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
ACTRT2	140625	broad.mit.edu	37	1	2938694	2938694	+	Silent	SNP	C	C	T	rs17845890		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:2938694C>T	uc001ajz.2	+	1	649	c.444C>T	c.(442-444)GCC>GCT	p.A148A		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	148						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCTCTACGCCTCTGCCTGTG	0.622		NA											20	87					0	0	0	0
AJAP1	55966	broad.mit.edu	37	1	4715487	4715487	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:4715487T>C	uc001alm.1	+	1	383	c.2T>C	c.(1-3)ATG>ACG	p.M1T	AJAP1_uc001aln.2_Missense_Mutation_p.M1T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	1	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACGTGACCATGTGGATTCAA	0.731		NA											20	69					0	0	0	0
CROCC	9696	broad.mit.edu	37	1	17263291	17263291	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:17263291G>A	uc001azt.2	+	9	1185	c.1116G>A	c.(1114-1116)CGG>CGA	p.R372R	CROCC_uc009voy.1_Silent_p.R75R|CROCC_uc009voz.1_Silent_p.R135R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	372	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGCTGCGGGACAAGGTGC	0.677		NA											12	54					0	0	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:38227191C>T	uc009vvi.2	-	3	822	c.736G>A	c.(736-738)GGG>AGG	p.G246R	EPHA10_uc001cbw.3_Missense_Mutation_p.G246R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	246	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731		NA											25	27					0	0	0	0
RLF	6018	broad.mit.edu	37	1	40702667	40702667	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:40702667A>G	uc001cfc.3	+	8	2324	c.2293A>G	c.(2293-2295)AAG>GAG	p.K765E	RLF_uc001cfd.3_Missense_Mutation_p.K456E	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	765	C2H2-type 4.				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATAAACAAAAGCATGACGA	0.393		NA											46	194					0	0	0	0
C1orf123	54987	broad.mit.edu	37	1	53683848	53683848	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:53683848T>A	uc001cvd.2	-	5	299	c.257A>T	c.(256-258)TAC>TTC	p.Y86F	C1orf123_uc001cvc.2_Missense_Mutation_p.Y24F|C1orf123_uc001cve.2_Missense_Mutation_p.Y67F	NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	hypothetical protein LOC54987	86										pancreas(2)	2						ACTTACATTGTAAGGCTTGAT	0.488		NA											6	32					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55144987	55144987	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:55144987G>T	uc010ooe.1	+	12	2425	c.2101G>T	c.(2101-2103)GCC>TCC	p.A701S	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.A269S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.A219S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.A701S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	701						integral to membrane	binding				0						GCTGCTGGCCGCCCTGGAAGG	0.592		NA											39	197					6.24e-21	8.4e-21	1	0
LRRC7	57554	broad.mit.edu	37	1	70555457	70555457	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:70555457T>C	uc001dep.2	+	23	4416	c.4386T>C	c.(4384-4386)AGT>AGC	p.S1462S	LRRC7_uc009wbg.2_Silent_p.S746S|LRRC7_uc001deq.2_Silent_p.S656S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1462	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTAGTATCAGTGGTGGAATTA	0.299		NA											26	139					0	0	0	0
CRYZ	1429	broad.mit.edu	37	1	75172657	75172657	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:75172657T>A	uc001dgk.2	-	9	1259	c.754A>T	c.(754-756)ATT>TTT	p.I252F	CRYZ_uc001dgj.2_Missense_Mutation_p.I252F|CRYZ_uc001dgl.2_Missense_Mutation_p.I218F|CRYZ_uc001dgm.2_Missense_Mutation_p.I115F	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	252					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	TTTATTTCAATAGTACCTCTG	0.353		NA											55	264					0	0	0	0
CCDC18	343099	broad.mit.edu	37	1	93651989	93651989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:93651989G>A	uc001dpq.2	+	4	913	c.745G>A	c.(745-747)GTC>ATC	p.V249I		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	131	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGCTTGTTTGGTCACACAGAA	0.343		NA											29	78					0	0	0	0
IGSF3	3321	broad.mit.edu	37	1	117208931	117208931	+	Silent	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:117208931C>G	uc001egr.1	-	2	723	c.18G>C	c.(16-18)CCG>CCC	p.P6P	IGSF3_uc001egq.1_Silent_p.P6P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	6						integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTCAGCACCGGGAAAAAGC	0.493		NA											18	107					0	0	0	0
GJA8	2703	broad.mit.edu	37	1	147380566	147380566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:147380566G>A	uc001epu.1	+	2	547	c.484G>A	c.(484-486)GAA>AAA	p.E162K		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	162	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587		NA											51	180					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152280937	152280937	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152280937G>T	uc001ezu.1	-	3	6461	c.6425C>A	c.(6424-6426)CCG>CAG	p.P2142Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				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)			GCTTGGCCCCGGGTGTCCACG	0.577		NA							Ichthyosis				106	798					4.38e-64	6.1e-64	1	0
LCE1A	353131	broad.mit.edu	37	1	152800041	152800041	+	Silent	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152800041A>C	uc010pdw.1	+	1	93	c.93A>C	c.(91-93)CCA>CCC	p.P31P		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	31	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccccccaaagtgtcccc	0.433		NA											49	134					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155340386	155340386	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:155340386C>A	uc009wqq.2	-	12	7090	c.6610G>T	c.(6610-6612)GAT>TAT	p.D2204Y	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2199Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2204	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCCCACTATCCAGGTTCAGG	0.418		NA											58	189					9e-20	1.2e-19	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668318	176668318	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:176668318G>A	uc001gkz.2	+	8	3993	c.2829G>A	c.(2827-2829)ACG>ACA	p.T943T	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	943					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGAACATGACGGTCCCCTGCC	0.602		NA											50	152					0	0	0	0
LAMC1	3915	broad.mit.edu	37	1	183093839	183093839	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:183093839C>T	uc001gpy.3	+	14	2732	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	825	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGACTTTGCCGCCTGTGCC	0.507		NA											4	105					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214178607	214178607	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214178607G>A	uc001hkh.2	+	3	2097	c.1825G>A	c.(1825-1827)GAC>AAC	p.D609N		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	609	Prospero-type homeobox.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTACTTCTCCGACGTAAAGGT	0.378		NA											22	97					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214557343	214557343	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214557343G>C	uc001hkk.1	-	13	2126	c.1855C>G	c.(1855-1857)CAG>GAG	p.Q619E	PTPN14_uc010pty.1_Missense_Mutation_p.Q520E	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	619					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGAGAGACTGATGAACCACC	0.637		NA											24	65					0	0	0	0
MIA3	375056	broad.mit.edu	37	1	222803588	222803588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:222803588A>G	uc001hnl.2	+	4	3035	c.3026A>G	c.(3025-3027)AAT>AGT	p.N1009S	MIA3_uc009xea.1_Missense_Mutation_p.N845S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1009	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ATGAACGAAAATAACATATTT	0.433		NA											35	140					0	0	0	0
TRIM17	51127	broad.mit.edu	37	1	228596365	228596365	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:228596365T>C	uc001hsu.2	-	7	1356	c.971A>G	c.(970-972)GAG>GGG	p.E324G	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.E324G|TRIM17_uc001hsw.2_Missense_Mutation_p.E297G	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	324	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CCCACTGCCCTCCGGCGAAGA	0.637		NA											27	93					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237604656	237604656	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237604656G>C	uc001hyl.1	+	13	1163	c.1043G>C	c.(1042-1044)GGC>GCC	p.G348A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	348	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTAGATGGCATGGGAACA	0.398		NA											28	114					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237758918	237758918	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237758918A>T	uc001hyl.1	+	34	4677	c.4557A>T	c.(4555-4557)ACA>ACT	p.T1519T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1519	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGCTCACATTCATTGCCA	0.517		NA											10	51					0	0	0	0
OR2B11	127623	broad.mit.edu	37	1	247615247	247615247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:247615247G>T	uc010pyx.1	-	1	38	c.38C>A	c.(37-39)CCT>CAT	p.P13H		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAGGCTTTAGGGGAGTCCCC	0.493		NA											38	124					2.52e-25	3.42e-25	1	0
OR2L3	391192	broad.mit.edu	37	1	248224038	248224038	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:248224038C>A	uc001idx.1	+	1	55	c.55C>A	c.(55-57)CCA>ACA	p.P19T	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTCTTCCCACCATCAAGAAT	0.393		NA											98	436					7.8e-59	1.08e-58	1	0
PLCE1	51196	broad.mit.edu	37	10	95791310	95791310	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:95791310G>A	uc001kjk.2	+	2	1141	c.507G>A	c.(505-507)CAG>CAA	p.Q169Q	PLCE1_uc010qnx.1_Silent_p.Q169Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	169					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TAGGAAATCAGTCAGTGATCA	0.428		NA											62	80					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	106924096	106924096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:106924096G>A	uc001kyi.1	+	12	1995	c.1768G>A	c.(1768-1770)GGT>AGT	p.G590S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	590	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACTGATATTGGTGTGTTCAT	0.448		NA											32	45					0	0	0	0
FAM160B1	57700	broad.mit.edu	37	10	116602933	116602933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:116602933C>T	uc001lcb.2	+	6	1099	c.764C>T	c.(763-765)CCA>CTA	p.P255L	FAM160B1_uc001lcc.2_Missense_Mutation_p.P255L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	255										lung(1)	1						GTTGTTTGTCCAAATCAGGAT	0.413		NA											64	111					0	0	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351941	118351941	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:118351941C>T	uc001lco.1	+	4	236	c.218C>T	c.(217-219)TCT>TTT	p.S73F	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S73F|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.S73F|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	73					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		CTCCTCCTCTCTGATCCATCA	0.398		NA											76	107					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124339305	124339305	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124339305C>A	uc001lgk.1	+	10	997	c.891C>A	c.(889-891)GTC>GTA	p.V297V	DMBT1_uc001lgl.1_Silent_p.V297V|DMBT1_uc001lgm.1_Silent_p.V297V|DMBT1_uc009xzz.1_Silent_p.V297V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V149V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	297	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTCCTGGATGATG	0.597		NA											121	153					2.99e-63	4.15e-63	1	0
DMBT1	1755	broad.mit.edu	37	10	124351999	124351999	+	Silent	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124351999T>A	uc001lgk.1	+	20	2494	c.2388T>A	c.(2386-2388)GTT>GTA	p.V796V	DMBT1_uc001lgl.1_Silent_p.V786V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.V796V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V409V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	796	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTTCTGGATGATG	0.602		NA											7	283					0	0	0	0
OR52K2	119774	broad.mit.edu	37	11	4471232	4471232	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:4471232C>G	uc001lyz.1	+	1	663	c.663C>G	c.(661-663)ATC>ATG	p.I221M		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTTATATCTTTATTCTTC	0.483		NA											114	189					0	0	0	0
TRIM22	10346	broad.mit.edu	37	11	5730848	5730848	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:5730848C>T	uc001mbr.2	+	8	1744	c.1467C>T	c.(1465-1467)GTC>GTT	p.V489V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.V485V|TRIM22_uc010qzm.1_Silent_p.V317V|TRIM22_uc009yeu.2_Silent_p.V300V|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	489	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)		ACTGCCTAGTCCCCATGACTG	0.483		NA											51	131					0	0	0	0
STK33	65975	broad.mit.edu	37	11	8435138	8435138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:8435138C>A	uc001mgi.1	-	11	2167	c.1248G>T	c.(1246-1248)AAG>AAT	p.K416N	STK33_uc001mgj.1_Missense_Mutation_p.K416N|STK33_uc001mgk.1_Missense_Mutation_p.K416N|STK33_uc010rbn.1_Missense_Mutation_p.K375N|STK33_uc001mgl.3_Missense_Mutation_p.K229N	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	416						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACGGCTTATTCTTCTCTTCTG	0.403		NA											104	220					7.35e-47	1.01e-46	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077130	19077130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:19077130C>T	uc001mph.2	-	2	908	c.820G>A	c.(820-822)GCC>ACC	p.A274T		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	274	Helical; Name=7; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						ATGGGGTTGGCACTGCTGTTA	0.473		NA											36	81					0	0	0	0
CCDC73	493860	broad.mit.edu	37	11	32781750	32781750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:32781750T>A	uc001mtv.2	-	2	84	c.40A>T	c.(40-42)ACT>TCT	p.T14S	CCDC73_uc001mtw.1_Missense_Mutation_p.T14S|CCDC73_uc009yjt.2_Missense_Mutation_p.T14S	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	14										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					CTTTGAAGAGTAAAAGTAGAT	0.299		NA											55	124					0	0	0	0
OR4C12	283093	broad.mit.edu	37	11	50003946	50003946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:50003946A>C	uc010ria.1	-	1	92	c.92T>G	c.(91-93)GTT>GGT	p.V31G		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CATGTAAAGAACCAAAAATAC	0.413		NA											38	84					0	0	0	0
OR5L2	26338	broad.mit.edu	37	11	55595068	55595068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55595068C>T	uc001nhy.1	+	1	374	c.374C>T	c.(373-375)GCC>GTC	p.A125V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CGCTTTGTGGCCATCTGTAAC	0.527		NA								HNSCC(27;0.073)			81	248					0	0	0	0
OR5J2	282775	broad.mit.edu	37	11	55944902	55944902	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55944902A>C	uc010rjb.1	+	1	809	c.809A>C	c.(808-810)CAA>CCA	p.Q270P		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTTGTGGAACAAGAGAAAGTG	0.438		NA											28	138					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460712	66460712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:66460712G>A	uc001ojd.2	-	23	4871	c.4799C>T	c.(4798-4800)GCG>GTG	p.A1600V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCAGGCCTCCGCCTCGGCGGC	0.622		NA											32	111					0	0	0	0
TMEM135	65084	broad.mit.edu	37	11	86802426	86802426	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:86802426A>T	uc001pch.2	+	4	408	c.385A>T	c.(385-387)ATG>TTG	p.M129L	TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Missense_Mutation_p.M129L|TMEM135_uc001pcg.1_Missense_Mutation_p.M129L	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	129						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAATTTATATGGCCAACTT	0.279		NA											34	55					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9310409	9310409	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:9310409G>T	uc001qvl.2	-	27	3352	c.3323C>A	c.(3322-3324)TCC>TAC	p.S1108Y	PZP_uc009zgl.2_Missense_Mutation_p.S894Y	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AACATAGGCGGAGAGGGTCGC	0.428		NA											16	57					2.49e-13	3.15e-13	1	0
C12orf69	440087	broad.mit.edu	37	12	14959602	14959602	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:14959602C>A	uc001rck.1	-	2	86	c.13G>T	c.(13-15)GAC>TAC	p.D5Y	C12orf60_uc001rcj.3_Intron	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	hypothetical protein LOC440087	5						integral to membrane					0						TAAAGGAAGTCACTTTGGGCC	0.388		NA											34	170					4.66e-17	6.1e-17	1	0
STK38L	23012	broad.mit.edu	37	12	27467947	27467947	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:27467947G>A	uc001rhr.2	+	8	872	c.673_splice	c.e8-1	p.G225_splice	STK38L_uc001rhs.2_Splice_Site|STK38L_uc010sjm.1_Splice_Site_p.G132_splice|STK38L_uc010sjn.1_Splice_Site|STK38L_uc010sjo.1_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like						intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					TTTTTTTTTAGGGTCATGTAA	0.289		NA											4	109					0	0	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258621	40258621	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:40258621C>G	uc010skm.1	-	6	1313	c.1262G>C	c.(1261-1263)CGC>CCC	p.R421P	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.R68P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	421	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AAAAGTGATGCGTGGGGAAAC	0.408		NA								HNSCC(50;0.14)			28	148					0	0	0	0
SPATS2	65244	broad.mit.edu	37	12	49883256	49883256	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:49883256G>C	uc001rud.2	+	5	1103	c.114G>C	c.(112-114)GCG>GCC	p.A38A	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Silent_p.A38A|SPATS2_uc001ruf.2_Silent_p.A38A|SPATS2_uc001rug.2_Silent_p.A38A	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	38						cytoplasm				breast(1)	1						AGATAAATGCGGTACGTGCAA	0.373		NA											18	43					0	0	0	0
CNPY2	10330	broad.mit.edu	37	12	56708706	56708706	+	Missense_Mutation	SNP	C	C	G	rs79111613		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:56708706C>G	uc001sku.1	-	3	674	c.133G>C	c.(133-135)GTG>CTG	p.V45L	CNPY2_uc001skv.2_Missense_Mutation_p.V45L	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog precursor	45	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0						TTGGGGTCCACCTGGGCAATT	0.537		NA											6	172					0	0	0	0
TAC3	6866	broad.mit.edu	37	12	57409476	57409476	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:57409476G>T	uc001smp.2	-	2	266	c.106C>A	c.(106-108)CGC>AGC	p.R36S	TAC3_uc001smr.2_RNA|TAC3_uc001smq.2_RNA|TAC3_uc001smt.2_RNA|TAC3_uc001sms.2_RNA|TAC3_uc010sqy.1_RNA|TAC3_uc001smu.2_RNA|TAC3_uc001smv.2_RNA|TAC3_uc001smo.2_Missense_Mutation_p.R36S	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	tachykinin 3 precursor	36					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			ovary(1)|skin(1)	2						ACCTTGCTGCGGCCCCCGCCA	0.602		NA											17	153					1.56e-12	1.96e-12	1	0
OAS2	4939	broad.mit.edu	37	12	113444353	113444353	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:113444353G>T	uc001tuj.2	+	8	1744	c.1604G>T	c.(1603-1605)CGG>CTG	p.R535L	OAS2_uc001tui.1_Missense_Mutation_p.R535L	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	535	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						ATTCGCTCCCGGCCCACCAAA	0.463		NA											97	198					5.89e-56	8.15e-56	1	0
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:117465849C>T	uc001twg.1	+	11	1751	c.1669C>T	c.(1669-1671)CGC>TGC	p.R557C	FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	557							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622		NA											3	58					0	0	0	0
CIT	11113	broad.mit.edu	37	12	120195319	120195319	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:120195319G>C	uc001txi.1	-	21	2489	c.2436C>G	c.(2434-2436)CTC>CTG	p.L812L	CIT_uc001txh.1_Silent_p.L346L|CIT_uc001txj.1_Silent_p.L854L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	812	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGTTGCCTGAGTTCAGAAA	0.527		NA											36	192					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694087	129694087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:129694087G>T	uc009zyl.1	-	5	1749	c.1421C>A	c.(1420-1422)TCG>TAG	p.S474*		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	474	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.562		NA											7	58					0.00198382	0.00216214	1	0
ANKLE2	23141	broad.mit.edu	37	12	133331554	133331554	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:133331554C>G	uc001ukx.2	-	2	414	c.347G>C	c.(346-348)AGG>ACG	p.R116T	ANKLE2_uc001uky.3_Missense_Mutation_p.R54T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	116						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGAAGACAGCCTTCCTCCTTG	0.473		NA											44	79					0	0	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:49281382C>T	uc010acx.1	+	6	1112	c.429C>T	c.(427-429)CCC>CCT	p.P143P	CYSLTR2_uc010acy.1_Silent_p.P143P|CYSLTR2_uc010acz.1_Silent_p.P143P|CYSLTR2_uc010ada.1_Silent_p.P143P|CYSLTR2_uc010adb.1_Silent_p.P143P|CYSLTR2_uc010adc.1_Silent_p.P143P|CYSLTR2_uc010add.1_Silent_p.P143P|CYSLTR2_uc010acw.1_Silent_p.P143P|CYSLTR2_uc001vck.2_Silent_p.P143P	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143	Helical; Name=3; (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478		NA											60	160					0	0	0	0
THSD1	55901	broad.mit.edu	37	13	52971420	52971420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:52971420C>T	uc001vgo.2	-	3	1513	c.968G>A	c.(967-969)AGC>AAC	p.S323N	THSD1_uc001vgp.2_Missense_Mutation_p.S323N|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	323	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCTTCTGCTTGAAATGCC	0.378		NA											39	63					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:58208417C>T	uc001vhq.1	+	1	2629	c.1737C>T	c.(1735-1737)AAC>AAT	p.N579N	PCDH17_uc010aec.1_Silent_p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	579	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642		NA											14	51					0	0	0	0
TOX4	9878	broad.mit.edu	37	14	21957451	21957451	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:21957451C>G	uc001waz.2	+	5	802	c.699C>G	c.(697-699)TTC>TTG	p.F233L	TOX4_uc001way.2_Missense_Mutation_p.F103L|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.F210L|TOX4_uc010tlv.1_Missense_Mutation_p.F103L	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	233	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGCTTTATTCTTTCGTGATA	0.448		NA											30	405					0	0	0	0
FOXG1	2290	broad.mit.edu	37	14	29237742	29237742	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:29237742C>T	uc001wqe.2	+	1	1456	c.1257C>T	c.(1255-1257)CCC>CCT	p.P419P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	419					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACTTTTTCCCCCACGTCCCGC	0.687		NA											32	67					0	0	0	0
SSTR1	6751	broad.mit.edu	37	14	38678698	38678698	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:38678698C>A	uc001wul.1	+	3	721	c.104C>A	c.(103-105)GCG>GAG	p.A35E	SSTR1_uc010amu.1_RNA	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	35	Extracellular (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCCGGCGCTGCGGACGGCATG	0.697		NA											12	30					5.51e-06	6.35e-06	1	0
SEC23A	10484	broad.mit.edu	37	14	39517935	39517935	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:39517935T>A	uc001wup.1	-	15	1883	c.1660_splice	c.e15-1	p.C554_splice	SEC23A_uc010tqa.1_Splice_Site_p.C416_splice|SEC23A_uc010tqb.1_Splice_Site_p.C525_splice	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTCTGACACTAAATAAAATA	0.313		NA											12	71					0	0	0	0
LRFN5	145581	broad.mit.edu	37	14	42356462	42356462	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:42356462C>A	uc001wvm.2	+	3	1832	c.634C>A	c.(634-636)CCT>ACT	p.P212T	LRFN5_uc010ana.2_Missense_Mutation_p.P212T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	212	Extracellular (Potential).|LRR 7.					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)		GAAGCTACCACCTGACCCTCT	0.433		NA								HNSCC(30;0.082)			41	130					5.72e-15	7.33e-15	1	0
L2HGDH	79944	broad.mit.edu	37	14	50736024	50736024	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:50736024C>G	uc001wxu.2	-	7	842	c.763G>C	c.(763-765)GTT>CTT	p.V255L	L2HGDH_uc010tqn.1_Missense_Mutation_p.V255L|L2HGDH_uc010tqo.1_Missense_Mutation_p.V255L	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	255					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATGTCACAACATACTGACAT	0.418		NA											61	246					0	0	0	0
HEATR4	399671	broad.mit.edu	37	14	73985749	73985749	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:73985749A>T	uc010tub.1	-	5	1510	c.1188T>A	c.(1186-1188)AGT>AGA	p.S396R	HEATR4_uc010tua.1_Missense_Mutation_p.S349R	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCTGGGCACTCCACTTTT	0.468		NA											38	114					0	0	0	0
TTLL5	23093	broad.mit.edu	37	14	76249857	76249857	+	Silent	SNP	C	C	T	rs140291071	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:76249857C>T	uc001xrx.2	+	26	3175	c.2970C>T	c.(2968-2970)CCC>CCT	p.P990P	TTLL5_uc010ask.1_Silent_p.P1004P|TTLL5_uc001xrz.2_Silent_p.P565P|TTLL5_uc001xsa.2_Silent_p.P63P|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	990					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCGTCCCTCTTCAGCAA	0.512		NA											33	129					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	80328091	80328091	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:80328091C>T	uc001xun.2	+	17	3461	c.2970C>T	c.(2968-2970)GTC>GTT	p.V990V	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.V566V|NRXN3_uc010asw.2_Silent_p.V388V|NRXN3_uc001xur.3_Silent_p.V361V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1572	Helical; (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGATGGTCGTCGGCATTGTGG	0.607		NA											20	51					0	0	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:94750385G>A	uc001yct.2	-	5	1718	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	418					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453		NA											4	156					0	0	0	0
APBA2	321	broad.mit.edu	37	15	29386517	29386517	+	Splice_Site	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:29386517G>T	uc001zck.2	+	7	1458	c.1251_splice	c.e7+1	p.A417_splice	APBA2_uc010azj.2_Intron|APBA2_uc010uat.1_Intron|APBA2_uc001zcl.2_Intron|APBA2_uc001zcm.1_Intron	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,						nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAAAAAGCGGTGTGTAGGGC	0.517		NA											42	114					1.87e-21	2.52e-21	1	0
AQP9	366	broad.mit.edu	37	15	58471405	58471405	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:58471405G>C	uc002aez.2	+	5	931	c.574G>C	c.(574-576)GAG>CAG	p.E192Q	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.E127Q	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	192	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		CAGAGGCCTAGAGCCCATTGC	0.552		NA											14	65					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	64041644	64041644	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:64041644C>A	uc002amp.2	-	10	2289	c.2141G>T	c.(2140-2142)GGC>GTC	p.G714V	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	714	RCC1 7.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GCCATCTAAGCCACTCACTTT	0.428		NA											74	128					6.64e-20	8.9e-20	1	0
MSLN	10232	broad.mit.edu	37	16	815291	815291	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:815291G>A	uc002cjw.1	+	8	743	c.692G>A	c.(691-693)GGA>GAA	p.G231E	MSLN_uc002cjt.1_Missense_Mutation_p.G231E|MSLN_uc002cju.1_Missense_Mutation_p.G231E|MSLN_uc010brd.1_Missense_Mutation_p.G230E|MSLN_uc002cjv.1_Missense_Mutation_p.G231E|MSLN_uc002cjx.1_Missense_Mutation_p.G231E|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	231					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				CAGGGCGGGGGACCCCCCTAC	0.692		NA											6	6					0	0	0	0
ADCY7	113	broad.mit.edu	37	16	50332901	50332901	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:50332901G>C	uc002egd.1	+	7	1303	c.1035G>C	c.(1033-1035)CGG>CGC	p.R345R	ADCY7_uc002egb.1_Silent_p.R345R|ADCY7_uc002egc.1_Silent_p.R345R	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	345	Cytoplasmic (Potential).|Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCACGCCCGGAACTGCGTGA	0.637		NA											19	81					0	0	0	0
GPR114	221188	broad.mit.edu	37	16	57597828	57597828	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:57597828C>T	uc002elx.3	+	5	451	c.366C>T	c.(364-366)TGC>TGT	p.C122C	GPR114_uc010vhr.1_Silent_p.C122C|GPR114_uc002ely.2_Silent_p.C122C	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	122	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GGGACGCCTGCAAGACCCGCC	0.637		NA											41	106					0	0	0	0
CDH11	1009	broad.mit.edu	37	16	65026867	65026867	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:65026867C>A	uc002eoi.2	-	5	1028	c.594G>T	c.(592-594)GTG>GTT	p.V198V	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.V198V|CDH11_uc010vin.1_Silent_p.V72V	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	198	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGATACTGTACACTAACTTGG	0.423		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	119					6.36e-07	7.48e-07	1	0
CHTF8	54921	broad.mit.edu	37	16	69155027	69155027	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:69155027C>A	uc002ewn.1	-	3	171	c.70G>T	c.(70-72)GGG>TGG	p.G24W	CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Missense_Mutation_p.G5W|CHTF8_uc002ewp.1_Missense_Mutation_p.G24W	NM_001040146	NP_001035236	P0CG13	CTF8_HUMAN	chromosome transmission fidelity factor 8	24					cell cycle|DNA replication	nucleus	DNA binding				0						TCGATCTCCCCCTGTAGCTCC	0.542		NA											36	253					6.97e-18	9.2e-18	1	0
HYDIN	54768	broad.mit.edu	37	16	70863519	70863519	+	Splice_Site	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:70863519A>T	uc002ezr.2	-	81	14237	c.14109_splice	c.e81+1	p.Q4703_splice	HYDIN_uc010cfy.2_Splice_Site	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a											ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ACCTCAGTCTACCTGGTGCTT	0.498		NA											13	61					0	0	0	0
ZFPM1	161882	broad.mit.edu	37	16	88552448	88552448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:88552448G>A	uc002fkv.2	+	2	175	c.142G>A	c.(142-144)GCA>ACA	p.A48T		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	48					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCTCCCAGCGCAGGTGAGTC	0.642		NA											7	33					0	0	0	0
PER1	5187	broad.mit.edu	37	17	8044393	8044393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8044393G>A	uc002gkd.2	-	23	4104	c.3866C>T	c.(3865-3867)ACC>ATC	p.T1289I	PER1_uc010cns.2_Missense_Mutation_p.T163I|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1289	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						AGTCTAGCTGGTGCAGTTTCC	0.542		NA	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					7	297					0	0	0	0
AURKB	9212	broad.mit.edu	37	17	8111074	8111074	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8111074A>G	uc002gkm.2	-	3	194	c.133T>C	c.(133-135)TCC>CCC	p.S45P	AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkn.2_Missense_Mutation_p.S45P|AURKB_uc010vuu.1_Missense_Mutation_p.S4P|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						TGGACATTGGAGCGGCTCATG	0.612		NA											16	48					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18046140	18046140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18046140C>G	uc010vxh.1	+	24	6234	c.5896C>G	c.(5896-5898)CGA>GGA	p.R1966G		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1966	IQ 3.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGTGAGCCGCCGACGCTATCT	0.527		NA											4	33					0	0	0	0
SMCR7	125170	broad.mit.edu	37	17	18166425	18166425	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18166425G>T	uc002gst.2	+	3	384	c.173G>T	c.(172-174)CGG>CTG	p.R58L	SMCR7_uc002gsu.2_Missense_Mutation_p.R58L|SMCR7_uc010vxq.1_Missense_Mutation_p.R69L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	58						integral to membrane	protein binding				0	all_neural(463;0.228)					ACTAGCCCGCGGGATGAGGAT	0.577		NA											16	116					2.39e-15	3.09e-15	1	0
RNF112	7732	broad.mit.edu	37	17	19315865	19315865	+	Silent	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:19315865G>T	uc010vyw.1	+	3	349	c.150G>T	c.(148-150)GCG>GCT	p.A50A	RNF112_uc010vyu.1_Silent_p.A50A|RNF112_uc010vyv.1_Silent_p.A50A|RNF112_uc010vyx.1_Silent_p.A2A	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	50							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						AGCCCATGGCGCCCCGGGAGC	0.617		NA											9	42					4.69e-08	5.55e-08	1	0
BLMH	642	broad.mit.edu	37	17	28601109	28601109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:28601109A>T	uc002hez.1	-	7	989	c.752T>A	c.(751-753)TTG>TAG	p.L251*	BLMH_uc010wbn.1_Nonsense_Mutation_p.L164*	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	251					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						GTAAAACTCCAAGGGTGTTAT	0.428		NA											39	126					0	0	0	0
TMEM98	26022	broad.mit.edu	37	17	31267870	31267870	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:31267870G>A	uc002hhq.2	+	8	998	c.540G>A	c.(538-540)ACG>ACA	p.T180T	TMEM98_uc002hhr.2_Silent_p.T180T	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCCATCTGACGGGAGGCCTGG	0.547		NA											32	144					0	0	0	0
CCL16	6360	broad.mit.edu	37	17	34308415	34308415	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:34308415G>A	uc002hkl.2	-	1	109	c.42C>T	c.(40-42)ATC>ATT	p.I14I	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	14					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAATGATAAGGATGAGGACAA	0.557		NA											8	31					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41246660	41246660	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:41246660T>C	uc002icq.2	-	10	1120	c.888A>G	c.(886-888)AGA>AGG	p.R296R	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.R225R|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.R249R|BRCA1_uc002ict.2_Silent_p.R296R|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.R296R|BRCA1_uc002ide.1_Silent_p.R127R|BRCA1_uc010cyy.1_Silent_p.R296R|BRCA1_uc010whs.1_Silent_p.R296R|BRCA1_uc010cyz.2_Silent_p.R249R|BRCA1_uc010cza.2_Silent_p.R270R|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	296					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTACATTCATTCTGTCTTTAG	0.408		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			52	145					0	0	0	0
COL1A1	1277	broad.mit.edu	37	17	48278851	48278851	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:48278851C>A	uc002iqm.2	-	1	150	c.24G>T	c.(22-24)CGG>CGT	p.R8R		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	8					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGAGCAGGAGCCGGAGGTCCA	0.592		NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						9	52					0.00448238	0.00487746	1	0
MPO	4353	broad.mit.edu	37	17	56348209	56348209	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:56348209G>C	uc002ivu.1	-	12	2223	c.2046C>G	c.(2044-2046)AAC>AAG	p.N682K		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	682					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ACACACCCTCGTTCTCCCACC	0.577		NA											7	109					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65174991	65174991	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:65174991C>A	uc010wqk.1	-	13	1401	c.1214G>T	c.(1213-1215)CGT>CTT	p.R405L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R405L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348		NA											17	141					1.34e-09	1.62e-09	1	0
KLHL14	57565	broad.mit.edu	37	18	30254696	30254696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:30254696C>T	uc002kxm.1	-	9	2199	c.1811G>A	c.(1810-1812)GGA>GAA	p.G604E	KLHL14_uc010dmd.1_Missense_Mutation_p.G153E	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	604	Kelch 6.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						TGCTACATCTCCTTCGAGTTC	0.468		NA											74	174					0	0	0	0
ZNF516	9658	broad.mit.edu	37	18	74154630	74154630	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:74154630C>A	uc010dqx.1	-	2	616	c.381G>T	c.(379-381)CTG>CTT	p.L127L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCGTTCAGCAGCCGGTTGC	0.751		NA											5	6					5.18e-06	5.99e-06	1	0
ZNF14	7561	broad.mit.edu	37	19	19822314	19822314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:19822314A>T	uc002nnk.1	-	4	1930	c.1776T>A	c.(1774-1776)TGT>TGA	p.C592*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	592	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				AGGCTTTCCCACATTGTTTAC	0.383		NA											50	74					0	0	0	0
NUP62	23636	broad.mit.edu	37	19	50412642	50412642	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:50412642C>T	uc002pqx.2	-	2	527	c.423G>A	c.(421-423)GTG>GTA	p.V141V	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.V141V|NUP62_uc002pqz.2_Silent_p.V141V|NUP62_uc002pra.2_Silent_p.V141V|NUP62_uc002prb.2_Silent_p.V141V|NUP62_uc002prc.2_Silent_p.V141V	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	141	15 X 9 AA approximate repeats.|Thr-rich.|9.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGCCAAACACAAAGCCGG	0.602		NA											11	108					0	0	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020919	51020919	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:51020919C>A	uc002pss.2	-	3	2188	c.2051G>T	c.(2050-2052)GGG>GTG	p.G684V	ASPDH_uc002psr.3_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	684	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTTTGCCCCCGCAGCCCCC	0.627		NA											13	19					0.000151284	0.000169509	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733088	56733088	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:56733088G>A	uc002qmq.2	-	5	1513	c.1347C>T	c.(1345-1347)TTC>TTT	p.F449F	ZSCAN5A_uc010ygi.1_Silent_p.F332F|ZSCAN5A_uc002qmr.2_Silent_p.F449F|ZSCAN5A_uc002qms.1_Silent_p.F448F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	449	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CCCTGTAGGTGAAAACTTTCT	0.507		NA											27	79					0	0	0	0
APOB	338	broad.mit.edu	37	2	21245717	21245717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:21245717C>A	uc002red.2	-	18	2930	c.2802G>T	c.(2800-2802)AAG>AAT	p.K934N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	934	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGCAGCTTGACTGGTC	0.478		NA											18	55					6.94e-10	8.51e-10	1	0
THADA	63892	broad.mit.edu	37	2	43776495	43776495	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:43776495C>A	uc002rsw.3	-	20	3312	c.2960G>T	c.(2959-2961)CGC>CTC	p.R987L	THADA_uc010far.2_Missense_Mutation_p.R256L|THADA_uc002rsx.3_Missense_Mutation_p.R987L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.R696L|THADA_uc010fat.1_Missense_Mutation_p.R134L|THADA_uc002rta.2_Missense_Mutation_p.R697L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	987							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATCTGTAAGCGGCTTGCTGA	0.383		NA											3	11					0.004672	0.00501944	1	0
NRXN1	9378	broad.mit.edu	37	2	50847323	50847323	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:50847323T>A	uc010fbq.2	-	8	2756	c.1279_splice	c.e8-1	p.V427_splice	NRXN1_uc002rxb.3_Splice_Site_p.V59_splice|NRXN1_uc002rxe.3_Splice_Site_p.V387_splice|NRXN1_uc002rxc.1_Splice_Site	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor						angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTGTCACCTAGATAACAAA	0.388		NA											3	42					0	0	0	0
USP34	9736	broad.mit.edu	37	2	61508321	61508321	+	Silent	SNP	C	C	T	rs4645002		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:61508321C>T	uc002sbe.2	-	38	5077	c.5055G>A	c.(5053-5055)CTG>CTA	p.L1685L	USP34_uc002sbf.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1685					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTCCTCCATCCAGCCCTGACA	0.403		NA											9	32					0	0	0	0
AFTPH	54812	broad.mit.edu	37	2	64780055	64780055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:64780055G>T	uc002sdc.2	+	1	1479	c.1447G>T	c.(1447-1449)GAT>TAT	p.D483Y	AFTPH_uc002scz.2_Missense_Mutation_p.D483Y|AFTPH_uc002sda.2_Missense_Mutation_p.D483Y|AFTPH_uc002sdb.2_Missense_Mutation_p.D483Y	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	483					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						AGAATTTGGGGATATAAATGC	0.368		NA											33	172					3.33e-15	4.3e-15	1	0
STAMBP	10617	broad.mit.edu	37	2	74089382	74089382	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:74089382G>A	uc002sjs.2	+	10	1321	c.1271G>A	c.(1270-1272)CGA>CAA	p.R424Q	STAMBP_uc002sjt.2_Missense_Mutation_p.R424Q|STAMBP_uc002sju.2_Missense_Mutation_p.R424Q|STAMBP_uc002sjv.2_Missense_Mutation_p.R424Q	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	424					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						ACAGACCTTCGATGAGCGTTT	0.423		NA											16	96					0	0	0	0
REG3G	130120	broad.mit.edu	37	2	79254986	79254986	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:79254986T>C	uc002snw.2	+	5	472	c.387T>C	c.(385-387)AAT>AAC	p.N129N	REG3G_uc002snx.2_Silent_p.N129N|REG3G_uc010ffu.2_Silent_p.N83N	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	129	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						ATGTGATGAATTACTTTGCAT	0.507		NA											34	169					0	0	0	0
VWA3B	200403	broad.mit.edu	37	2	98828426	98828426	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:98828426A>T	uc002syo.2	+	13	2035	c.1771A>T	c.(1771-1773)AAA>TAA	p.K591*	VWA3B_uc010yvh.1_Nonsense_Mutation_p.K441*|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Nonsense_Mutation_p.K110*|VWA3B_uc002sym.2_Nonsense_Mutation_p.K591*|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Nonsense_Mutation_p.K248*|VWA3B_uc002syp.1_5'UTR|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	591	VWFA.									ovary(3)|large_intestine(2)|skin(1)	6						GAGTGCCCTGAAAACTGCTTT	0.443		NA											28	98					0	0	0	0
CHST10	9486	broad.mit.edu	37	2	101014428	101014428	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:101014428G>C	uc002tam.2	-	5	728	c.369C>G	c.(367-369)TTC>TTG	p.F123L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	123	Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						GAGTCTGGCAGAAAAGAATCT	0.493		NA											27	99					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166848385	166848385	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:166848385C>T	uc010zcz.1	-	26	5385	c.5367G>A	c.(5365-5367)CTG>CTA	p.L1789L		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1800	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCCTCACTCAGAGGCTCTG	0.433		NA											33	154					0	0	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169699618	169699618	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:169699618C>T	uc002ueg.2	+	8	625	c.621C>T	c.(619-621)AAC>AAT	p.N207N	NOSTRIN_uc002uef.2_Silent_p.N207N|NOSTRIN_uc002uei.2_Silent_p.N90N|NOSTRIN_uc010fpu.2_Silent_p.N179N|NOSTRIN_uc002ueh.2_Silent_p.N129N|NOSTRIN_uc002uej.2_Silent_p.N90N	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	207	Potential.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						CACTAGAGAACTGCTACCAGG	0.333		NA											11	54					0	0	0	0
CHN1	1123	broad.mit.edu	37	2	175666459	175666459	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:175666459C>G	uc002uji.2	-	12	1714	c.1184G>C	c.(1183-1185)CGG>CCG	p.R395P	CHN1_uc010zeq.1_Missense_Mutation_p.R369P|CHN1_uc002ujj.2_Missense_Mutation_p.R170P|CHN1_uc002ujg.2_Missense_Mutation_p.R270P	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	395	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R395Q(1)		ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATGAGGTACCGGAGGGTTTC	0.413		NA	T	TAF15	extraskeletal myxoid chondrosarcoma								44	143					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179447313	179447313	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179447313G>C	uc010zfg.1	-	263	58390	c.58166C>G	c.(58165-58167)CCG>CGG	p.P19389R	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13084R|TTN_uc010zfi.1_Missense_Mutation_p.P13017R|TTN_uc010zfj.1_Missense_Mutation_p.P12892R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20316							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)			TGGAGGACCCGGTTTATCTGA	0.313		NA											6	47					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179590124	179590124	+	Missense_Mutation	SNP	C	C	G	rs2742326		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179590124C>G	uc010zfg.1	-	68	17299	c.17075G>C	c.(17074-17076)AGG>ACG	p.R5692T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2353T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			CATGTTCTCCCTCATTCCACC	0.338		NA											8	12					0	0	0	0
KLF7	8609	broad.mit.edu	37	2	207953303	207953303	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:207953303C>T	uc002vbz.1	-	3	1058	c.736G>A	c.(736-738)GAG>AAG	p.E246K	KLF7_uc002vca.1_Silent_p.V178V|KLF7_uc010zix.1_Missense_Mutation_p.E218K	NM_003709	NP_003700	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	246					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			central_nervous_system(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TAAGGCTTCTCACCTGCAAGA	0.547		NA											20	78					0	0	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209169573	209169573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:209169573C>G	uc002vcz.2	+	12	1630	c.1472C>G	c.(1471-1473)TCT>TGT	p.S491C	PIKFYVE_uc010fun.1_Missense_Mutation_p.S172C|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S394C|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S491C|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S405C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	491					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CTAAAAGATTCTGCCAGTCCT	0.468		NA											12	116					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220312735	220312735	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:220312735C>T	uc010fwg.2	+	4	855	c.855C>T	c.(853-855)GAC>GAT	p.D285D	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	285	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGAGCCCGACCTTCAGCCTC	0.672		NA											12	34					0	0	0	0
USP40	55230	broad.mit.edu	37	2	234465564	234465564	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:234465564C>A	uc010zmu.1	-	5	601	c.483G>T	c.(481-483)CTG>CTT	p.L161L	USP40_uc010zmr.1_Silent_p.L173L			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	161					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCATGGTACAGACGATAGA	0.403		NA											21	65					7.42e-09	8.87e-09	1	0
CST7	8530	broad.mit.edu	37	20	24937978	24937978	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:24937978A>G	uc002wtx.1	+	2	402	c.192A>G	c.(190-192)ATA>ATG	p.I64M		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	42					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						CTAAAACAATAAAGACCAATG	0.458		NA											97	312					0	0	0	0
C20orf11	54994	broad.mit.edu	37	20	61572952	61572952	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:61572952T>A	uc002ydy.2	+	2	275	c.98T>A	c.(97-99)ATC>AAC	p.I33N		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	33	LisH.					nucleus	protein binding				0	Breast(26;5.68e-08)					AACCGCCTCATCATGAACTAC	0.438		NA											26	80					0	0	0	0
MYO18B	84700	broad.mit.edu	37	22	26164925	26164925	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr22:26164925A>G	uc003abz.1	+	4	1292	c.1042A>G	c.(1042-1044)ACA>GCA	p.T348A	MYO18B_uc003aca.1_Missense_Mutation_p.T229A|MYO18B_uc010guy.1_Missense_Mutation_p.T229A|MYO18B_uc010guz.1_Missense_Mutation_p.T229A|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	348						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGCAGAGAAGACAGGTGAGCC	0.547		NA											7	18					0	0	0	0
CHL1	10752	broad.mit.edu	37	3	404935	404935	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:404935G>C	uc003bou.2	+	13	1677	c.1406G>C	c.(1405-1407)AGG>ACG	p.R469T	CHL1_uc003bot.2_Missense_Mutation_p.R485T|CHL1_uc003bow.1_Missense_Mutation_p.R469T|CHL1_uc011asi.1_Missense_Mutation_p.R485T	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	469	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428		NA											20	60					0	0	0	0
RAD18	56852	broad.mit.edu	37	3	8944189	8944189	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:8944189C>A	uc003brd.2	-	10	1120	c.1043G>T	c.(1042-1044)AGT>ATT	p.S348I	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	348					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGAAATTCACTCTTATGTTT	0.333		NA						Rad6_pathway					33	93					2.19e-23	2.98e-23	1	0
ARPP21	10777	broad.mit.edu	37	3	35748546	35748546	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:35748546A>T	uc003cgb.2	+	10	1031	c.767A>T	c.(766-768)AAC>ATC	p.N256I	ARPP21_uc003cga.2_Missense_Mutation_p.N256I|ARPP21_uc011axy.1_Missense_Mutation_p.N256I|ARPP21_uc003cgf.2_Missense_Mutation_p.N92I	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	256						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AAGCGAGATAACTCTAGTATT	0.398		NA											36	71					0	0	0	0
VILL	50853	broad.mit.edu	37	3	38035866	38035866	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:38035866C>A	uc003chj.2	+	4	536	c.250C>A	c.(250-252)CAG>AAG	p.Q84K	VILL_uc003chk.1_Missense_Mutation_p.Q84K|VILL_uc003chl.2_Missense_Mutation_p.Q84K|VILL_uc010hgu.2_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	84					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCGCCTACAGGACGAGCT	0.701		NA											14	24					1.05e-09	1.28e-09	1	0
NSUN3	63899	broad.mit.edu	37	3	93781974	93781974	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:93781974C>T	uc003drl.1	+	1	120	c.4C>T	c.(4-6)CTG>TTG	p.L2L	DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'UTR|NSUN3_uc003drk.2_RNA	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	2							methyltransferase activity			skin(1)	1						CGGGACAATGCTGACCCAGGT	0.572		NA											55	186					0	0	0	0
DZIP3	9666	broad.mit.edu	37	3	108403092	108403092	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:108403092G>C	uc003dxd.2	+	27	3335	c.2913G>C	c.(2911-2913)GTG>GTC	p.V971V	DZIP3_uc003dxf.1_Silent_p.V971V|DZIP3_uc011bhm.1_Silent_p.V422V	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	971					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GACCTCTTGTGAAAGAATCTT	0.413		NA											117	417					0	0	0	0
FBXO40	51725	broad.mit.edu	37	3	121340297	121340297	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:121340297C>A	uc003eeg.2	+	3	231	c.21C>A	c.(19-21)TCC>TCA	p.S7S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	7					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CCCGCAGATCCCCGCCAGGGC	0.532		NA											37	235					2.47e-13	3.14e-13	1	0
CCDC14	64770	broad.mit.edu	37	3	123634533	123634533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:123634533G>A	uc011bjx.1	-	13	2046	c.1955C>T	c.(1954-1956)TCC>TTC	p.S652F	CCDC14_uc003egv.3_Missense_Mutation_p.S293F|CCDC14_uc003egx.3_Missense_Mutation_p.S452F|CCDC14_uc010hrt.2_Missense_Mutation_p.S611F|CCDC14_uc003egy.3_Missense_Mutation_p.S452F|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	652						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383		NA											70	187					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	151094808	151094808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:151094808C>G	uc003eyp.2	+	28	4091	c.4053C>G	c.(4051-4053)AAC>AAG	p.N1351K	MED12L_uc011bnz.1_Missense_Mutation_p.N1211K|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N514K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGAACAACTTACTGGACA	0.398		NA											22	82					0	0	0	0
TIPARP	25976	broad.mit.edu	37	3	156411959	156411959	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156411959A>T	uc003fav.2	+	3	1316	c.1068A>T	c.(1066-1068)GGA>GGT	p.G356G	TIPARP_uc003faw.2_Silent_p.G356G	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	356	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCACTTTGGATGGAGAGAGT	0.373		NA											69	225					0	0	0	0
LEKR1	389170	broad.mit.edu	37	3	156710895	156710895	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156710895C>T	uc003fba.1	+	10	1361	c.26C>T	c.(25-27)TCT>TTT	p.S9F		NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	70											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGAAGACTCTTTAATGACT	0.318		NA											22	87					0	0	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905718	164905718	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164905718G>A	uc003fej.3	-	2	3345	c.2901C>T	c.(2899-2901)CTC>CTT	p.L967L	SLITRK3_uc003fek.2_Silent_p.L967L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	967	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCAGGACTTCGAGGTAATCCG	0.388		NA								HNSCC(40;0.11)			79	270					0	0	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906404	164906404	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164906404C>T	uc003fej.3	-	2	2659	c.2215G>A	c.(2215-2217)GTG>ATG	p.V739M	SLITRK3_uc003fek.2_Missense_Mutation_p.V739M	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	739	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TACTCATACACATGACCCACG	0.458		NA								HNSCC(40;0.11)			43	112					0	0	0	0
MFN1	55669	broad.mit.edu	37	3	179095193	179095193	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:179095193C>T	uc003fjs.2	+	12	1412	c.1286C>T	c.(1285-1287)TCA>TTA	p.S429L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.S457L|MFN1_uc010hxc.2_Missense_Mutation_p.S282L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	429	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATTTTGTTCAGAGTTTCAT	0.264		NA											32	123					0	0	0	0
ATP11B	23200	broad.mit.edu	37	3	182602582	182602582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:182602582G>C	uc003flb.2	+	22	2808	c.2551G>C	c.(2551-2553)GAC>CAC	p.D851H	ATP11B_uc003flc.2_Missense_Mutation_p.D435H|ATP11B_uc011bqm.1_Missense_Mutation_p.D155H|ATP11B_uc010hxf.1_Missense_Mutation_p.D13H	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	851	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAGAAACAGTGACTATGCAAT	0.318		NA											27	85					0	0	0	0
FETUB	26998	broad.mit.edu	37	3	186358267	186358267	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:186358267C>T	uc010hyq.2	+	2	279	c.18C>T	c.(16-18)CCC>CCT	p.P6P	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.P6P|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Silent_p.P6P|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Silent_p.P6P	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	6						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGCTCCTTCCCCTGGCACTCT	0.597		NA											65	391					0	0	0	0
ZNF595	152687	broad.mit.edu	37	4	59413	59413	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:59413G>T	uc003fzv.1	+	2	250	c.94G>T	c.(94-96)GTG>TTG	p.V32L	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.V32L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	32					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTATAGAGATGTGATGTTGGA	0.433		NA											43	546					2.25e-16	2.93e-16	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182340	57182340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:57182340G>A	uc003hbk.2	+	8	3063	c.2672G>A	c.(2671-2673)GGA>GAA	p.G891E	KIAA1211_uc010iha.2_Missense_Mutation_p.G884E|KIAA1211_uc011bzz.1_Missense_Mutation_p.G801E|KIAA1211_uc003hbm.1_Missense_Mutation_p.G777E	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	891										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGCGCTCGTGGAGAGAAAGAG	0.627		NA											7	35					0	0	0	0
SMR3A	26952	broad.mit.edu	37	4	71232413	71232413	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:71232413C>A	uc003hfg.1	+	3	188	c.107C>A	c.(106-108)GCT>GAT	p.A36D	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	36	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				GGACCACTGGCTCCTCCTCCT	0.488		NA											46	162					1.19e-25	1.63e-25	1	0
NHEDC2	133308	broad.mit.edu	37	4	103988651	103988651	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:103988651C>A	uc003hwx.3	-	2	929	c.57G>T	c.(55-57)ATG>ATT	p.M19I	NHEDC2_uc003hwy.2_Missense_Mutation_p.M19I|NHEDC2_uc011cew.1_Missense_Mutation_p.M19I|NHEDC2_uc011cex.1_Missense_Mutation_p.M19I|NHEDC2_uc011cey.1_Missense_Mutation_p.M19I	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	19					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		GCGTGTAATTCATTCCTGTGG	0.363		NA											51	144					7.71e-15	9.86e-15	1	0
INTS12	57117	broad.mit.edu	37	4	106604207	106604207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:106604207C>T	uc003hxw.2	-	8	1330	c.1072G>A	c.(1072-1074)GTA>ATA	p.V358I	INTS12_uc010ilr.2_Missense_Mutation_p.V358I	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	358	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTAAAGGTACAGTGGGCGTA	0.463		NA											78	240					0	0	0	0
CFI	3426	broad.mit.edu	37	4	110667391	110667391	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:110667391C>G	uc003hzr.3	-	11	1624	c.1416G>C	c.(1414-1416)TGG>TGC	p.W472C	CFI_uc003hzq.2_Missense_Mutation_p.W269C|CFI_uc011cft.1_Missense_Mutation_p.W480C|CFI_uc003hzs.3_Missense_Mutation_p.W465C	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	472	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTCTCGTCCCCAGCCAGAAA	0.418		NA											29	89					0	0	0	0
NDST4	64579	broad.mit.edu	37	4	115858571	115858571	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:115858571C>A	uc003ibu.2	-	5	1989	c.1310G>T	c.(1309-1311)TGG>TTG	p.W437L	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	437	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)		GACCTTCTTCCAAGCTGCATA	0.483		NA											43	133					8.16e-20	1.09e-19	1	0
ADAD1	132612	broad.mit.edu	37	4	123336765	123336765	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:123336765C>A	uc003ieo.2	+	11	1713	c.1481C>A	c.(1480-1482)ACT>AAT	p.T494N	ADAD1_uc003iep.2_Missense_Mutation_p.T483N|ADAD1_uc003ieq.2_Missense_Mutation_p.T476N	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	494	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GGGAAGATCACTGAAAGGTTA	0.323		NA											52	196					3.95e-17	5.18e-17	1	0
INPP4B	8821	broad.mit.edu	37	4	143350367	143350367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:143350367A>G	uc003iix.3	-	6	690	c.95T>C	c.(94-96)ATC>ACC	p.I32T	INPP4B_uc003iiw.3_Missense_Mutation_p.I32T|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	32	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					AGTCTTCTGGATACCTATAAA	0.274		NA											15	30					0	0	0	0
POU4F2	5458	broad.mit.edu	37	4	147561057	147561057	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147561057C>A	uc003ikv.2	+	2	575	c.327C>A	c.(325-327)GCC>GCA	p.A109A		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	109					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					GTCTGCTGGCCCGCGCCGAGG	0.602		NA											8	26					9.7e-10	1.19e-09	1	0
TTC29	83894	broad.mit.edu	37	4	147741347	147741347	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147741347G>A	uc003ikw.3	-	10	1258	c.1031C>T	c.(1030-1032)GCA>GTA	p.A344V	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.A370V|TTC29_uc010ipd.1_Missense_Mutation_p.A344V	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	344	TPR 4.						binding				0	all_hematologic(180;0.151)					ATTGTTTCTTGCAATTTTCAC	0.333		NA											8	108					0	0	0	0
LRAT	9227	broad.mit.edu	37	4	155670238	155670238	+	Missense_Mutation	SNP	A	A	G	rs140421566	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:155670238A>G	uc003iom.1	+	2	970	c.643A>G	c.(643-645)ACT>GCT	p.T215A	LRAT_uc003ion.1_Missense_Mutation_p.T215A	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	215	Helical; (Potential).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GGTATCATACACTACCCTTCC	0.403		NA											63	276					0	0	0	0
SORBS2	8470	broad.mit.edu	37	4	186544587	186544587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:186544587G>T	uc003iyl.2	-	13	2842	c.1984C>A	c.(1984-1986)CCG>ACG	p.P662T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P762T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P566T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P776T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	662						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGGCCGGGCACCTGCCT	0.413		NA											63	128					3.86e-21	5.21e-21	1	0
FRG1	2483	broad.mit.edu	37	4	190876258	190876258	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:190876258T>C	uc003izs.2	+	5	575	c.384T>C	c.(382-384)CGT>CGC	p.R128R		NM_004477	NP_004468	Q14331	FRG1_HUMAN	FSHD region gene 1	128					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus					0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTGTTGGGCGTTCAGATGCAA	0.353		NA											4	217					0	0	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089145	1089145	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:1089145C>T	uc003jbu.2	-	4	507	c.441G>A	c.(439-441)GTG>GTA	p.V147V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	147	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACACCAGCCACCCCCACGA	0.652		NA											36	124					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13716599	13716599	+	Silent	SNP	G	G	T	rs113914833		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13716599G>T	uc003jfd.2	-	74	12948	c.12906C>A	c.(12904-12906)ATC>ATA	p.I4302I	DNAH5_uc003jfc.2_Silent_p.I470I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4302					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)					GACAAACCTGGATATACTGAA	0.333		NA							Kartagener_syndrome				19	46					3.88e-16	5.04e-16	1	0
DNAH5	1767	broad.mit.edu	37	5	13841180	13841180	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13841180A>G	uc003jfd.2	-	34	5586	c.5544T>C	c.(5542-5544)AAT>AAC	p.N1848N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1848	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)					CAAACTTGGCATTTCTAAGGG	0.388		NA							Kartagener_syndrome				38	150					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45353210	45353210	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:45353210G>C	uc003jok.2	-	5	1394	c.1369C>G	c.(1369-1371)CTG>GTG	p.L457V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	457	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ACCTCTCTCAGAGGATCATTG	0.348		NA											31	90					0	0	0	0
NDUFS4	4724	broad.mit.edu	37	5	52942221	52942221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:52942221G>A	uc003jpe.2	+	3	364	c.336G>A	c.(334-336)ATG>ATA	p.M112I		NM_002495	NP_002486	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4	112					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	ATCCTTTGATGGGTTGGGCAT	0.353		NA											13	104					0	0	0	0
IL6ST	3572	broad.mit.edu	37	5	55250717	55250717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:55250717C>A	uc003jqq.2	-	11	1626	c.1371G>T	c.(1369-1371)TGG>TGT	p.W457C	IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.W168C|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	457	Extracellular (Potential).|Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACACACCACTCAAGTA	0.423		NA	O		hepatocellular ca								46	320					1.36e-18	1.81e-18	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65370963	65370963	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:65370963C>G	uc003juk.1	+	23	4176	c.3868C>G	c.(3868-3870)CTA>GTA	p.L1290V	ERBB2IP_uc003jui.1_Missense_Mutation_p.L1249V|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L1297V|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L1249V|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L488V|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L1293V|ERBB2IP_uc003jul.1_Missense_Mutation_p.L1245V	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1290					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGAGAACAACTAATTGATTA	0.488		NA											60	184					0	0	0	0
ENC1	8507	broad.mit.edu	37	5	73931933	73931933	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:73931933C>A	uc003kdc.3	-	2	1509	c.378G>T	c.(376-378)ATG>ATT	p.M126I	ENC1_uc011css.1_Missense_Mutation_p.M53I	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	126				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAAACTCCAGCATGTCACCAG	0.532		NA											25	142					1.43e-11	1.77e-11	1	0
AP3B1	8546	broad.mit.edu	37	5	77521392	77521392	+	Missense_Mutation	SNP	C	C	T	rs149521661		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:77521392C>T	uc003kfj.2	-	6	702	c.577G>A	c.(577-579)GAA>AAA	p.E193K		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	193					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AGAAGTTTTTCAATTACTTCA	0.254		NA							Hermansky-Pudlak_syndrome				13	41					0	0	0	0
TTC37	9652	broad.mit.edu	37	5	94852062	94852062	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:94852062T>C	uc003klb.2	-	25	2899	c.2629A>G	c.(2629-2631)ATT>GTT	p.I877V		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	877	TPR 15.		Missing (found in a patient with THE syndrome).				binding			ovary(3)|pancreas(1)	4						TTTACCTCAATGTTTTCATTT	0.328		NA											14	80					0	0	0	0
YTHDC2	64848	broad.mit.edu	37	5	112917312	112917312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:112917312G>T	uc003kqn.2	+	25	3736	c.3553G>T	c.(3553-3555)GAA>TAA	p.E1185*		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1185							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATGTCTTCAGAAGAGCTTCC	0.408		NA											23	56					1.11e-09	1.35e-09	1	0
C5orf48	389320	broad.mit.edu	37	5	125971893	125971893	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:125971893G>A	uc003kub.1	+	3	378	c.365G>A	c.(364-366)AGC>AAC	p.S122N		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	122										ovary(1)	1						AGATACCAAAGCACTGTGATT	0.403		NA											25	143					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214169	140214169	+	Silent	SNP	G	G	T	rs139714335		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140214169G>T	uc003lhq.2	+	1	201	c.201G>T	c.(199-201)GTG>GTT	p.V67V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V67V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGCGGTGTGCAAATTCC	0.632		NA											50	278					3.19e-20	4.28e-20	1	0
PCDHA12	56137	broad.mit.edu	37	5	140256976	140256976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140256976C>T	uc003lic.2	+	1	2046	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	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_uc011daf.1_Missense_Mutation_p.A640V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	640	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGAGGCGGACGCTCCG	0.687		NA											19	54					0	0	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720647	140720647	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140720647C>T	uc003ljk.1	+	1	2294	c.2109C>T	c.(2107-2109)GTC>GTT	p.V703V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.V703V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	703	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.652		NA											60	165					0	0	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140777700	140777700	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140777700G>A	uc003lkf.1	+	1	6	c.6G>A	c.(4-6)GGG>GGA	p.G2G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G2G	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGATGGGGAGCGGCGCCG	0.577		NA									OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0	0
PCDH1	5097	broad.mit.edu	37	5	141233630	141233630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:141233630C>T	uc003llp.2	-	5	3808	c.3691G>A	c.(3691-3693)GCC>ACC	p.A1231T		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGCGCTTGGCCGTCTGGGCA	0.672		NA											3	26					0	0	0	0
ZNF184	7738	broad.mit.edu	37	6	27424701	27424701	+	Splice_Site	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:27424701C>T	uc003njj.2	-	4	1014	c.203_splice	c.e4-1	p.G68_splice	ZNF184_uc010jqv.2_Splice_Site_p.G68_splice|ZNF184_uc003nji.2_Splice_Site_p.G68_splice	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTTGGAGTCCTGTTCATTAG	0.408		NA											56	124					0	0	0	0
GPX6	257202	broad.mit.edu	37	6	28473519	28473519	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:28473519C>A	uc011dlj.1	-	5	470	c.420G>T	c.(418-420)GTG>GTT	p.V140V	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	140					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	TTTCTCCATTCACATCCCCTT	0.453		NA											12	80					7.04e-09	8.43e-09	1	0
CCHCR1	54535	broad.mit.edu	37	6	31110480	31110480	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:31110480G>A	uc003nsr.3	-	18	2361	c.2238C>T	c.(2236-2238)GTC>GTT	p.V746V	CCHCR1_uc011dne.1_Silent_p.V732V|CCHCR1_uc003nsq.3_Silent_p.V799V|CCHCR1_uc003nsp.3_Silent_p.V835V	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	746					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CATCGAGCAGGACAGAGAGGG	0.537		NA											42	109					0	0	0	0
TAP2	6891	broad.mit.edu	37	6	32797314	32797314	+	Splice_Site	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:32797314C>G	uc003occ.2	-	10	1827	c.1796_splice	c.e10-1	p.D599_splice	TAP2_uc011dqf.1_Splice_Site_p.D599_splice|TAP2_uc003ocb.1_Splice_Site_p.D599_splice|TAP2_uc003ocd.2_Splice_Site_p.D599_splice	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TCCCCTACATCTGAGGAAATC	0.557		NA											11	55					0	0	0	0
TRERF1	55809	broad.mit.edu	37	6	42231259	42231259	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:42231259C>A	uc003osd.2	-	8	2246	c.1683G>T	c.(1681-1683)CCG>CCT	p.P561P	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.P561P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gaggcggaggcggcagtggtg	0.378		NA											12	36					4.27e-12	5.33e-12	1	0
ZNF318	24149	broad.mit.edu	37	6	43306786	43306786	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:43306786C>A	uc003oux.2	-	10	5028	c.4950G>T	c.(4948-4950)CTG>CTT	p.L1650L	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1650					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTAGGGCCACCAGAGTTTTTG	0.493		NA											80	208					1.43e-34	1.96e-34	1	0
CDC5L	988	broad.mit.edu	37	6	44413419	44413419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:44413419G>T	uc003oxl.2	+	15	2378	c.2119G>T	c.(2119-2121)GCC>TCC	p.A707S		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	707	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACGACAGAAGCCAAGAGGGC	0.443		NA											6	53					3.6e-05	4.07e-05	1	0
RCAN2	10231	broad.mit.edu	37	6	46190997	46190997	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:46190997T>A	uc003oyb.1	-	4	790	c.475A>T	c.(475-477)AGT>TGT	p.S159C	RCAN2_uc003oyc.1_Missense_Mutation_p.S205C|RCAN2_uc003oyd.1_Missense_Mutation_p.S205C	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	159					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						ACGACGACACTTGGGGTGGAC	0.512		NA											38	216					0	0	0	0
ZNF451	26036	broad.mit.edu	37	6	57015556	57015556	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:57015556G>T	uc003pdm.1	+	11	2872	c.2648G>T	c.(2647-2649)CGA>CTA	p.R883L	ZNF451_uc003pdl.2_Missense_Mutation_p.R883L|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R883L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTACCTGCGAACCATGACT	0.358		NA											58	174					2.4e-35	3.3e-35	1	0
HTR1B	3351	broad.mit.edu	37	6	78172872	78172872	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:78172872C>A	uc003pil.1	-	1	249	c.249G>T	c.(247-249)CCG>CCT	p.P83P		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	83	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTAGTTAGCCGGGGTGTGCA	0.582		NA											48	198					1.24e-20	1.66e-20	1	0
C6orf165	154313	broad.mit.edu	37	6	88140765	88140765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:88140765G>A	uc003plv.2	+	10	1266	c.1174G>A	c.(1174-1176)GTG>ATG	p.V392M	C6orf165_uc003plw.2_Missense_Mutation_p.V204M|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.V392M	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	392										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAGAGTAAATGTGGCAGATTT	0.328		NA											16	49					0	0	0	0
UBE2J1	51465	broad.mit.edu	37	6	90052081	90052081	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:90052081C>G	uc010kcb.2	-	4	372	c.199G>C	c.(199-201)GAG>CAG	p.E67Q	UBE2J1_uc003pnc.2_Missense_Mutation_p.E67Q	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	67	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		ATGGGATACTCTGGTGGCAGT	0.448		NA											16	76					0	0	0	0
EPB41L2	2037	broad.mit.edu	37	6	131247798	131247798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:131247798G>C	uc003qch.2	-	4	939	c.757C>G	c.(757-759)CTC>GTC	p.L253V	EPB41L2_uc003qcg.1_Missense_Mutation_p.L253V|EPB41L2_uc011eby.1_Missense_Mutation_p.L253V|EPB41L2_uc003qci.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfk.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfl.1_Missense_Mutation_p.L253V	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	253	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTCCAAGAGATTGAGGTGT	0.323		NA											74	128					0	0	0	0
SHPRH	257218	broad.mit.edu	37	6	146267451	146267451	+	Silent	SNP	C	C	T	rs140562619	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:146267451C>T	uc003qlf.2	-	7	1638	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	SHPRH_uc003qld.2_Silent_p.P413P|SHPRH_uc003qle.2_Silent_p.P413P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Silent_p.P302P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	413					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAATGTGACGGAATAAAAT	0.323		NA											17	49					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152555059	152555059	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:152555059A>G	uc010kiw.2	-	112	21171	c.20569T>C	c.(20569-20571)TCA>CCA	p.S6857P	SYNE1_uc010kiv.2_Missense_Mutation_p.S1381P|SYNE1_uc003qos.3_Missense_Mutation_p.S1381P|SYNE1_uc003qot.3_Missense_Mutation_p.S6786P|SYNE1_uc003qou.3_Missense_Mutation_p.S6857P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6857	Spectrin 21.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAACAGATGATTTCAGGGAA	0.438		NA								HNSCC(10;0.0054)			4	86					0	0	0	0
NOX3	50508	broad.mit.edu	37	6	155728305	155728305	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:155728305G>T	uc003qqm.2	-	12	1642	c.1539C>A	c.(1537-1539)AAC>AAA	p.N513K		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	513	Cytoplasmic (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTGTTCCAGTTGGGCCTCC	0.478		NA											25	134					5.45e-15	7.01e-15	1	0
MAP3K4	4216	broad.mit.edu	37	6	161519401	161519401	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:161519401A>T	uc003qtn.2	+	17	3758	c.3616A>T	c.(3616-3618)AGC>TGC	p.S1206C	MAP3K4_uc010kkc.1_Missense_Mutation_p.S1202C|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S659C|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1206					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGTCGGCCCAGCCCCTCTGG	0.498		NA											21	128					0	0	0	0
SUN3	256979	broad.mit.edu	37	7	48046766	48046766	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:48046766G>T	uc003tof.2	-	6	585	c.488C>A	c.(487-489)ACA>AAA	p.T163K	SUN3_uc010kyq.2_Missense_Mutation_p.T63K|SUN3_uc003tog.2_Missense_Mutation_p.T163K|SUN3_uc011kcf.1_Missense_Mutation_p.T151K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	163						integral to membrane				central_nervous_system(1)	1						CAGGACCTCTGTGTGGTCCGG	0.552		NA											26	75					5.46e-16	7.09e-16	1	0
14-Sep	346288	broad.mit.edu	37	7	55874869	55874869	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:55874869G>A	uc003tqz.2	-	8	1017	c.900C>T	c.(898-900)ACC>ACT	p.T300T		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	300					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTGAGTGTGGGTTTTTTCTT	0.348		NA											42	126					0	0	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177039	71177039	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:71177039C>A	uc003tvy.2	+	11	1705	c.1705C>A	c.(1705-1707)CTG>ATG	p.L569M	WBSCR17_uc003tvz.2_Missense_Mutation_p.L268M	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	569	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGACGCTGCCTGGAGGTGGA	0.463		NA											55	193					1.81e-27	2.47e-27	1	0
PCLO	27445	broad.mit.edu	37	7	82579984	82579984	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:82579984A>G	uc003uhx.2	-	6	10209	c.9920T>C	c.(9919-9921)CTG>CCG	p.L3307P	PCLO_uc003uhv.2_Missense_Mutation_p.L3307P|PCLO_uc010lec.2_Missense_Mutation_p.L272P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3238	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						TTGCTCCTCCAGCTGCTGGTG	0.502		NA											40	166					0	0	0	0
C7orf51	222950	broad.mit.edu	37	7	100084710	100084710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100084710G>A	uc003uvd.1	+	3	494	c.335G>A	c.(334-336)CGA>CAA	p.R112Q	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	112										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCAGCACCCGAAGACCCCCT	0.701		NA											22	45					0	0	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839228	100839228	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100839228T>A	uc003uyc.2	-	7	1192	c.1025A>T	c.(1024-1026)TAG>TTG	p.*342L	MOGAT3_uc010lhr.2_Silent_p.L274L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	342					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCCAGGCCTAGATGAAGGT	0.577		NA											27	123					0	0	0	0
CUX1	1523	broad.mit.edu	37	7	101839913	101839913	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:101839913G>A	uc003uyx.3	+	15	1261	c.1223_splice	c.e15-1	p.G408_splice	CUX1_uc003uys.3_Splice_Site_p.G419_splice|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CTTCCTTGTAGGGTCAGCCAG	0.552		NA											35	135					0	0	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407111	117407111	+	Splice_Site	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:117407111A>C	uc003vjf.2	-	9	2988	c.2896_splice	c.e9+1	p.N966_splice		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2											ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACATCACTCACTCAGATTCT	0.458		NA											28	108					0	0	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121699858	121699858	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:121699858C>T	uc003vjy.2	+	29	7118	c.6723C>T	c.(6721-6723)CAC>CAT	p.H2241H	PTPRZ1_uc003vjz.2_Silent_p.H1374H|PTPRZ1_uc011knt.1_Silent_p.H831H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2241	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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						CCCTTATGCACCAACTAGAAA	0.428		NA											52	148					0	0	0	0
CALD1	800	broad.mit.edu	37	7	134635184	134635184	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:134635184A>G	uc003vrz.2	+	9	2313	c.1854A>G	c.(1852-1854)AAA>AAG	p.K618K	CALD1_uc003vry.2_Silent_p.K363K|CALD1_uc003vsa.2_Silent_p.K389K|CALD1_uc003vsb.2_Silent_p.K363K|CALD1_uc010lmm.2_Silent_p.K389K|CALD1_uc011kpt.1_Silent_p.K137K|CALD1_uc003vsc.2_Silent_p.K383K|CALD1_uc003vsd.2_Silent_p.K357K|CALD1_uc011kpu.1_Silent_p.K368K|CALD1_uc011kpv.1_Silent_p.K227K|CALD1_uc003vse.2_Silent_p.K482K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	618	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						CTGCTGAGAAACGCCAGAAGA	0.433		NA											36	68					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471453	146471453	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:146471453C>A	uc003weu.1	+	2	704	c.188C>A	c.(187-189)GCC>GAC	p.A63D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	63	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCGGCTATGCCAAGATAAAC	0.368		NA								HNSCC(39;0.1)			23	43					1.64e-13	2.09e-13	1	0
MLL3	58508	broad.mit.edu	37	7	151880230	151880230	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:151880230T>A	uc003wla.2	-	35	5313	c.5094A>T	c.(5092-5094)AGA>AGT	p.R1698S	MLL3_uc003wkz.2_Missense_Mutation_p.R759S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1698					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)		CTCTGTTATCTCTGGCTTTTT	0.323		NA	N		medulloblastoma								145	328					0	0	0	0
INTS10	55174	broad.mit.edu	37	8	19701638	19701638	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:19701638G>C	uc003wzj.2	+	15	1902	c.1771G>C	c.(1771-1773)GTG>CTG	p.V591L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	591					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCATGTGATTGTGTTGCTTCA	0.418		NA											28	70					0	0	0	0
MTFR1	9650	broad.mit.edu	37	8	66582207	66582207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:66582207G>T	uc003xvm.2	+	2	232	c.20G>T	c.(19-21)CGC>CTC	p.R7L	MTFR1_uc011lep.1_Missense_Mutation_p.R7L|MTFR1_uc003xvn.2_Missense_Mutation_p.R7L|MTFR1_uc003xvo.1_5'UTR	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	7						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368		NA											23	205					8.25e-16	1.07e-15	1	0
CSMD3	114788	broad.mit.edu	37	8	113237020	113237020	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113237020T>C	uc003ynu.2	-	71	11263	c.11104A>G	c.(11104-11106)ACG>GCG	p.T3702A	CSMD3_uc003yns.2_Missense_Mutation_p.T2904A|CSMD3_uc003ynt.2_Missense_Mutation_p.T3662A|CSMD3_uc011lhx.1_Missense_Mutation_p.T3533A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3702	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTGCAAACCGTGTTCAAGTTG	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			134	262					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113256623	113256623	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113256623C>T	uc003ynu.2	-	65	10561	c.10402G>A	c.(10402-10404)GCT>ACT	p.A3468T	CSMD3_uc003yns.2_Missense_Mutation_p.A2670T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3428T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3299T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3468	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAAAACTTACCTTCACAAATG	0.328		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	161					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113395847	113395847	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113395847C>A	uc003ynu.2	-	37	6139	c.5980G>T	c.(5980-5982)GAC>TAC	p.D1994Y	CSMD3_uc003yns.2_Missense_Mutation_p.D1196Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1954Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1890Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1994	Extracellular (Potential).|CUB 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCATAAAAGTCCAGAGAATCC	0.343		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	109					1.66e-12	2.08e-12	1	0
TMEM71	137835	broad.mit.edu	37	8	133723206	133723206	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:133723206A>G	uc003ytp.2	-	9	1063	c.834T>C	c.(832-834)CAT>CAC	p.H278H	TMEM71_uc003ytm.1_3'UTR|TMEM71_uc003ytn.2_3'UTR|TMEM71_uc003yto.2_3'UTR	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	Error:Variant_position_missing_in_Q6P5X7_after_alignment						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCCTAAATGGTTGTCAA	0.383		NA											56	165					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139144990	139144990	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139144990G>A	uc003yuy.2	-	20	4238	c.4067C>T	c.(4066-4068)GCC>GTC	p.A1356V	FAM135B_uc003yux.2_Missense_Mutation_p.A1257V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1356										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCAGTCCTTGGCTTCAACCAG	0.537		NA								HNSCC(54;0.14)			96	513					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139153488	139153488	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139153488C>G	uc003yuy.2	-	17	3914	c.3743G>C	c.(3742-3744)GGG>GCG	p.G1248A	FAM135B_uc003yux.2_Missense_Mutation_p.G1149A|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1248										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGTGAGGCCCAGAGAGTGA	0.522		NA								HNSCC(54;0.14)			20	108					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139165358	139165358	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139165358A>T	uc003yuy.2	-	13	1531	c.1360T>A	c.(1360-1362)TTA>ATA	p.L454I	FAM135B_uc003yux.2_Missense_Mutation_p.L355I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L16I|FAM135B_uc003yvb.2_Missense_Mutation_p.L16I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	454										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAAAAGATAAATTGCTATTT	0.373		NA								HNSCC(54;0.14)			31	127					0	0	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777172	18777172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:18777172C>T	uc003zne.3	+	19	3072	c.2945C>T	c.(2944-2946)GCG>GTG	p.A982V		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	982						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGTGCTTGCGGGGAGGAAG	0.672		NA											10	184					0	0	0	0
STOML2	30968	broad.mit.edu	37	9	35100719	35100719	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35100719C>G	uc003zwi.2	-	9	872	c.809G>C	c.(808-810)GGA>GCA	p.G270A	STOML2_uc003zwh.2_Missense_Mutation_p.G161A|STOML2_uc003zwj.2_Missense_Mutation_p.G161A|STOML2_uc011lou.1_Missense_Mutation_p.G225A|STOML2_uc003zwk.2_Missense_Mutation_p.G219A	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	270						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCATCTCCATTCTGTGA	0.512		NA											12	207					0	0	0	0
TLN1	7094	broad.mit.edu	37	9	35717216	35717216	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35717216A>T	uc003zxt.2	-	19	2739	c.2385T>A	c.(2383-2385)GCT>GCA	p.A795A		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	795					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATAACGGCCAGCAGGCCCAG	0.567		NA											26	44					0	0	0	0
PGM5	5239	broad.mit.edu	37	9	71002394	71002394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:71002394C>A	uc004agr.2	+	4	816	c.587C>A	c.(586-588)CCA>CAA	p.P196Q		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	196					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ATAGTGGACCCAGTGGATATC	0.413		NA											89	177					8.98e-41	1.24e-40	1	0
VPS13A	23230	broad.mit.edu	37	9	79959184	79959184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:79959184G>T	uc004akr.2	+	51	7402	c.7142G>T	c.(7141-7143)CGT>CTT	p.R2381L	VPS13A_uc004akp.3_Missense_Mutation_p.R2381L|VPS13A_uc004akq.3_Missense_Mutation_p.R2381L|VPS13A_uc004aks.2_Missense_Mutation_p.R2342L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2381					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATTCTATTGCGTCTAGATAAC	0.299		NA											72	89					9.99e-38	1.37e-37	1	0
KIAA1529	57653	broad.mit.edu	37	9	100116995	100116995	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:100116995G>C	uc011lut.1	+	35	4469	c.3696G>C	c.(3694-3696)CAG>CAC	p.Q1232H	KIAA1529_uc004axe.1_Missense_Mutation_p.Q1064H|KIAA1529_uc004axg.1_Missense_Mutation_p.Q1093H|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.Q249H	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				ACCTGGACCAGGTAGGGCCCC	0.567		NA											67	89					0	0	0	0
KLF4	9314	broad.mit.edu	37	9	110250031	110250031	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:110250031G>A	uc004bdh.2	-	3	1238	c.617C>T	c.(616-618)CCG>CTG	p.P206L	KLF4_uc004bdf.1_Missense_Mutation_p.P165L|KLF4_uc004bdg.2_Missense_Mutation_p.P215L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	215	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						CGGCTGCTGCGGCGGAATGTA	0.687		NA											6	5					0	0	0	0
ZNF483	158399	broad.mit.edu	37	9	114289921	114289921	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:114289921A>G	uc004bff.2	+	2	470	c.246A>G	c.(244-246)AGA>AGG	p.R82R	ZNF483_uc011lwq.1_Silent_p.R82R|ZNF483_uc004bfg.2_Silent_p.R82R|ZNF483_uc010mud.1_Silent_p.R82R	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGTGGCTGAGACCAGACATTC	0.468		NA											63	76					0	0	0	0
URM1	81605	broad.mit.edu	37	9	131140339	131140339	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:131140339C>T	uc004buv.2	+	2	122	c.60C>T	c.(58-60)GAC>GAT	p.D20D	URM1_uc011may.1_Silent_p.D20D|URM1_uc004buw.2_RNA	NM_030914	NP_112176	Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1 homolog isoform a	20					tRNA thio-modification|tRNA wobble uridine modification		protein binding				0						TCCTGTTTGACGGTATTAAGA	0.507		NA											17	148					0	0	0	0
GPR143	4935	broad.mit.edu	37	X	9728793	9728793	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:9728793C>T	uc004cst.1	-	2	384	c.384G>A	c.(382-384)ACG>ACA	p.T128T		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	108	Extracellular (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				GCCAAATTTCCGTGTGGTTCA	0.448		NA											5	4					0	0	0	0
FAM46D	169966	broad.mit.edu	37	X	79698219	79698219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:79698219G>C	uc004edl.1	+	5	515	c.181G>C	c.(181-183)GCC>CCC	p.A61P	FAM46D_uc004edm.1_Missense_Mutation_p.A61P	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	61										lung(2)	2						TGTTAAAGATGCCAGATTGAA	0.398		NA											52	44					0	0	0	0
ZNF75D	7626	broad.mit.edu	37	X	134428026	134428026	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:134428026G>T	uc004eyp.2	-	3	2696	c.41C>A	c.(40-42)CCC>CAC	p.P14H	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.P14H	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCCATCTGGGGGCTTGAGCA	0.483		NA											114	143					8.09e-62	1.12e-61	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448494	89448495	+	In_Frame_Ins	INS	-	-	CAC			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:89448494_89448495insCAC	uc009wcx.2	-	3	1731_1732	c.1015_1016insGTG	c.(1015-1017)GAC>GGTGAC	p.338_339insG	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_In_Frame_Ins_p.338_339insG	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	338_339	Ser-rich.						nucleotide binding|RNA binding				0						GCCAACCCTGTCACAACTTGAG	0.505		NA											12	417	---	---	---	---	NA	NA	NA	NA
TMEM86A	144110	broad.mit.edu	37	11	18723384	18723386	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:18723384_18723386delTCT	uc001moz.1	+	3	634_636	c.551_553delTCT	c.(550-555)CTCTTC>CTC	p.F186del		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	186	Helical; (Potential).					integral to membrane				ovary(1)	1						AGTGGTGCACTCTTCTTTATCAT	0.586		NA											32	69	---	---	---	---	NA	NA	NA	NA
ADCY4	196883	broad.mit.edu	37	14	24794669	24794670	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:24794669_24794670delAG	uc001wov.2	-	14	1742_1743	c.1736_1737delCT	c.(1735-1737)TCTfs	p.S579fs	ADCY4_uc001wow.2_Frame_Shift_Del_p.S579fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.S265fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.S579fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.S579fs	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	579	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGATTGCAGAGAGTCGGTA	0.54		NA											24	62	---	---	---	---	NA	NA	NA	NA
GEMIN4	50628	broad.mit.edu	37	17	650275	650279	+	Frame_Shift_Del	DEL	GCGGA	GCGGA	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:650275_650279delGCGGA	uc002frs.1	-	2	1123_1127	c.1004_1008delTCCGC	c.(1003-1008)CTCCGCfs	p.L335fs	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	335_336					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCTGGCTGCTGCGGAGCACGGCCTG	0.629		NA											7	164	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577092	7577092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:7577092delC	uc002gim.2	-	8	1040	c.846delG	c.(844-846)CGGfs	p.R282fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(365)|p.R282G(26)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTCTGTGCGCCGGTCTCTCC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			57	64	---	---	---	---	NA	NA	NA	NA
MYO7B	4648	broad.mit.edu	37	2	128331588	128331589	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:128331588_128331589delGC	uc002top.2	+	7	739_740	c.686_687delGC	c.(685-687)GGCfs	p.G229fs		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	229	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGATCGAGGGCGCGCGCATCG	0.584		NA											22	213	---	---	---	---	NA	NA	NA	NA
NCKAP5	344148	broad.mit.edu	37	2	133542068	133542068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:133542068delC	uc002ttp.2	-	14	2690	c.2316delG	c.(2314-2316)AAGfs	p.K772fs	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	772							protein binding				0						GTTTGACCAGCTTTTGCTGCT	0.423		NA											37	126	---	---	---	---	NA	NA	NA	NA
KDR	3791	broad.mit.edu	37	4	55976627	55976627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:55976627delG	uc003has.2	-	9	1500	c.1198delC	c.(1198-1200)CTTfs	p.L400fs	KDR_uc003hat.1_Frame_Shift_Del_p.L400fs|KDR_uc011bzx.1_Frame_Shift_Del_p.L400fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	400	Ig-like C2-type 4.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTGGTAAGGATGACAGTG	0.423		NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			38	125	---	---	---	---	NA	NA	NA	NA
SMARCAD1	56916	broad.mit.edu	37	4	95200121	95200121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:95200121delA	uc003htc.3	+	19	2593	c.2338delA	c.(2338-2340)AAAfs	p.K780fs	SMARCAD1_uc003htb.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc003htd.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc010ila.2_Frame_Shift_Del_p.K645fs|SMARCAD1_uc011cdw.1_Frame_Shift_Del_p.K350fs	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	780					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAGTTGAGGAAAATGGCCAA	0.338		NA											14	60	---	---	---	---	NA	NA	NA	NA
KCNN2	3781	broad.mit.edu	37	5	113829151	113829151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:113829151delT	uc003kqo.2	+	7	1891	c.1434delT	c.(1432-1434)ACTfs	p.T478fs	KCNN2_uc003kqp.2_Frame_Shift_Del_p.T130fs|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	478	Calmodulin-binding (By similarity).					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)		AAGCAAACACTTTGGTGGACT	0.403		NA											21	64	---	---	---	---	NA	NA	NA	NA
DLC1	10395	broad.mit.edu	37	8	12955928	12955930	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:12955928_12955930delAGA	uc003wwm.2	-	10	3589_3591	c.3145_3147delTCT	c.(3145-3147)TCTdel	p.S1049del	DLC1_uc003wwk.1_In_Frame_Del_p.S612del|DLC1_uc003wwl.1_In_Frame_Del_p.S646del|DLC1_uc011kxx.1_In_Frame_Del_p.S538del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1049					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CATGCTTGTTAGAAGGTGTGTAT	0.424		NA											51	159	---	---	---	---	NA	NA	NA	NA
ST18	9705	broad.mit.edu	37	8	53071483	53071483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:53071483delT	uc003xqz.2	-	10	1937	c.1781delA	c.(1780-1782)AACfs	p.N594fs	ST18_uc011ldq.1_Frame_Shift_Del_p.N241fs|ST18_uc011ldr.1_Frame_Shift_Del_p.N559fs|ST18_uc011lds.1_Frame_Shift_Del_p.N499fs|ST18_uc003xra.2_Frame_Shift_Del_p.N594fs|ST18_uc003xrb.2_Frame_Shift_Del_p.N594fs	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	594						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTGGCTTGTTGGAGAGGAT	0.542		NA											27	340	---	---	---	---	NA	NA	NA	NA
JPH1	56704	broad.mit.edu	37	8	75233214	75233214	+	Frame_Shift_Del	DEL	G	G	-	rs79761162	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:75233214delG	uc003yae.2	-	1	349	c.309delC	c.(307-309)CCCfs	p.P103fs	JPH1_uc003yaf.2_Frame_Shift_Del_p.P103fs|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	103	Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGCGAGCGGGGGTGCACA	0.677		NA											43	78	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139395007	139395008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:139395007_139395008insA	uc004chz.2	-	31	5930_5931	c.5930_5931insT	c.(5929-5931)TTCfs	p.F1977fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1977	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCTACCTGGAAGACACCTTG	0.683		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			67	65	---	---	---	---	NA	NA	NA	NA
