_Mutation_p.S115*|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.S281*	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	468					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						gggtgggggtgagggaggggg	0.463		NA											24	75					4.27e-12	5.73e-12	1	0
PLSCR3	57048	broad.mit.edu	37	17	7297016	7297016	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7297016G>A	uc002ggm.1	-	3	356	c.147C>T	c.(145-147)TTC>TTT	p.F49F	PLSCR3_uc002ggl.2_Silent_p.F49F|PLSCR3_uc002ggq.1_5'UTR|PLSCR3_uc002ggn.1_Silent_p.F49F|PLSCR3_uc002ggo.1_Silent_p.F49F|PLSCR3_uc002ggp.1_5'UTR|PLSCR3_uc002ggr.1_Silent_p.F49F|PLSCR3_uc010cmg.1_Silent_p.F49F	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	49	Cytoplasmic (By similarity).			F->A: Reduces interaction with PDCD6. Abolishes interaction with PDCD6; when associated with A-52.|F->W: No effect on the interaction with PDCD6.|F->Y,L: Reduces interaction with PDCD6.	phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding				0		Prostate(122;0.173)				GGAAGAGGGCGAAGCCGGGAG	0.711		NA											5	8					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7577018C>A	uc002gim.2	-	8	1113	c.919_splice	c.e8+1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(21)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(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)		TGCTTGCTTACCTCGCTTAGT	0.562		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)			69	19					3.41e-29	5.04e-29	1	0
MYH13	8735	broad.mit.edu	37	17	10248871	10248871	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:10248871G>A	uc002gmk.1	-	14	1416	c.1326C>T	c.(1324-1326)GTC>GTT	p.V442V	MYH13_uc010vvf.1_Silent_p.V117V	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGATGCGGGTGACCATCCACA	0.527		NA											46	78					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11543609	11543609	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:11543609C>T	uc002gne.2	+	10	1877	c.1809C>T	c.(1807-1809)AAC>AAT	p.N603N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCACAAGAACATGCCCACCG	0.602		NA											136	47					0	0	0	0
TEKT3	64518	broad.mit.edu	37	17	15215750	15215750	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:15215750G>C	uc002gon.2	-	7	1114	c.927C>G	c.(925-927)CTC>CTG	p.L309L		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTGGGAGCGGAGAATATTGT	0.463		NA											6	62					0	0	0	0
LRRC48	83450	broad.mit.edu	37	17	17910396	17910396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:17910396A>G	uc010vxd.1	+	13	1640	c.1261A>G	c.(1261-1263)ATC>GTC	p.I421V	LRRC48_uc002gsa.2_Missense_Mutation_p.I421V|LRRC48_uc010vxc.1_Missense_Mutation_p.I421V|LRRC48_uc002gsb.2_Missense_Mutation_p.I421V	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	421						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					GGAGATCTCTATCAGCACCCT	0.562		NA											10	14					0	0	0	0
SPAG5	10615	broad.mit.edu	37	17	26906469	26906469	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:26906469C>A	uc002hbq.2	-	18	3011	c.2919G>T	c.(2917-2919)ATG>ATT	p.M973I	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	973					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					TCATAATACTCATTTCTGCCA	0.488		NA											59	69					5.86e-21	8.42e-21	1	0
SOCS7	30837	broad.mit.edu	37	17	36520668	36520668	+	Missense_Mutation	SNP	C	C	G	rs77546775		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:36520668C>G	uc002hqa.2	+	3	1010	c.887C>G	c.(886-888)TCT>TGT	p.S296C	SOCS7_uc010cvl.2_Missense_Mutation_p.S296C|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	296	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					GTGGACATTTCTCAGCGGGGC	0.542		NA											12	63					0	0	0	0
CDK12	51755	broad.mit.edu	37	17	37687138	37687138	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:37687138T>C	uc010cvv.2	+	14	4628	c.4042T>C	c.(4042-4044)TTC>CTC	p.F1348L	CDK12_uc002hrw.3_Missense_Mutation_p.F1339L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1348					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TGAAACAGGGTTCAGTGCCAT	0.542		NA								TCGA Ovarian(9;0.13)			10	222					0	0	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190615	39190615	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:39190615G>A	uc002hvv.2	-	1	493	c.459C>T	c.(457-459)TGC>TGT	p.C153C		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	163						extracellular region|keratin filament	structural constituent of epidermis				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGGCGGCAGCAGGACTGTC	0.577		NA											11	32					0	0	0	0
EZH1	2145	broad.mit.edu	37	17	40858050	40858050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:40858050C>A	uc002iaz.2	-	16	1959	c.1814G>T	c.(1813-1815)TGC>TTC	p.C605F	EZH1_uc002iba.2_Missense_Mutation_p.C596F|EZH1_uc010wgt.1_Missense_Mutation_p.C535F|EZH1_uc010wgu.1_Missense_Mutation_p.C611F|EZH1_uc010wgv.1_Missense_Mutation_p.C565F|EZH1_uc010wgw.1_Missense_Mutation_p.C466F|EZH1_uc010cyp.2_Missense_Mutation_p.C506F|EZH1_uc010cyq.2_Missense_Mutation_p.C522F|EZH1_uc010cyo.1_Missense_Mutation_p.C268F	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	605	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGATGCTGCAGTTTTTACA	0.537		NA											6	12					0.00116845	0.00125245	1	0
EPN3	55040	broad.mit.edu	37	17	48618421	48618421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:48618421C>G	uc002ira.3	+	7	1682	c.1247C>G	c.(1246-1248)CCT>CGT	p.P416R	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P444R|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P389R	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	416						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCGACACACCTGGTAAGAAG	0.627		NA											4	33					0	0	0	0
ABCA6	23460	broad.mit.edu	37	17	67124870	67124870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:67124870G>T	uc002jhw.1	-	8	1184	c.1009C>A	c.(1009-1011)CTC>ATC	p.L337I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	337	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CCCCAAAAGAGGGTAAGGAGA	0.423		NA											11	63					2.81e-09	3.58e-09	1	0
C17orf77	146723	broad.mit.edu	37	17	72588683	72588683	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:72588683C>T	uc002jla.1	+	3	860	c.498C>T	c.(496-498)TGC>TGT	p.C166C	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	166						extracellular region					0						TGAGGAGCTGCGGGATCTACT	0.587		NA											8	29					0	0	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219976	78219976	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:78219976G>T	uc002jyb.1	+	12	1390	c.1121G>T	c.(1120-1122)GGG>GTG	p.G374V	SLC26A11_uc002jyc.1_Missense_Mutation_p.G374V|SLC26A11_uc002jyd.1_Missense_Mutation_p.G374V|SLC26A11_uc010dhv.1_Missense_Mutation_p.G374V	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	374	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCAGTCGGGGGTGTGCACC	0.667		NA											22	102					3.67e-16	5.17e-16	1	0
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:3215034C>T	uc002klp.2	-	2	522	c.188G>A	c.(187-189)CGG>CAG	p.R63Q	MYOM1_uc002klq.2_Missense_Mutation_p.R63Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	63						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GGCGGACGCCCGACGGAAGGC	0.687		NA											9	38					0	0	0	0
ZFP161	7541	broad.mit.edu	37	18	5291107	5291107	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291107T>A	uc002kmq.2	-	4	1261	c.1100A>T	c.(1099-1101)GAC>GTC	p.D367V	ZFP161_uc002kmr.2_Missense_Mutation_p.D367V|ZFP161_uc010dkp.2_Missense_Mutation_p.D367V	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	367	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAAGGCTTTGTCACACATGTG	0.468		NA											27	100					0	0	0	0
ZFP161	7541	broad.mit.edu	37	18	5291112	5291112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291112C>T	uc002kmq.2	-	4	1256	c.1095G>A	c.(1093-1095)ATG>ATA	p.M365I	ZFP161_uc002kmr.2_Missense_Mutation_p.M365I|ZFP161_uc010dkp.2_Missense_Mutation_p.M365I	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	365	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTTGTCACACATGTGGCACG	0.463		NA											27	99					0	0	0	0
NAPG	8774	broad.mit.edu	37	18	10540342	10540342	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:10540342G>C	uc002kon.2	+	8	679	c.452G>C	c.(451-453)CGA>CCA	p.R151P	NAPG_uc010wzr.1_Missense_Mutation_p.R69P|NAPG_uc002koo.2_Missense_Mutation_p.R64P|NAPG_uc002kop.2_Missense_Mutation_p.R64P	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	151					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						GAACGCTTACGACAGGCAGTT	0.338		NA											26	38					0	0	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752641	14752641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:14752641A>C	uc010dlo.2	+	2	478	c.298A>C	c.(298-300)AAT>CAT	p.N100H	ANKRD30B_uc010xak.1_RNA	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	100	ANK 1.									ovary(1)|skin(1)	2						GTGCCAGCTTAATGTCCTTGA	0.433		NA											13	13					0	0	0	0
PSMA8	143471	broad.mit.edu	37	18	23731942	23731942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:23731942A>G	uc002kvq.2	+	3	482	c.368A>G	c.(367-369)AAG>AGG	p.K123R	PSMA8_uc002kvo.2_Missense_Mutation_p.K79R|PSMA8_uc002kvp.2_Missense_Mutation_p.K117R|PSMA8_uc002kvr.2_Missense_Mutation_p.K91R	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	123					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCAACTTTAAAGCAGGTAAGC	0.388		NA											11	76					0	0	0	0
DSG3	1830	broad.mit.edu	37	18	29054239	29054239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:29054239A>T	uc002kws.2	+	15	2366	c.2257A>T	c.(2257-2259)ACT>TCT	p.T753S	DSG3_uc002kwt.2_Missense_Mutation_p.T35S	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	753	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGGAGCAGCCACTGGAGTTGG	0.537		NA											47	47					0	0	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415329	34415329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34415329T>C	uc002kzz.2	+	3	249	c.227T>C	c.(226-228)GTA>GCA	p.V76A		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	76				V -> A (in Ref. 3; CAD89947).						central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		GGAGATTCAGTAGATGAACAG	0.393		NA											9	195					0	0	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647234	34647234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34647234C>T	uc002kzz.2	+	7	980	c.958C>T	c.(958-960)CCT>TCT	p.P320S	KIAA1328_uc002lab.2_Missense_Mutation_p.P36S|KIAA1328_uc002lac.1_Missense_Mutation_p.P143S|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.P36S	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	320										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		TGACAGCCATCCTACAAACAT	0.473		NA											12	65					0	0	0	0
SYT4	6860	broad.mit.edu	37	18	40853629	40853629	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:40853629C>T	uc002law.2	-	2	1134	c.765G>A	c.(763-765)GGG>GGA	p.G255G	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.G237G|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TTAGAACTTCCCCAATGATAT	0.353		NA											23	12					0	0	0	0
RFX2	5990	broad.mit.edu	37	19	6008155	6008155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:6008155C>T	uc002meb.2	-	10	1365	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I	RFX2_uc002mec.2_Missense_Mutation_p.V341I|RFX2_uc002med.1_Missense_Mutation_p.R35H	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGGGCCTTGACGTCGTGCAGT	0.682		NA											4	3					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9062481	9062481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:9062481G>T	uc002mkp.2	-	3	25169	c.24965C>A	c.(24964-24966)ACT>AAT	p.T8322N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8324	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAAATTTGAAGTGGAACTGGT	0.502		NA											17	69					1.15e-07	1.41e-07	1	0
COL5A3	50509	broad.mit.edu	37	19	10107183	10107183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:10107183C>A	uc002mmq.1	-	13	1434	c.1348G>T	c.(1348-1350)GCA>TCA	p.A450S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	450	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GAGCCGCCTGCAAACTGGAAC	0.612		NA											8	33					5.18e-06	6.02e-06	1	0
OR7A17	26333	broad.mit.edu	37	19	14991735	14991735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:14991735C>A	uc010xob.1	-	1	433	c.433G>T	c.(433-435)GTT>TTT	p.V145F		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					GATGCCAGAACCAGGAGTCCA	0.502		NA											22	42					2.89e-11	3.83e-11	1	0
ZNF536	9745	broad.mit.edu	37	19	30935052	30935052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:30935052G>A	uc002nsu.1	+	2	721	c.583G>A	c.(583-585)GAG>AAG	p.E195K	ZNF536_uc010edd.1_Missense_Mutation_p.E195K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGTGCGCGAGGAGAACCGCCT	0.692		NA											10	13					0	0	0	0
MEGF8	1954	broad.mit.edu	37	19	42863326	42863326	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:42863326A>T	uc002otl.3	+	30	5854	c.5219A>T	c.(5218-5220)GAC>GTC	p.D1740V	MEGF8_uc002otm.3_Missense_Mutation_p.D1348V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1807	Extracellular (Potential).|Kelch 11.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TCGGACCCTGACGAGTTCAGC	0.652		NA											5	6					0	0	0	0
PSG6	5675	broad.mit.edu	37	19	43585341	43585341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:43585341T>A	uc002ovi.2	-	2	215	c.122A>T	c.(121-123)CAG>CTG	p.Q41L	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.Q41L|PSG2_uc002ovq.3_Missense_Mutation_p.Q41L|PSG2_uc010eiq.1_Missense_Mutation_p.Q41L|PSG2_uc002ovs.3_Missense_Mutation_p.Q41L|PSG2_uc002ovt.3_Missense_Mutation_p.Q41L			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	41	Ig-like V-type.			K -> Q (in Ref. 3; CAA34957).	female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				TTTTGGTGGCTGGGCTTCAAT	0.478		NA											44	79					0	0	0	0
ZFP112	7771	broad.mit.edu	37	19	44833219	44833219	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:44833219T>C	uc010ejj.2	-	5	1222	c.1109A>G	c.(1108-1110)CAT>CGT	p.H370R	ZFP112_uc002ozc.3_Missense_Mutation_p.H364R|ZFP112_uc010xwy.1_Missense_Mutation_p.H387R|ZFP112_uc010xwz.1_Missense_Mutation_p.H369R	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GTCTAAGCTATGACTGAAGGC	0.383		NA											14	37					0	0	0	0
CCDC9	26093	broad.mit.edu	37	19	47761913	47761913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:47761913G>T	uc010xym.1	+	3	308	c.101G>T	c.(100-102)CGC>CTC	p.R34L		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	34											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCATCCGGCGCTACCAGGTG	0.502		NA											10	27					9.7e-10	1.25e-09	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48607867	48607867	+	Missense_Mutation	SNP	C	C	A	rs138956741	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:48607867C>A	uc002phx.2	-	4	633	c.235G>T	c.(235-237)GCA>TCA	p.A79S	PLA2G4C_uc002phw.2_Missense_Mutation_p.A14S|PLA2G4C_uc010elr.2_Missense_Mutation_p.A79S|PLA2G4C_uc010xzd.1_Missense_Mutation_p.A89S|PLA2G4C_uc002phy.3_Missense_Mutation_p.A79S	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	79	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.468		NA											14	40					7.05e-17	9.97e-17	1	0
AP2A1	160	broad.mit.edu	37	19	50306435	50306435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:50306435G>T	uc002ppn.2	+	18	2520	c.2309G>T	c.(2308-2310)CGA>CTA	p.R770L	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.R748L|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	770					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCAGAGTTCCGACAGAACCTG	0.617		NA											13	28					2.32e-09	2.97e-09	1	0
ZNF528	84436	broad.mit.edu	37	19	52905281	52905281	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:52905281G>A	uc002pzh.2	+	4	441	c.15G>A	c.(13-15)CAG>CAA	p.Q5Q	ZNF528_uc002pzi.2_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCCTTACTCAGGTAAGGTAAT	0.418		NA											5	26					0	0	0	0
LILRA1	11024	broad.mit.edu	37	19	55107222	55107222	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55107222G>A	uc002qgh.1	+	6	962	c.780G>A	c.(778-780)GAG>GAA	p.E260E	LILRA2_uc010yfg.1_Silent_p.E258E|LILRA1_uc010yfh.1_Silent_p.E260E	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	260	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGTATAAGGAGGGAGAACGTG	0.617		NA											25	66					0	0	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285082	55285082	+	Missense_Mutation	SNP	T	T	A	rs80323556	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55285082T>A	uc002qhb.1	+	3	406	c.368T>A	c.(367-369)ATA>AAA	p.I123K	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.I123K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	123	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		ATCGTGATCATAGGTGAGAGT	0.512		NA											48	119					0	0	0	0
NLRP13	126204	broad.mit.edu	37	19	56423633	56423633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56423633T>C	uc010ygg.1	-	5	1575	c.1550A>G	c.(1549-1551)TAC>TGC	p.Y517C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	517	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGAACTCGTAGAGAGAATC	0.448		NA											14	25					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56485041	56485041	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56485041A>T	uc002qmh.2	+	7	2629	c.2558A>T	c.(2557-2559)CAG>CTG	p.Q853L	NLRP8_uc010etg.2_Intron	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	853	LRR 3.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACCTTACACAGCTTACTTGT	0.498		NA											45	112					0	0	0	0
ZNF304	57343	broad.mit.edu	37	19	57868528	57868528	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:57868528A>T	uc010ygw.1	+	3	1679	c.1291A>T	c.(1291-1293)AAC>TAC	p.N431Y	ZNF304_uc010etw.2_Missense_Mutation_p.N478Y|ZNF304_uc010etx.2_Missense_Mutation_p.N389Y	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	431	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTAGCCATAACTCTAGCCT	0.453		NA											11	26					0	0	0	0
ZNF419	79744	broad.mit.edu	37	19	58001541	58001541	+	Silent	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58001541A>C	uc002qov.2	+	2	300	c.60A>C	c.(58-60)ACA>ACC	p.T20T	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Silent_p.T20T|ZNF419_uc010etz.1_Intron|ZNF419_uc010eua.1_Intron|ZNF419_uc002qow.2_Silent_p.T20T|ZNF419_uc010eub.1_Intron|ZNF419_uc010euc.1_Intron	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACTTGCTTACAGACCATGAGG	0.498		NA											10	21					0	0	0	0
ZNF132	7691	broad.mit.edu	37	19	58945609	58945609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945609C>G	uc002qst.3	-	3	1603	c.1202G>C	c.(1201-1203)AGA>ACA	p.R401T		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	401						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTCATAAGGTCTTACCTGTGT	0.473		NA											17	55					0	0	0	0
ZNF132	7691	broad.mit.edu	37	19	58945629	58945629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945629C>G	uc002qst.3	-	3	1583	c.1182G>C	c.(1180-1182)CAG>CAC	p.Q394H		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	394	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAACTTTCTGATGCCGAA	0.478		NA											17	55					0	0	0	0
ZNF132	7691	broad.mit.edu	37	19	58945685	58945685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945685C>G	uc002qst.3	-	3	1527	c.1126G>C	c.(1126-1128)GAG>CAG	p.E376Q		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	376	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCAGGCACTCAAAAGGCCTT	0.458		NA											14	40					0	0	0	0
ZNF132	7691	broad.mit.edu	37	19	58945763	58945763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945763C>A	uc002qst.3	-	3	1449	c.1048G>T	c.(1048-1050)GAT>TAT	p.D350Y		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	350	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418		NA											12	50					3.07e-06	3.6e-06	1	0
ZNF132	7691	broad.mit.edu	37	19	58946028	58946028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58946028C>G	uc002qst.3	-	3	1184	c.783G>C	c.(781-783)GAG>GAC	p.E261D		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TAAATGGTATCTCTTCAGAGT	0.443		NA											16	83					0	0	0	0
PXDN	7837	broad.mit.edu	37	2	1642655	1642655	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1642655A>G	uc002qxa.2	-	21	4233	c.4169T>C	c.(4168-4170)CTG>CCG	p.L1390P		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1390					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGCATTTCCAGAACAAACTC	0.562		NA											11	42					0	0	0	0
PXDN	7837	broad.mit.edu	37	2	1670117	1670117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1670117G>T	uc002qxa.2	-	10	1224	c.1160C>A	c.(1159-1161)CCG>CAG	p.P387Q	PXDN_uc002qxb.1_Missense_Mutation_p.P387Q|PXDN_uc002qxc.1_Missense_Mutation_p.P204Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	387	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACCCGCGGGTCAACTGG	0.632		NA											6	23					8.13e-05	9.06e-05	1	0
NBAS	51594	broad.mit.edu	37	2	15496497	15496497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:15496497T>A	uc002rcc.1	-	33	3887	c.3861A>T	c.(3859-3861)TTA>TTT	p.L1287F	NBAS_uc010exl.1_Missense_Mutation_p.L359F|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1287										ovary(2)|liver(1)|skin(1)	4						CCTGCTCCACTAAAAGGATTA	0.453		NA											3	34					0	0	0	0
PRKD3	23683	broad.mit.edu	37	2	37505011	37505011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:37505011G>T	uc002rqd.2	-	8	1849	c.1294C>A	c.(1294-1296)CTG>ATG	p.L432M	PRKD3_uc002rqe.1_Missense_Mutation_p.L32M|PRKD3_uc002rqf.1_Missense_Mutation_p.L432M	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TTACTGACCAGGTTATCCCTG	0.378		NA											83	43					1.13e-35	1.68e-35	1	0
KCNG3	170850	broad.mit.edu	37	2	42720364	42720364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:42720364G>C	uc002rsn.2	-	1	874	c.278C>G	c.(277-279)TCC>TGC	p.S93C	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.S93C	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	93	Cytoplasmic (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						GTTGTAGAAGGAGAGCTCGCA	0.647		NA											21	8					0	0	0	0
MTIF2	4528	broad.mit.edu	37	2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:55470638C>T	uc002ryn.2	-	13	2215	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	MTIF2_uc010yox.1_Missense_Mutation_p.R162Q|MTIF2_uc002ryo.2_Missense_Mutation_p.R493Q	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTCTAAAAACCGTAGAATTGA	0.343		NA											47	77					0	0	0	0
EHBP1	23301	broad.mit.edu	37	2	63176055	63176055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:63176055G>T	uc002sby.2	+	14	2661	c.2179G>T	c.(2179-2181)GAC>TAC	p.D727Y	EHBP1_uc010fcp.2_Missense_Mutation_p.D692Y|EHBP1_uc002sbz.2_Missense_Mutation_p.D692Y|EHBP1_uc002scb.2_Missense_Mutation_p.D692Y	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	727						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAAACTCTAGACATCGGTAG	0.353		NA							Hereditary_Prostate_Cancer				24	33					2.28e-19	3.25e-19	1	0
TTC31	64427	broad.mit.edu	37	2	74719855	74719855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74719855G>C	uc002slt.2	+	12	1267	c.1244G>C	c.(1243-1245)TGC>TCC	p.C415S	TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.C269S	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415							binding				0						CTCCGCTCTTGCCTTCTCCAC	0.597		NA											21	62					0	0	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906906	74906906	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74906906G>T	uc002sna.1	+	14	1994	c.1883G>T	c.(1882-1884)TGT>TTT	p.C628F	SEMA4F_uc010ffr.1_Missense_Mutation_p.C240F|SEMA4F_uc002snb.1_Missense_Mutation_p.C240F|SEMA4F_uc002snc.1_Missense_Mutation_p.C473F	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	628	Ig-like C2-type.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GCTTATGCCTGTGAATGTCAG	0.662		NA											25	84					8.25e-16	1.15e-15	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745756	77745756	+	Silent	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:77745756T>G	uc002snr.2	-	3	1654	c.1239A>C	c.(1237-1239)GCA>GCC	p.A413A	LRRTM4_uc002snq.2_Silent_p.A413A|LRRTM4_uc002sns.2_Silent_p.A413A|LRRTM4_uc002snt.2_Silent_p.A414A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		ACTCTTGCTCTGCGCCAGGAA	0.473		NA											36	28					0	0	0	0
CNNM4	26504	broad.mit.edu	37	2	97464940	97464940	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:97464940G>T	uc002swx.2	+	4	1926	c.1828G>T	c.(1828-1830)GAC>TAC	p.D610Y	CNNM4_uc010yuy.1_Missense_Mutation_p.D97Y	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	610					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TAAGCCGGCCGACTACTTCAT	0.592		NA											32	54					6.2e-25	9.04e-25	1	0
RANBP2	5903	broad.mit.edu	37	2	109367719	109367719	+	Splice_Site	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:109367719G>T	uc002tem.3	+	10	1400	c.1274_splice	c.e10-1	p.G425_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTTTATTTCAGGTGCTATTCG	0.338		NA											77	142					8.5e-49	1.27e-48	1	0
DPP10	57628	broad.mit.edu	37	2	116283477	116283477	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116283477A>T	uc002tla.1	+	5	827	c.370A>T	c.(370-372)ACC>TCC	p.T124S	DPP10_uc002tlb.1_Missense_Mutation_p.T74S|DPP10_uc002tlc.1_Missense_Mutation_p.T120S|DPP10_uc002tle.2_Missense_Mutation_p.T128S|DPP10_uc002tlf.1_Missense_Mutation_p.T117S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	124	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TTTCTAGGTAACCTTCAAAGC	0.279		NA											6	41					0	0	0	0
DPP10	57628	broad.mit.edu	37	2	116497324	116497324	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116497324T>A	uc002tla.1	+	9	1164	c.707T>A	c.(706-708)CTG>CAG	p.L236Q	DPP10_uc002tlb.1_Missense_Mutation_p.L186Q|DPP10_uc002tlc.1_Missense_Mutation_p.L232Q|DPP10_uc002tle.2_Missense_Mutation_p.L240Q|DPP10_uc002tlf.1_Missense_Mutation_p.L229Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	236	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAGGAACTCCTGCATTCTCAC	0.458		NA											37	42					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281880	125281880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:125281880G>A	uc002tno.2	+	9	1689	c.1325G>A	c.(1324-1326)GGC>GAC	p.G442D	CNTNAP5_uc010flu.2_Missense_Mutation_p.G443D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	442	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGCAGGCAGCAACTTG	0.547		NA											26	27					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	138414459	138414459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:138414459G>T	uc002tva.1	+	22	4112	c.4112G>T	c.(4111-4113)AGA>ATA	p.R1371I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCAGTCTAGATCAAGGACT	0.463		NA											17	75					6.5e-13	8.82e-13	1	0
LRP1B	53353	broad.mit.edu	37	2	141709504	141709504	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:141709504G>T	uc002tvj.1	-	19	3865	c.2893C>A	c.(2893-2895)CCA>ACA	p.P965T	LRP1B_uc010fnl.1_Missense_Mutation_p.P147T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	965	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAAGTTGGGAATTCTGTG	0.398		NA								TSP Lung(27;0.18)			7	30					8.13e-05	9.06e-05	1	0
ZEB2	9839	broad.mit.edu	37	2	145157042	145157042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:145157042A>G	uc002tvu.2	-	8	2192	c.1712T>C	c.(1711-1713)ATG>ACG	p.M571T	ZEB2_uc002tvv.2_Missense_Mutation_p.M565T|ZEB2_uc010zbm.1_Missense_Mutation_p.M542T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.M600T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	571						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTCTCAATCATTTTGTCATC	0.408		NA											26	86					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152486055	152486055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:152486055C>A	uc010fnx.2	-	64	9291	c.9100G>T	c.(9100-9102)GAT>TAT	p.D3034Y	NEB_uc002txu.2_Missense_Mutation_p.D381Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3034	Nebulin 82.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTACTCACATCACTGATAACG	0.448		NA											12	61					5.51e-06	6.37e-06	1	0
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:155295167C>T	uc002tyr.3	+	12	2026	c.1459C>T	c.(1459-1461)CTC>TTC	p.L487F	GALNT13_uc002tyt.3_Missense_Mutation_p.L487F|GALNT13_uc010fod.2_Missense_Mutation_p.T219I|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	487	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGTTTCTAGACTCAATGGACC	0.318		NA											15	88					0	0	0	0
FIGN	55137	broad.mit.edu	37	2	164467941	164467941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:164467941C>G	uc002uck.1	-	3	712	c.401G>C	c.(400-402)GGA>GCA	p.G134A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	134						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						TGAACTGACTCCAGCTTTGCT	0.498		NA											23	66					0	0	0	0
SLC38A11	151258	broad.mit.edu	37	2	165795989	165795989	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:165795989A>C	uc002ucv.1	-	7	877	c.340T>G	c.(340-342)TTG>GTG	p.L114V	SLC38A11_uc002ucu.1_Missense_Mutation_p.L92V|SLC38A11_uc002ucw.1_Missense_Mutation_p.L114V	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	114	Extracellular (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						TTTCGGTACAAGGATAAAGGC	0.343		NA											9	48					0	0	0	0
SCN7A	6332	broad.mit.edu	37	2	167328890	167328890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:167328890G>T	uc002udu.1	-	5	636	c.509C>A	c.(508-510)GCA>GAA	p.A170E	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	170					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AAATGATCCTGCCCAGACACC	0.343		NA											3	11					6.4e-05	7.17e-05	1	0
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179438979G>T	uc010zfg.1	-	275	64400	c.64176C>A	c.(64174-64176)ATC>ATA	p.I21392I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15087I|TTN_uc010zfi.1_Silent_p.I15020I|TTN_uc010zfj.1_Silent_p.I14895I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22319							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)			TCTTTTCAACGATATAACTGG	0.413		NA											10	35					1.59e-06	1.88e-06	1	0
TTN	7273	broad.mit.edu	37	2	179474460	179474460	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179474460A>G	uc010zfg.1	-	221	44210	c.43986T>C	c.(43984-43986)ATT>ATC	p.I14662I	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I8357I|TTN_uc010zfi.1_Silent_p.I8290I|TTN_uc010zfj.1_Silent_p.I8165I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15589							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)			AAGGTTCACTAATACCCGCGG	0.458		NA											100	107					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179516662	179516662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179516662C>T	uc010zfg.1	-	159	32250	c.32026G>A	c.(32026-32028)GAG>AAG	p.E10676K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11603							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)			GCAGGAGGCTCTTCTAGGGCA	0.483		NA											5	13					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179582094	179582094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179582094G>A	uc010zfg.1	-	85	21859	c.21635C>T	c.(21634-21636)CCT>CTT	p.P7212L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3873L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8139							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)			ATCAAAGAAAGGAGGCACTTC	0.403		NA											11	41					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179584098	179584098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179584098G>A	uc010zfg.1	-	80	20511	c.20287C>T	c.(20287-20289)CGA>TGA	p.R6763*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R3424*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7690							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)			CCAGAGACTCGGCACTCCAAA	0.517		NA											11	68					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179654130	179654130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179654130G>A	uc010zfg.1	-	13	2257	c.2033C>T	c.(2032-2034)ACT>ATT	p.T678I	TTN_uc010zfh.1_Missense_Mutation_p.T632I|TTN_uc010zfi.1_Missense_Mutation_p.T632I|TTN_uc010zfj.1_Missense_Mutation_p.T632I|TTN_uc002unb.2_Missense_Mutation_p.T678I|TTN_uc010frg.1_Missense_Mutation_p.T260I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	678							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)			AGTAGCCATAGTTTCTCTAGT	0.373		NA											35	64					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179659664	179659664	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179659664G>A	uc010zfg.1	-	7	1454	c.1230C>T	c.(1228-1230)GCC>GCT	p.A410A	TTN_uc010zfh.1_Silent_p.A410A|TTN_uc010zfi.1_Silent_p.A410A|TTN_uc010zfj.1_Silent_p.A410A|TTN_uc002unb.2_Silent_p.A410A|TTN_uc010frg.1_Silent_p.A84A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	410							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)			TAGCACCAGTGGCAACAGCCT	0.498		NA											25	44					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179665398G>A	uc002und.2	-	4	532	c.307C>T	c.(307-309)CCA>TCA	p.P103S	TTN_uc010zfg.1_Missense_Mutation_p.P103S|TTN_uc010zfh.1_Missense_Mutation_p.P103S|TTN_uc010zfi.1_Missense_Mutation_p.P103S|TTN_uc010zfj.1_Missense_Mutation_p.P103S|TTN_uc002unb.2_Missense_Mutation_p.P103S			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	103							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)			AAGTTGGGTGGTGCTGTCTCA	0.493		NA											29	34					0	0	0	0
FN1	2335	broad.mit.edu	37	2	216235085	216235085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:216235085A>G	uc002vfa.2	-	41	7051	c.6785T>C	c.(6784-6786)ATA>ACA	p.I2262T	FN1_uc002vfb.2_Missense_Mutation_p.I2050T|FN1_uc002vfc.2_Missense_Mutation_p.I2025T|FN1_uc002vfd.2_Missense_Mutation_p.I2206T|FN1_uc002vfe.2_Missense_Mutation_p.I2140T|FN1_uc002vff.2_Missense_Mutation_p.I2115T|FN1_uc002vfg.2_Missense_Mutation_p.I2081T|FN1_uc002vfh.2_Missense_Mutation_p.I1961T|FN1_uc002vfi.2_Missense_Mutation_p.I2231T|FN1_uc002vfj.2_Missense_Mutation_p.I2052T|FN1_uc002vez.2_Missense_Mutation_p.I425T|FN1_uc010zjp.1_Missense_Mutation_p.I799T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Missense_Mutation_p.I504T|FN1_uc010fvd.1_Missense_Mutation_p.I322T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2171	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCTCCACTATGACGTTGTA	0.502		NA											12	30					0	0	0	0
INHA	3623	broad.mit.edu	37	2	220437168	220437168	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:220437168G>A	uc002vmk.1	+	1	216	c.72G>A	c.(70-72)CTG>CTA	p.L24L	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	24					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGAGCTGGCCCGGGAAC	0.662		NA									OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	20					0	0	0	0
CUL3	8452	broad.mit.edu	37	2	225365205	225365205	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:225365205C>A	uc002vny.2	-	11	1870	c.1486_splice	c.e11-1	p.V496_splice	CUL3_uc010zls.1_Splice_Site_p.V430_splice|CUL3_uc010fwy.1_Splice_Site_p.V502_splice|CUL3_uc002vnz.1_Splice_Site	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAAGATACCTATGTAAAAC	0.428		NA											17	57					1.63e-17	2.31e-17	1	0
COL4A4	1286	broad.mit.edu	37	2	227924319	227924319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:227924319C>A	uc010zlt.1	-	28	2839	c.2185G>T	c.(2185-2187)GAT>TAT	p.D729Y		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	729	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCCGGATCTCCCATGTCA	0.453		NA											23	71					0.000229342	0.000252769	1	0
CAPN10	11132	broad.mit.edu	37	2	241530316	241530316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:241530316G>T	uc002vzk.1	+	3	542	c.358G>T	c.(358-360)GTG>TTG	p.V120L	CAPN10_uc010zoh.1_Missense_Mutation_p.V120L|CAPN10_uc002vzl.1_Missense_Mutation_p.V120L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	120	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGACGCTGGGTGGAGGTGAC	0.617		NA											12	36					2.81e-09	3.58e-09	1	0
SNPH	9751	broad.mit.edu	37	20	1285749	1285749	+	Missense_Mutation	SNP	C	C	T	rs144660706		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:1285749C>T	uc002wes.2	+	6	772	c.536C>T	c.(535-537)ACG>ATG	p.T179M	SNPH_uc002wet.2_Missense_Mutation_p.T223M	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	179					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						AAGCTGGAGACGCTGCTGCAC	0.587		NA											11	30					0	0	0	0
MACROD2	140733	broad.mit.edu	37	20	14066362	14066362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:14066362A>G	uc002wou.2	+	3	523	c.259A>G	c.(259-261)ATA>GTA	p.I87V	MACROD2_uc002wot.2_Missense_Mutation_p.I87V	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	87	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTAGATGCTATAGTCAATGC	0.308		NA											6	25					0	0	0	0
RRBP1	6238	broad.mit.edu	37	20	17600950	17600950	+	Silent	SNP	C	C	T	rs138279227		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:17600950C>T	uc002wpv.1	-	19	2628	c.2274G>A	c.(2272-2274)TCG>TCA	p.S758S	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Silent_p.S128S|RRBP1_uc002wpu.2_Silent_p.S532S|RRBP1_uc002wpw.1_Silent_p.S758S|RRBP1_uc010gcl.1_Silent_p.S532S|RRBP1_uc010gcm.1_3'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1191	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						ATACCTGGTCCGAACTTTCAA	0.488		NA											27	85					0	0	0	0
PAX1	5075	broad.mit.edu	37	20	21687085	21687085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:21687085A>G	uc002wsj.2	+	2	350	c.296A>G	c.(295-297)TAT>TGT	p.Y99C	PAX1_uc010zsl.1_Missense_Mutation_p.Y99C|PAX1_uc010zsm.1_Missense_Mutation_p.Y75C	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	99	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GAGCAGACGTATGGCGAGGTG	0.672		NA											12	34					0	0	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33609096	33609096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:33609096C>T	uc002xbk.2	-	9	1149	c.1115G>A	c.(1114-1116)AGA>AAA	p.R372K	TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R364K|TRPC4AP_uc010zur.1_Missense_Mutation_p.R333K|TRPC4AP_uc002xbm.1_Missense_Mutation_p.R372K	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	372	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGCTGGGTTCTGGCTGACGT	0.552		NA											13	31					0	0	0	0
TGM2	7052	broad.mit.edu	37	20	36776383	36776383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:36776383C>A	uc002xhr.2	-	5	761	c.661G>T	c.(661-663)GGC>TGC	p.G221C	TGM2_uc010zvx.1_Missense_Mutation_p.G140C|TGM2_uc010zvy.1_Missense_Mutation_p.G161C|TGM2_uc002xhs.1_Missense_Mutation_p.G197C|TGM2_uc002xht.2_Missense_Mutation_p.G221C|TGM2_uc002xhu.3_Missense_Mutation_p.G221C	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	221					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCACCCGGCCCACGTAGACG	0.652		NA											7	10					0.000442599	0.000481981	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42885797	42885797	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:42885797G>T	uc002xlq.2	+	2	252	c.185G>T	c.(184-186)CGG>CTG	p.R62L	GDAP1L1_uc002xlp.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwl.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwn.1_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	62	GST N-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGGTGCGGCTGGTGATC	0.706		NA											10	3					0.000442599	0.000481981	1	0
CBLN4	140689	broad.mit.edu	37	20	54575848	54575848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:54575848C>G	uc002xxa.2	-	2	1132	c.347G>C	c.(346-348)AGA>ACA	p.R116T		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	116	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			AATTCCTTTTCTTGGTGCTAC	0.323		NA											22	63					0	0	0	0
ZNF831	128611	broad.mit.edu	37	20	57781960	57781960	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:57781960G>C	uc002yan.2	+	3	3876	c.3876G>C	c.(3874-3876)AGG>AGC	p.R1292S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1292						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TCTTCTACAGGTACAAAGGGA	0.532		NA											63	214					0	0	0	0
C21orf45	54069	broad.mit.edu	37	21	33647184	33647184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:33647184C>G	uc002ypi.2	-	2	409	c.358G>C	c.(358-360)GAT>CAT	p.D120H	C21orf45_uc011adn.1_Missense_Mutation_p.D120H	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	120					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0						TGTTCCTTATCCACAGAAACA	0.303		NA											17	4					0	0	0	0
PDE9A	5152	broad.mit.edu	37	21	44195393	44195393	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:44195393A>G	uc002zbm.2	+	20	1835	c.1772A>G	c.(1771-1773)GAC>GGC	p.D591G	PDE9A_uc002zbn.2_Missense_Mutation_p.D464G|PDE9A_uc002zbo.2_Missense_Mutation_p.D538G|PDE9A_uc002zbp.2_Missense_Mutation_p.D384G|PDE9A_uc002zbq.2_Missense_Mutation_p.D489G|PDE9A_uc002zbs.2_Missense_Mutation_p.D384G|PDE9A_uc002zbr.2_Missense_Mutation_p.D384G|PDE9A_uc002zbt.2_Missense_Mutation_p.D463G|PDE9A_uc002zbu.2_Missense_Mutation_p.D457G|PDE9A_uc002zbv.2_Missense_Mutation_p.D431G|PDE9A_uc002zbw.2_Missense_Mutation_p.D374G|PDE9A_uc002zbx.2_Missense_Mutation_p.D531G|PDE9A_uc002zby.2_Missense_Mutation_p.D374G|PDE9A_uc002zbz.2_Missense_Mutation_p.D483G|PDE9A_uc002zca.2_Missense_Mutation_p.D550G|PDE9A_uc002zcb.2_Missense_Mutation_p.D565G|PDE9A_uc002zcc.2_Missense_Mutation_p.D490G|PDE9A_uc002zcd.2_Missense_Mutation_p.D505G|PDE9A_uc002zce.2_Missense_Mutation_p.D524G|PDE9A_uc002zcf.2_Missense_Mutation_p.D384G|PDE9A_uc002zcg.2_Missense_Mutation_p.D384G|PDE9A_uc002zch.2_Missense_Mutation_p.D374G	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	591					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CTTCCAGGAGACTGTGCCTGA	0.433		NA											32	57					0	0	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989484	22989484	+	Silent	SNP	G	G	C	rs139520107		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:22989484G>C	uc010gtt.2	+	3	370	c.336G>C	c.(334-336)ACG>ACC	p.T112T	LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Silent_p.T112T	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase-like 4 isoform 1	112					glutathione biosynthetic process		gamma-glutamyltransferase activity			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTGCCCGACGATCATGGTGG	0.647		NA											34	96					0	0	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387522	39387522	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:39387522G>C	uc003awo.1	+	6	963	c.909G>C	c.(907-909)GTG>GTC	p.V303V	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.V278V|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					ACACACACGTGAGACTGCGCA	0.582		NA											25	203					0	0	0	0
ATXN10	25814	broad.mit.edu	37	22	46114314	46114314	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:46114314C>T	uc003bgm.1	+	6	926	c.669C>T	c.(667-669)CTC>CTT	p.L223L	ATXN10_uc011aqt.1_Silent_p.L159L|ATXN10_uc003bgn.1_Silent_p.L34L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	223					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTACAGACCTCTTTCTGAAAA	0.418		NA											26	115					0	0	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28520395	28520395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:28520395G>T	uc003ceh.2	+	5	751	c.583G>T	c.(583-585)GAA>TAA	p.E195*	ZCWPW2_uc003cei.2_Nonsense_Mutation_p.E195*|ZCWPW2_uc010hfo.2_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	195							zinc ion binding			ovary(2)	2						GCAAAGACTGGAAATGTGCTG	0.299		NA											3	29					0.000602214	0.000651472	1	0
MLH1	4292	broad.mit.edu	37	3	37048514	37048514	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:37048514C>G	uc003cgl.2	+	5	473	c.413C>G	c.(412-414)CCT>CGT	p.P138R	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.P138R|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.P40R|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	138					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CTGAAAGCCCCTCCTAAACCA	0.373		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				14	19					0	0	0	0
SCN11A	11280	broad.mit.edu	37	3	38949584	38949584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:38949584A>C	uc011ays.1	-	10	1528	c.1329T>G	c.(1327-1329)AGT>AGG	p.S443R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	443					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTAAGTGAACTTCTGTCAA	0.388		NA											24	31					0	0	0	0
RBM6	10180	broad.mit.edu	37	3	50091779	50091779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:50091779C>T	uc003cyc.2	+	8	1777	c.1644C>T	c.(1642-1644)AAC>AAT	p.N548N	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Silent_p.N67N|RBM6_uc003cyd.2_Silent_p.N26N|RBM6_uc003cye.2_Silent_p.N26N|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	548					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTAAGGCAAACATTGGTGGGC	0.383		NA											27	116					0	0	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016867	73016867	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73016867G>T	uc003dpg.2	+	6	1146	c.1146G>T	c.(1144-1146)CGG>CGT	p.R382R		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	382	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						AAGCAATACGGGATGTAAGTG	0.483		NA											3	15					6.4e-05	7.17e-05	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433279	73433279	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73433279T>G	uc003dpl.1	-	10	2534	c.2438A>C	c.(2437-2439)GAA>GCA	p.E813A	PDZRN3_uc011bgh.1_Missense_Mutation_p.E470A|PDZRN3_uc010hoe.1_Missense_Mutation_p.E511A|PDZRN3_uc011bgf.1_Missense_Mutation_p.E530A|PDZRN3_uc011bgg.1_Missense_Mutation_p.E533A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCGGGATCTTCCGTGATGGA	0.652		NA											17	49					0	0	0	0
CNTN3	5067	broad.mit.edu	37	3	74411124	74411124	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:74411124G>T	uc003dpm.1	-	10	1361	c.1281C>A	c.(1279-1281)GTC>GTA	p.V427V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	427	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATCCAAGCTGACCAGGCTGC	0.502		NA											7	30					5.18e-06	6.02e-06	1	0
ROBO1	6091	broad.mit.edu	37	3	78766929	78766929	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:78766929G>A	uc003dqe.2	-	6	970	c.762C>T	c.(760-762)GCC>GCT	p.A254A	ROBO1_uc003dqb.2_Silent_p.A215A|ROBO1_uc003dqc.2_Silent_p.A215A|ROBO1_uc003dqd.2_Silent_p.A215A|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	254	Extracellular (Potential).|Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTCAGCTCGGCTACTTCAC	0.383		NA											4	13					0	0	0	0
CADM2	253559	broad.mit.edu	37	3	85961535	85961535	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:85961535T>G	uc003dqj.2	+	5	1141	c.515T>G	c.(514-516)TTA>TGA	p.L172*	CADM2_uc003dqk.2_Nonsense_Mutation_p.L181*|CADM2_uc003dql.2_Nonsense_Mutation_p.L174*	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	172	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAAAATATTTAAAAGAAGAG	0.383		NA											3	21					0	0	0	0
EPHA3	2042	broad.mit.edu	37	3	89156987	89156987	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:89156987G>C	uc003dqy.2	+	1	313	c.88_splice	c.e1+1	p.V30_splice	EPHA3_uc003dqx.1_Splice_Site_p.V30_splice|EPHA3_uc010hon.1_Splice_Site	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATGAAGGTAAGCCAGGT	0.597		NA								TSP Lung(6;0.00050)			14	31					0	0	0	0
TRAT1	50852	broad.mit.edu	37	3	108568076	108568076	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:108568076T>A	uc003dxi.1	+	5	422	c.278T>A	c.(277-279)ATG>AAG	p.M93K	TRAT1_uc010hpx.1_Missense_Mutation_p.M56K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	93	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						GTAAATAAGATGCAGGAAGCC	0.363		NA											14	54					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109026954	109026954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:109026954T>C	uc003dxo.2	-	6	830	c.583A>G	c.(583-585)AGA>GGA	p.R195G		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	195						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TGAACAGCTCTTGCAGCAATT	0.438		NA											25	91					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646669	122646669	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:122646669C>A	uc003efz.1	-	8	1122	c.818G>T	c.(817-819)CGC>CTC	p.R273L	SEMA5B_uc011bju.1_Missense_Mutation_p.R215L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273L|SEMA5B_uc010hro.1_Missense_Mutation_p.R215L|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	273	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGCAGTGCGAAGCGGTGG	0.632		NA											6	40					2.77e-08	3.46e-08	1	0
KALRN	8997	broad.mit.edu	37	3	123987646	123987646	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:123987646G>A	uc003ehg.2	+	5	634	c.507G>A	c.(505-507)ACG>ACA	p.T169T	KALRN_uc010hrv.1_Silent_p.T169T|KALRN_uc003ehf.1_Silent_p.T169T|KALRN_uc011bjy.1_Silent_p.T169T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CCCAGCTGACGGAGGAGTTTG	0.587		NA											13	59					0	0	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089875	134089875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:134089875C>A	uc003eqf.2	-	2	692	c.575G>T	c.(574-576)CGT>CTT	p.R192L	AMOTL2_uc003eqg.1_Missense_Mutation_p.R134L|AMOTL2_uc003eqh.1_Missense_Mutation_p.R134L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	134										large_intestine(1)	1						CGGGGCCCCACGGGGATCTCG	0.687		NA											11	7					0.00010058	0.000111907	1	0
AGTR1	185	broad.mit.edu	37	3	148459551	148459551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:148459551G>A	uc003ewg.2	+	4	1175	c.729G>A	c.(727-729)ATG>ATA	p.M243I	AGTR1_uc003ewh.2_Missense_Mutation_p.M243I|AGTR1_uc003ewi.2_Missense_Mutation_p.M243I|AGTR1_uc003ewj.2_Missense_Mutation_p.M243I|AGTR1_uc003ewk.2_Missense_Mutation_p.M243I	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	243	Helical; Name=6; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGATAATTATGGCAATTGTGC	0.328		NA											72	33					0	0	0	0
P2RY1	5028	broad.mit.edu	37	3	152553781	152553781	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:152553781C>A	uc003ezq.2	+	1	1046	c.210C>A	c.(208-210)AGC>AGA	p.S70R		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	70	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCAACAGCGTGGCCATCT	0.537		NA											6	121					0.00116845	0.00125245	1	0
PLCH1	23007	broad.mit.edu	37	3	155199248	155199248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:155199248C>A	uc011bok.1	-	23	4868	c.4591G>T	c.(4591-4593)GTG>TTG	p.V1531L	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.V1493L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1531					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTCTTCACAGTCACGCCC	0.443		NA											13	73					0.000219431	0.000242172	1	0
SPATA16	83893	broad.mit.edu	37	3	172674544	172674544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:172674544A>T	uc003fin.3	-	6	1162	c.1004T>A	c.(1003-1005)ATA>AAA	p.I335K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	335					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATCAGCTCTTATTTTTGTCGC	0.368		NA											5	57					0	0	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366326	190366326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:190366326G>T	uc003fsm.1	+	12	1751	c.1545G>T	c.(1543-1545)AAG>AAT	p.K515N	IL1RAP_uc010hzg.1_Missense_Mutation_p.K515N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.K515N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	515	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAGAGCTGAAGAGGGCTAAGA	0.498		NA											11	97					4.37e-10	5.7e-10	1	0
OPA1	4976	broad.mit.edu	37	3	193366587	193366587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:193366587G>T	uc003ftm.2	+	19	2008	c.1774G>T	c.(1774-1776)GAA>TAA	p.E592*	OPA1_uc003ftg.2_Nonsense_Mutation_p.E647*|OPA1_uc003fth.2_Nonsense_Mutation_p.E611*|OPA1_uc003fti.2_Nonsense_Mutation_p.E629*|OPA1_uc003ftj.2_Nonsense_Mutation_p.E610*|OPA1_uc003ftk.2_Nonsense_Mutation_p.E593*|OPA1_uc003ftl.2_Nonsense_Mutation_p.E574*|OPA1_uc003ftn.2_Nonsense_Mutation_p.E556*	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	592	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGCCTAGAATGAACTATTTGA	0.313		NA											19	64					3.52e-12	4.73e-12	1	0
FAM43A	131583	broad.mit.edu	37	3	194408726	194408726	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:194408726A>T	uc003fuj.2	+	1	2105	c.1171A>T	c.(1171-1173)AGC>TGC	p.S391C		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	391										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGGCAGCGAGAGCTCCATCGA	0.736		NA											7	15					0	0	0	0
C4orf50	389197	broad.mit.edu	37	4	5975389	5975389	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:5975389T>C	uc003git.1	-	4	495	c.405A>G	c.(403-405)CCA>CCG	p.P135P		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	135										pancreas(2)|breast(1)	3						ACTCTACCTCTGGGACTCCCG	0.637		NA											73	53					0	0	0	0
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:7533275G>A	uc003gkb.3	+	3	567	c.567G>A	c.(565-567)ACG>ACA	p.T189T	SORCS2_uc011bwi.1_Silent_p.T17T	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	189	BNR 1.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						ATTTCGGGACGTCCTACACCA	0.602		NA											13	10					0	0	0	0
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:9784478C>A	uc003gmb.3	+	1	1221	c.825C>A	c.(823-825)AGC>AGA	p.S275R		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	275	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCGGAGCAGCGCAGCCTGCG	0.637		NA											4	30					0.00909568	0.00950122	1	0
N4BP2	55728	broad.mit.edu	37	4	40104316	40104316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:40104316T>C	uc003guy.3	+	4	1189	c.851T>C	c.(850-852)GTA>GCA	p.V284A	N4BP2_uc010ifq.2_Missense_Mutation_p.V204A|N4BP2_uc010ifr.2_Missense_Mutation_p.V204A	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	284						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GAAGCTCCTGTAGATTTGGAT	0.458		NA											28	15					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62679530	62679530	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679530A>C	uc010ihh.2	+	6	1372	c.1199A>C	c.(1198-1200)CAG>CCG	p.Q400P	LPHN3_uc003hcq.3_Missense_Mutation_p.Q400P|LPHN3_uc003hcs.1_Missense_Mutation_p.Q229P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	400	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						tccacagggcaggcacatcat	0.124		NA											8	8					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62679532	62679532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679532G>T	uc010ihh.2	+	6	1374	c.1201G>T	c.(1201-1203)GCA>TCA	p.A401S	LPHN3_uc003hcq.3_Missense_Mutation_p.A401S|LPHN3_uc003hcs.1_Missense_Mutation_p.A230S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	401	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						cacagggcaggcacatcatgg	0.119		NA											8	8					4.69e-08	5.8e-08	1	0
HERC3	8916	broad.mit.edu	37	4	89607922	89607922	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:89607922A>G	uc003hrw.1	+	22	2709	c.2543A>G	c.(2542-2544)GAT>GGT	p.D848G	HERC3_uc011cdn.1_Missense_Mutation_p.D730G|HERC3_uc011cdo.1_Missense_Mutation_p.D292G	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCGGGGAGGATGTGGAGGAG	0.423		NA											14	17					0	0	0	0
GRID2	2895	broad.mit.edu	37	4	94006249	94006249	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:94006249C>A	uc011cdt.1	+	3	606	c.348C>A	c.(346-348)CAC>CAA	p.H116Q	GRID2_uc010ikx.2_Missense_Mutation_p.H116Q|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	116	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATATCCCCCACCTCTTCATTC	0.562		NA											21	19					5.35e-11	7.06e-11	1	0
NDST4	64579	broad.mit.edu	37	4	115858477	115858477	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:115858477G>T	uc003ibu.2	-	5	2083	c.1404C>A	c.(1402-1404)ATC>ATA	p.I468I	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	468	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCTCACCATGATGCTATTGT	0.448		NA											36	11					4.63e-21	6.66e-21	1	0
NR3C2	4306	broad.mit.edu	37	4	149356316	149356316	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:149356316A>T	uc003ilj.3	-	2	2031	c.1697T>A	c.(1696-1698)CTG>CAG	p.L566Q	NR3C2_uc003ilk.3_Missense_Mutation_p.L566Q|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCTAGACGACAGGTCGCCGTG	0.413		NA											22	53					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13859686	13859686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:13859686G>A	uc003jfd.2	-	30	4867	c.4825C>T	c.(4825-4827)CAA>TAA	p.Q1609*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1609	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACCCATTTTTGAATCTGGGCT	0.378		NA							Kartagener_syndrome				42	124					0	0	0	0
CDH18	1016	broad.mit.edu	37	5	19839081	19839081	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:19839081G>A	uc003jgc.2	-	2	392	c.15C>T	c.(13-15)AGC>AGT	p.S5S	CDH18_uc003jgd.2_Silent_p.S5S|CDH18_uc011cnm.1_Silent_p.S5S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	5					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCAAGATGTGCTAGTAATTT	0.433		NA											16	12					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23522455G>T	uc003jgo.2	+	7	733	c.551G>T	c.(550-552)CGA>CTA	p.R184L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TATAGCCTGCGAGAAAGAAAG	0.458		NA								HNSCC(3;0.000094)			45	38					5.24e-18	7.46e-18	1	0
PRDM9	56979	broad.mit.edu	37	5	23527462	23527462	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23527462G>T	uc003jgo.2	+	11	2447	c.2265G>T	c.(2263-2265)CGG>CGT	p.R755R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755	C2H2-type 10.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGTGTGGGCGGGGCTTTCGCG	0.582		NA								HNSCC(3;0.000094)			35	36					2.41e-17	3.41e-17	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33616118	33616118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:33616118C>A	uc003jia.1	-	15	2366	c.2203G>T	c.(2203-2205)GAG>TAG	p.E735*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.E650*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	735	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCAGCTCCCTCAATTTCCATC	0.448		NA								HNSCC(64;0.19)			14	44					4.38e-07	5.25e-07	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41052600	41052600	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:41052600G>T	uc003jmj.3	-	12	1687	c.1197C>A	c.(1195-1197)GTC>GTA	p.V399V	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	399							binding			ovary(6)|central_nervous_system(2)	8						ACTGGGAGAAGACATAATCAA	0.403		NA											13	51					7.93e-07	9.43e-07	1	0
MEF2C	4208	broad.mit.edu	37	5	88047672	88047672	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:88047672A>T	uc003kjj.2	-	5	1262	c.589_splice	c.e5+1	p.G197_splice	MEF2C_uc003kji.2_Splice_Site_p.G197_splice|MEF2C_uc003kjk.2_Splice_Site_p.G197_splice|MEF2C_uc003kjm.2_Splice_Site_p.G195_splice|MEF2C_uc003kjl.2_Splice_Site_p.G215_splice	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK 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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATGAGGACATACCTGTGTTAC	0.453		NA								HNSCC(66;0.2)			43	105					0	0	0	0
KCNN2	3781	broad.mit.edu	37	5	113698644	113698644	+	Missense_Mutation	SNP	G	G	T	rs34895620		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:113698644G>T	uc003kqo.2	+	1	629	c.172G>T	c.(172-174)GCT>TCT	p.A58S		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCCGCCGCCGCTGTTTCGTC	0.612		NA											4	0					3.1e-07	3.74e-07	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176015	140176015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140176015T>A	uc003lhd.2	+	1	1572	c.1466T>A	c.(1465-1467)CTG>CAG	p.L489Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.L489Q|PCDHA2_uc011czy.1_Missense_Mutation_p.L489Q	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	489	Cadherin 5.|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)			GAGAACGCGCTGGTGTCCTAC	0.657		NA											23	42					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262396	140262396	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140262396C>T	uc003lif.2	+	1	543	c.543C>T	c.(541-543)GAC>GAT	p.D181D	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D181D|PCDHA13_uc003lid.2_Silent_p.D181D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	181	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTTTGGACGCACAAAACA	0.433		NA											7	42					0	0	0	0
FAM65B	9750	broad.mit.edu	37	6	24861201	24861201	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:24861201C>A	uc003neo.1	-	8	804	c.628G>T	c.(628-630)GGT>TGT	p.G210C	FAM65B_uc011djs.1_Missense_Mutation_p.G239C|FAM65B_uc011dju.1_Missense_Mutation_p.G244C|FAM65B_uc003nep.2_Missense_Mutation_p.G210C|FAM65B_uc011djt.1_Missense_Mutation_p.G210C	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	210					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						AAAATAATACCTTTCATCTTG	0.428		NA											6	3					0.00198382	0.00211814	1	0
HIST1H4G	8369	broad.mit.edu	37	6	26246948	26246948	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:26246948G>T	uc003nhf.2	-	1	258	c.258C>A	c.(256-258)GCC>GCA	p.A86A		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	86					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTAGACCACGGCCATGGCGG	0.567		NA											19	8					4.35e-09	5.53e-09	1	0
DST	667	broad.mit.edu	37	6	56341031	56341031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:56341031C>A	uc003pdf.2	-	86	15451	c.15423G>T	c.(15421-15423)TGG>TGT	p.W5141C	DST_uc003pcz.3_Missense_Mutation_p.W4963C|DST_uc011dxj.1_Missense_Mutation_p.W4992C|DST_uc011dxk.1_Missense_Mutation_p.W5003C|DST_uc003pcy.3_Missense_Mutation_p.W4637C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7049					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCAGCCCATTGCAACC	0.448		NA											10	8					0.000442599	0.000481981	1	0
PHF3	23469	broad.mit.edu	37	6	64395424	64395424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:64395424C>A	uc003pep.1	+	3	1827	c.1801C>A	c.(1801-1803)CAC>AAC	p.H601N	PHF3_uc010kaf.1_Missense_Mutation_p.H601N|PHF3_uc003pem.2_Missense_Mutation_p.H554N|PHF3_uc010kag.1_Missense_Mutation_p.H513N|PHF3_uc010kah.1_Missense_Mutation_p.H415N|PHF3_uc003pen.2_Missense_Mutation_p.H513N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.H601N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGATAAGTCACACGCTCATCC	0.398		NA											11	159					2.27e-07	2.75e-07	1	0
SMAP1	60682	broad.mit.edu	37	6	71570005	71570005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:71570005G>T	uc003pfr.2	+	11	1620	c.1372G>T	c.(1372-1374)GGT>TGT	p.G458C	SMAP1_uc003pfs.2_Missense_Mutation_p.G431C|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_Missense_Mutation_p.G448C|B3GAT2_uc011dxz.1_RNA	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	458					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						AAGCTCATCAGGTCAGACTCT	0.498		NA											8	60					0.000442599	0.000481981	1	0
PHIP	55023	broad.mit.edu	37	6	79711634	79711634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:79711634T>A	uc003pir.2	-	17	2087	c.1861A>T	c.(1861-1863)ATG>TTG	p.M621L	PHIP_uc011dyp.1_Missense_Mutation_p.M621L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	621					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTTACTCCCATCTGAGGGATG	0.398		NA											22	13					0	0	0	0
AKIRIN2	55122	broad.mit.edu	37	6	88387536	88387536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:88387536C>A	uc003pmk.2	-	3	1112	c.529G>T	c.(529-531)GAA>TAA	p.E177*		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	akirin 2	177					innate immune response|transcription, DNA-dependent	transcriptional repressor complex					0						CACCTCATACCTGCAAGTTTT	0.378		NA											18	29					3.52e-12	4.73e-12	1	0
ASCC3	10973	broad.mit.edu	37	6	100964151	100964151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:100964151C>A	uc003pqk.2	-	39	6309	c.5980G>T	c.(5980-5982)GAG>TAG	p.E1994*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAGGGACTCGATGGAGGTC	0.453		NA											43	33					5.45e-19	7.77e-19	1	0
LPA	4018	broad.mit.edu	37	6	160978515	160978515	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:160978515A>G	uc003qtl.2	-	30	4840	c.4720T>C	c.(4720-4722)TGC>CGC	p.C1574R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4082	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCAGATTGCAGTACTCCCAC	0.493		NA											39	34					0	0	0	0
C7orf50	84310	broad.mit.edu	37	7	1040142	1040142	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:1040142C>T	uc003sju.2	-	4	439	c.369G>A	c.(367-369)CAG>CAA	p.Q123Q	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Silent_p.Q123Q|C7orf50_uc011jvu.1_Silent_p.Q123Q	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	123							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GGAGCCACGTCTGCCTCGTCT	0.597		NA											6	3					0	0	0	0
ITGB8	3696	broad.mit.edu	37	7	20403258	20403258	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:20403258A>T	uc003suu.2	+	2	833	c.128_splice	c.e2-2	p.E43_splice	ITGB8_uc011jyh.1_Splice_Site|ITGB8_uc003sut.2_Splice_Site_p.E43_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CCTTCATTGCAGAAGACAATA	0.333		NA											12	5					0	0	0	0
AVL9	23080	broad.mit.edu	37	7	32598671	32598671	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:32598671A>T	uc003tcv.1	+	10	956	c.810A>T	c.(808-810)TCA>TCT	p.S270S	AVL9_uc011kai.1_Silent_p.S270S|AVL9_uc010kwj.1_Silent_p.S111S	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	270						integral to membrane					0						CTGATGTTTCACATACCAACT	0.463		NA											18	31					0	0	0	0
SUN3	256979	broad.mit.edu	37	7	48035729	48035729	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:48035729C>G	uc003tof.2	-	8	689	c.592G>C	c.(592-594)GAA>CAA	p.E198Q	SUN3_uc010kyq.2_Missense_Mutation_p.E98Q|SUN3_uc003tog.2_Missense_Mutation_p.E198Q|SUN3_uc011kcf.1_Missense_Mutation_p.E186Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	198	SUN.					integral to membrane				central_nervous_system(1)	1						GTCCCAGCTTCAATGATGGAG	0.303		NA											14	78					0	0	0	0
AUTS2	26053	broad.mit.edu	37	7	70255697	70255697	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:70255697G>A	uc003tvw.3	+	19	4238	c.3495G>A	c.(3493-3495)ACG>ACA	p.T1165T	AUTS2_uc003tvx.3_Silent_p.T1141T|AUTS2_uc011keg.1_Silent_p.T617T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1165	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGAGCACACGCGGCTCCACT	0.672		NA											14	29					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81335729	81335729	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:81335729T>A	uc003uhl.2	-	15	1796	c.1631A>T	c.(1630-1632)TAT>TTT	p.Y544F	HGF_uc003uhm.2_Missense_Mutation_p.Y539F	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	544	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CCAAGCTTCATAATCTTTCAA	0.338		NA											26	76					0	0	0	0
CALCR	799	broad.mit.edu	37	7	93108690	93108690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:93108690G>A	uc003umv.1	-	4	496	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.Q61*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q61*	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	61	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGGTAACTGCTGCATTCGG	0.378		NA											64	149					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100681637	100681637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:100681637A>G	uc003uxp.1	+	3	6993	c.6940A>G	c.(6940-6942)ACT>GCT	p.T2314A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2314	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|37.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACTTCTACTGAAGCCAG	0.483		NA											115	143					0	0	0	0
KCND2	3751	broad.mit.edu	37	7	119915648	119915648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:119915648C>G	uc003vjj.1	+	1	1927	c.962C>G	c.(961-963)GCC>GGC	p.A321G		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	321	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AAGAGTTGTGCCTCAGAATTG	0.512		NA											23	35					0	0	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:121671535C>T	uc003vjy.2	+	15	5483	c.5088C>T	c.(5086-5088)GTC>GTT	p.V1696V	PTPRZ1_uc003vjz.2_Silent_p.V836V|PTPRZ1_uc011knt.1_Silent_p.V286V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1696	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TAGATGATGTCGGAGCAATTC	0.313		NA											21	35					0	0	0	0
GPR37	2861	broad.mit.edu	37	7	124387345	124387345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:124387345C>T	uc003vli.2	-	2	1727	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	359	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						AGCACGGAAGCGGTCTATGCA	0.488		NA											6	38					0	0	0	0
ZYX	7791	broad.mit.edu	37	7	143079743	143079743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143079743G>A	uc003wcw.2	+	4	621	c.466G>A	c.(466-468)GAT>AAT	p.D156N	ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Missense_Mutation_p.D156N|ZYX_uc011kte.1_Intron|ZYX_uc011ktf.1_5'UTR	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	156					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTCACTGCTGGATGACATGAC	0.527		NA											104	147					0	0	0	0
OR2A2	442361	broad.mit.edu	37	7	143806846	143806846	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143806846C>A	uc011ktz.1	+	1	171	c.171C>A	c.(169-171)CCC>CCA	p.P57P		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TTCACACACCCATGTACTTCT	0.468		NA											104	130					4.98e-43	7.41e-43	1	0
MLL3	58508	broad.mit.edu	37	7	151945277	151945277	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:151945277A>C	uc003wla.2	-	14	2461	c.2242T>G	c.(2242-2244)TGT>GGT	p.C748G		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	748					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTTTCACACAACCCTCAATT	0.378		NA	N		medulloblastoma								4	186					0	0	0	0
MYOM2	9172	broad.mit.edu	37	8	2056622	2056622	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:2056622G>A	uc003wpx.3	+	24	3181	c.3043_splice	c.e24+1	p.T1015_splice	MYOM2_uc011kwi.1_Splice_Site_p.T440_splice	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAACCCCAGTAAGTAAGCC	0.473		NA											19	36					0	0	0	0
XPO7	23039	broad.mit.edu	37	8	21848388	21848388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:21848388A>G	uc003xaa.3	+	18	2101	c.1999A>G	c.(1999-2001)ACC>GCC	p.T667A	XPO7_uc010lti.2_Missense_Mutation_p.T676A|XPO7_uc010ltk.2_Missense_Mutation_p.T668A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	667					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGTCGGACTACCTTCTACAC	0.403		NA											34	118					0	0	0	0
PNMA2	10687	broad.mit.edu	37	8	26365820	26365820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:26365820G>A	uc003xez.2	-	3	1222	c.452C>T	c.(451-453)GCA>GTA	p.A151V		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	151					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggcgcatgtgccattgcctg	0		NA											10	36					0	0	0	0
HOOK3	84376	broad.mit.edu	37	8	42823227	42823227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:42823227G>A	uc003xpr.2	+	11	1234	c.992G>A	c.(991-993)GGT>GAT	p.G331D	HOOK3_uc010lxq.1_Missense_Mutation_p.G331D	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	331	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGACCTTGGTGATTTAAGG	0.358		NA	T	RET	papillary thyroid								19	40					0	0	0	0
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:48715931G>A	uc003xqi.2	-	71	9915	c.9858C>T	c.(9856-9858)TGC>TGT	p.C3286C	PRKDC_uc003xqj.2_Silent_p.C3286C|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512		NA						NHEJ					28	79					0	0	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578251	67578251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:67578251A>T	uc003xwn.2	-	1	1202	c.943T>A	c.(943-945)TCT>ACT	p.S315T	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	315	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATCACCAGAGCTTCTCATG	0.468		NA											32	54					0	0	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68184095	68184095	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:68184095T>A	uc003xxo.1	-	10	1804	c.1414A>T	c.(1414-1416)AGG>TGG	p.R472W		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	472					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCATTTGTCCTGAAAATAGGT	0.358		NA											8	41					0	0	0	0
C8orf34	116328	broad.mit.edu	37	8	69552738	69552738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:69552738G>T	uc010lyz.2	+	8	1024	c.975G>T	c.(973-975)AGG>AGT	p.R325S	C8orf34_uc003xyb.2_Missense_Mutation_p.R300S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	325					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGTTCAAGGTGTGCCAGGT	0.388		NA											24	45					7.88e-14	1.08e-13	1	0
KCNB2	9312	broad.mit.edu	37	8	73848742	73848742	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:73848742T>C	uc003xzb.2	+	3	1740	c.1152T>C	c.(1150-1152)TAT>TAC	p.Y384Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	384	Selectivity filter (By similarity).				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)			CTGTTGGCTATGGTGACATTT	0.453		NA											23	101					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764235	77764235	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:77764235A>T	uc003yav.2	+	10	5330	c.4943A>T	c.(4942-4944)CAA>CTA	p.Q1648L	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1693L|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1648L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1648	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCAGCACAAATTCAGATG	0.423		NA								HNSCC(33;0.089)			17	55					0	0	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365165	92365165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:92365165G>T	uc003yex.2	+	12	1533	c.1255G>T	c.(1255-1257)GGA>TGA	p.G419*	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.G419*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.G419*	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	419	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGGACTGAAGGGAATGCTAAT	0.313		NA											34	61					2.2e-31	3.26e-31	1	0
TP53INP1	94241	broad.mit.edu	37	8	95952351	95952351	+	Silent	SNP	C	C	T	rs141483665		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:95952351C>T	uc003yhg.2	-	3	594	c.210G>A	c.(208-210)CCG>CCA	p.P70P	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Silent_p.P70P	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptosis	PML body					0	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473		NA											20	20					0	0	0	0
LRP12	29967	broad.mit.edu	37	8	105510273	105510273	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:105510273A>T	uc003yma.2	-	5	602	c.507T>A	c.(505-507)GAT>GAA	p.D169E	LRP12_uc003ymb.2_Missense_Mutation_p.D150E|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	169	Extracellular (Potential).|LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACGAAACTGATCACAAGCAC	0.363		NA											27	45					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431467	110431467	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:110431467A>T	uc003yne.2	+	22	2606	c.2502A>T	c.(2500-2502)ACA>ACT	p.T834T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	834	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACACACATCTACAATCT	0.328		NA								HNSCC(38;0.096)			3	22					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139649040	139649040	+	Splice_Site	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:139649040T>G	uc003yvd.2	-	48	3949	c.3502_splice	c.e48-1	p.G1168_splice	COL22A1_uc011ljo.1_Splice_Site_p.G448_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGACTTCCCTTGAAAGGAAA	0.318		NA								HNSCC(7;0.00092)			58	132					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144940192	144940192	+	Silent	SNP	C	C	G	rs6982684		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144940192C>G	uc003zaa.1	-	2	15253	c.15240G>C	c.(15238-15240)ACG>ACC	p.T5080T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5080	Plectin 65.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.572		NA											5	26					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144995520	144995520	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144995520G>A	uc003zaf.1	-	32	9050	c.8880C>T	c.(8878-8880)CGC>CGT	p.R2960R	PLEC_uc003zab.1_Silent_p.R2823R|PLEC_uc003zac.1_Silent_p.R2827R|PLEC_uc003zad.2_Silent_p.R2823R|PLEC_uc003zae.1_Silent_p.R2791R|PLEC_uc003zag.1_Silent_p.R2801R|PLEC_uc003zah.2_Silent_p.R2809R|PLEC_uc003zaj.2_Silent_p.R2850R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2960	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCACGGGCACGCGGTGGCTGT	0.682		NA											12	101					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	5					0	0	0	0
RGP1	9827	broad.mit.edu	37	9	35750932	35750932	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:35750932G>T	uc011lpf.1	+	5	574	c.433G>T	c.(433-435)GTC>TTC	p.V145F	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.V185F	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	145										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCGTGTCAACTCCCC	0.562		NA											58	18					1.08e-31	1.6e-31	1	0
ROR2	4920	broad.mit.edu	37	9	94499675	94499675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:94499675G>A	uc004arj.1	-	5	819	c.620C>T	c.(619-621)ACA>ATA	p.T207I	ROR2_uc004ari.1_Missense_Mutation_p.T67I|ROR2_uc004ark.2_Missense_Mutation_p.T207I	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	207	FZ.|Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCTCCTACCTGTGATTCGGTT	0.522		NA											27	37					0	0	0	0
COL15A1	1306	broad.mit.edu	37	9	101800963	101800963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:101800963T>A	uc004azb.1	+	22	2629	c.2423T>A	c.(2422-2424)ATC>AAC	p.I808N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	808	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TTGATCAATATCACCCATGGA	0.478		NA											27	99					0	0	0	0
TEX10	54881	broad.mit.edu	37	9	103109584	103109584	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:103109584G>A	uc004bas.2	-	3	500	c.285C>T	c.(283-285)CAC>CAT	p.H95H	TEX10_uc011lvf.1_Silent_p.H30H|TEX10_uc011lvg.1_Silent_p.H98H|TEX10_uc011lvh.1_Silent_p.H30H|TEX10_uc004bat.2_Silent_p.H95H	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	95						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTTTGAAAGGTGTGCATCAA	0.388		NA											56	174					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:119567939G>A	uc004bjs.1	-	13	2469	c.2368C>T	c.(2368-2370)CAA>TAA	p.Q790*	ASTN2_uc004bjr.1_Nonsense_Mutation_p.Q786*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.Q739*	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	790	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ACTTGGCCTTGGTTCACATGC	0.498		NA											52	65					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120470905	120470905	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:120470905C>A	uc004bjz.2	+	2	449	c.158C>A	c.(157-159)CCC>CAC	p.P53H	TLR4_uc004bka.2_Missense_Mutation_p.P13H|TLR4_uc004bkb.2_Intron	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	53	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GACAACCTCCCCTTCTCAACC	0.433		NA											37	100					1.91e-15	2.66e-15	1	0
NUP214	8021	broad.mit.edu	37	9	134090708	134090708	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:134090708A>T	uc004cag.2	+	31	5813	c.5702A>T	c.(5701-5703)AAC>ATC	p.N1901I	NUP214_uc004cah.2_Missense_Mutation_p.N1891I|NUP214_uc004cai.2_Missense_Mutation_p.N1331I|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.N727I	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1901	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAACAAAAACCCATTCAGC	0.517		NA	T	DEK|SET|ABL1	AML|T-ALL								40	39					0	0	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273626	139273626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139273626C>T	uc004chh.2	-	21	2662	c.2653G>A	c.(2653-2655)GGC>AGC	p.G885S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	885					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCGGGGGCCGGTTGAAGCC	0.687		NA											5	5					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402542	139402542	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139402542C>G	uc004chz.2	-	21	3375	c.3375G>C	c.(3373-3375)GCG>GCC	p.A1125A	NOTCH1_uc004cia.1_Silent_p.A355A	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1125	Extracellular (Potential).|EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGTTGCCCGCGTCCACAC	0.677		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			7	33					0	0	0	0
NDOR1	27158	broad.mit.edu	37	9	140109611	140109611	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:140109611C>G	uc004clw.2	+	9	1241	c.1130C>G	c.(1129-1131)CCC>CGC	p.P377R	NDOR1_uc004clx.2_Missense_Mutation_p.P377R|NDOR1_uc011mes.1_Missense_Mutation_p.P377R|NDOR1_uc004cly.2_Missense_Mutation_p.P343R	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	377	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667		NA											8	10					0	0	0	0
GPR64	10149	broad.mit.edu	37	X	19022897	19022897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:19022897A>G	uc004cyx.2	-	23	2104	c.1940T>C	c.(1939-1941)CTT>CCT	p.L647P	GPR64_uc004cyy.2_Missense_Mutation_p.L644P|GPR64_uc004cyz.2_Missense_Mutation_p.L633P|GPR64_uc004czb.2_Missense_Mutation_p.L647P|GPR64_uc004czc.2_Missense_Mutation_p.L631P|GPR64_uc004czd.2_Missense_Mutation_p.L623P|GPR64_uc004cze.2_Missense_Mutation_p.L617P|GPR64_uc004czf.2_Missense_Mutation_p.L609P|GPR64_uc004cza.2_Missense_Mutation_p.L625P|GPR64_uc004cyw.2_Missense_Mutation_p.L631P|GPR64_uc010nfj.2_Missense_Mutation_p.L528P	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	647	Helical; Name=1; (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GTAGGTTACAAGAGTCACTGA	0.388		NA											55	30					0	0	0	0
FAM47C	442444	broad.mit.edu	37	X	37028482	37028482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:37028482C>T	uc004ddl.1	+	1	2013	c.1999C>T	c.(1999-2001)CCC>TCC	p.P667S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	667										ovary(3)	3						GTCCAGTCTCCCCCCGGAGCC	0.642		NA											14	9					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54492197	54492197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:54492197C>T	uc004dtg.2	-	7	2163	c.1429G>A	c.(1429-1431)GCC>ACC	p.A477T	FGD1_uc011moi.1_Missense_Mutation_p.A235T	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	477	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGCTCCACGGCCCGGTCAAAG	0.542		NA											17	4					0	0	0	0
STARD8	9754	broad.mit.edu	37	X	67938280	67938280	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:67938280C>A	uc004dxa.2	+	5	1656	c.1284C>A	c.(1282-1284)ACC>ACA	p.T428T	STARD8_uc004dxb.2_Silent_p.T508T|STARD8_uc004dxc.3_Silent_p.T428T	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	428					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						GGGAACCCACCTTTGCCTCTA	0.458		NA											6	6					5.18e-06	6.02e-06	1	0
KIAA2022	340533	broad.mit.edu	37	X	73962130	73962130	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:73962130G>T	uc004eby.2	-	3	2879	c.2262C>A	c.(2260-2262)TCC>TCA	p.S754S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TAGCCTTTGAGGATTGGTTTT	0.388		NA											21	12					5.26e-13	7.15e-13	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004022	75004022	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:75004022G>T	uc004ecj.1	-	1	1050	c.865C>A	c.(865-867)CTG>ATG	p.L289M		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	289										ovary(1)|skin(1)	2						TCACCTTCCAGGGCCTTATTA	0.473		NA											10	17					4.69e-08	5.8e-08	1	0
CXorf57	55086	broad.mit.edu	37	X	105882844	105882844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:105882844G>T	uc004emi.3	+	9	1812	c.1661G>T	c.(1660-1662)GGG>GTG	p.G554V	CXorf57_uc004emj.3_Intron	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	554										ovary(1)|lung(1)|breast(1)	3						GCAATTCAGGGGATAATTACT	0.423		NA											41	22					1.07e-22	1.55e-22	1	0
AMOT	154796	broad.mit.edu	37	X	112033827	112033827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:112033827C>A	uc004epr.2	-	7	2110	c.2110G>T	c.(2110-2112)GCT>TCT	p.A704S	AMOT_uc004eps.2_Missense_Mutation_p.A295S	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	704					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TACCTCTGAGCAGCCACAGTT	0.428		NA											77	48					9.61e-26	1.41e-25	1	0
DOCK11	139818	broad.mit.edu	37	X	117783069	117783069	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:117783069C>G	uc004eqp.2	+	41	4623	c.4560C>G	c.(4558-4560)ACC>ACG	p.T1520T	DOCK11_uc004eqq.2_Silent_p.T1299T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1520	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AAAGGAAAACCTTTTTGAGGA	0.358		NA											34	18					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995560	140995560	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995560T>C	uc004fbt.2	+	4	2656	c.2370T>C	c.(2368-2370)CTT>CTC	p.L790L	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	790							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGAGTCTTCTCCAAAGTT	0.567		NA								HNSCC(15;0.026)			69	37					0	0	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995929C>T	uc004fbt.2	+	4	3025	c.2739C>T	c.(2737-2739)GAC>GAT	p.D913D	MAGEC1_uc010nsl.1_Translation_Start_Site	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488		NA								HNSCC(15;0.026)			58	37					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625233	77625234	+	Frame_Shift_Ins	INS	-	-	C	rs140992315	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:77625233_77625234insC	uc001vkf.2	-	83	13796_13797	c.13705_13706insG	c.(13705-13707)GTTfs	p.V4569fs	MYCBP2_uc010aev.2_Frame_Shift_Ins_p.V3973fs|MYCBP2_uc001vke.2_Frame_Shift_Ins_p.V1186fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4569	B box-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACAGAAAAAAACAGCCACTGAA	0.381		NA											7	72	---	---	---	---	NA	NA	NA	NA
TGM1	7051	broad.mit.edu	37	14	24727794	24727795	+	In_Frame_Ins	INS	-	-	ATGTCC			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:24727794_24727795insATGTCC	uc001wod.2	-	8	1368_1369	c.1244_1245insGGACAT	c.(1243-1245)ATC>ATGGACATC	p.414_415insMD	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	414_415					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGTCGAAGTAGATGTCCATGGT	0.569		NA											12	85	---	---	---	---	NA	NA	NA	NA
APBA3	9546	broad.mit.edu	37	19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:3752611delC	uc002lyp.1	-	8	1467	c.1290delG	c.(1288-1290)GGGfs	p.G430fs	APBA3_uc002lyo.1_Frame_Shift_Del_p.G188fs	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	430	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746		NA											11	4	---	---	---	---	NA	NA	NA	NA
C19orf59	199675	broad.mit.edu	37	19	7743860	7743860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:7743860delA	uc002mhh.1	+	6	563	c.538delA	c.(538-540)AAAfs	p.K180fs	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	mast cell-expressed membrane protein 1	180	Extracellular (Potential).					integral to membrane				skin(1)	1						GGTGCTGCAGAAAATGCCACG	0.577		NA									OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---	NA	NA	NA	NA
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs138630543	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:146246596_146246597insT	uc003evx.3	-	4	504_505	c.116_117insA	c.(115-117)TACfs	p.Y39fs	PLSCR1_uc003evy.3_Frame_Shift_Ins_p.Y32fs|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Frame_Shift_Ins_p.Y39fs	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	39	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GGGGCCCAGGGTAGCCACTATA	0.5		NA											12	60	---	---	---	---	NA	NA	NA	NA
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:1957868_1957869insC	uc003gdz.3	+	15	3010_3011	c.2834_2835insC	c.(2833-2835)GGCfs	p.G945fs	WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51		NA	T	IGH@	MM								14	134	---	---	---	---	NA	NA	NA	NA
PCLO	27445	broad.mit.edu	37	7	82580192	82580192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:82580192delC	uc003uhx.2	-	6	10001	c.9712delG	c.(9712-9714)GAAfs	p.E3238fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.E3238fs|PCLO_uc010lec.2_Frame_Shift_Del_p.E203fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3169	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCTGACGTTCCCACTCCAAT	0.458		NA											41	59	---	---	---	---	NA	NA	NA	NA
