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
TPRG1L	127262	broad.mit.edu	37	1	3544105	3544105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:3544105G>T	uc001akm.2	+	4	593	c.512G>T	c.(511-513)AGT>ATT	p.S171I	TPRG1L_uc009vlj.2_Missense_Mutation_p.S112I	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	171						cell junction|synaptic vesicle					0	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GACAAGCAAAGTCGTCCTTCC	0.502		NA											11	221					1.34e-11	1.67e-11	1	0
DDI2	84301	broad.mit.edu	37	1	15959965	15959965	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:15959965G>A	uc001awx.1	+	4	633	c.537G>A	c.(535-537)CAG>CAA	p.Q179Q	DDI2_uc001aww.2_Silent_p.Q179Q|DDI2_uc009voj.1_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	179					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGAGCAGCAGCAGGACCGAG	0.398		NA											5	322					0	0	0	0
GRHL3	57822	broad.mit.edu	37	1	24669194	24669194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:24669194G>A	uc001biy.2	+	10	1278	c.1232G>A	c.(1231-1233)AGG>AAG	p.R411K	GRHL3_uc001bix.2_Missense_Mutation_p.R406K|GRHL3_uc001biz.2_Missense_Mutation_p.R313K	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	406					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCTGAGAGGAAGATGCGC	0.597		NA											5	126					0	0	0	0
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:33149862T>C	uc001bvt.2	-	3	1455	c.1355A>G	c.(1354-1356)TAT>TGT	p.Y452C	SYNC_uc010ohl.1_Missense_Mutation_p.Y452C|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament 1 isoform 1	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			ovary(1)	1						AACTGACTTATAAGTAGAGAG	0.433		NA											139	187					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39844998	39844998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:39844998A>T	uc010oiu.1	+	18	8851	c.8720A>T	c.(8719-8721)AAG>ATG	p.K2907M	MACF1_uc010ois.1_Missense_Mutation_p.K2405M|MACF1_uc001cda.1_Missense_Mutation_p.K2292M|MACF1_uc001cdc.1_Missense_Mutation_p.K1471M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4472	Spectrin 3.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTTCACAAGGAGGCAAAC	0.468		NA											7	286					0	0	0	0
HPDL	84842	broad.mit.edu	37	1	45792887	45792887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:45792887C>T	uc001cne.2	+	1	343	c.67C>T	c.(67-69)CGG>TGG	p.R23W		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	23					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GCCCCTAGCCCGGAACCTGCA	0.697		NA											14	19					0	0	0	0
ROR1	4919	broad.mit.edu	37	1	64643163	64643163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:64643163G>A	uc001dbj.2	+	9	1838	c.1439G>A	c.(1438-1440)GGT>GAT	p.G480D	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	480	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						GAAGAATTGGGTGAGTGTGCC	0.423		NA											21	270					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66074565	66074565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:66074565G>T	uc001dci.2	+	12	1935	c.1733G>T	c.(1732-1734)GGA>GTA	p.G578V	LEPR_uc001dcg.2_Missense_Mutation_p.G578V|LEPR_uc001dch.2_Missense_Mutation_p.G578V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G578V|LEPR_uc001dck.2_Missense_Mutation_p.G578V	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	578	Extracellular (Potential).|Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTTAAGTGGAAAAGAAGTA	0.303		NA											16	28					1.34e-09	1.65e-09	1	0
CLCA2	9635	broad.mit.edu	37	1	86904619	86904619	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:86904619A>T	uc001dlr.3	+	7	1195	c.1033A>T	c.(1033-1035)ATT>TTT	p.I345F		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	345	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GATTGTTGAAATTCATACCTT	0.418		NA											6	73					0	0	0	0
HS2ST1	9653	broad.mit.edu	37	1	87558326	87558326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:87558326C>T	uc010osk.1	+	4	947	c.562C>T	c.(562-564)CGG>TGG	p.R188W	HS2ST1_uc001dmc.3_Missense_Mutation_p.R188W|LOC339524_uc001dme.1_Missense_Mutation_p.R149W	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	188	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACCAGGGTTACGGAGACGAAA	0.303		NA											5	29					0	0	0	0
VAV3	10451	broad.mit.edu	37	1	108307728	108307728	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:108307728C>T	uc001dvk.1	-	9	945	c.891G>A	c.(889-891)AAG>AAA	p.K297K	VAV3_uc010ouw.1_Silent_p.K297K|VAV3_uc001dvl.1_Silent_p.K121K|VAV3_uc010oux.1_Silent_p.K297K	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	297	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTTTTGTCTTAGAAATGT	0.338		NA											6	41					0	0	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859412	149859412	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:149859412A>T	uc001ete.2	-	1	55	c.55T>A	c.(55-57)TCG>ACG	p.S19T	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGGGACGAGCGCGACTTG	0.622		NA											5	90					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157557209	157557209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:157557209A>G	uc001fqw.2	-	5	840	c.704T>C	c.(703-705)GTC>GCC	p.V235A	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	235	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACAGGATGACCTCGCCATC	0.532		NA											24	289					0	0	0	0
TBX19	9095	broad.mit.edu	37	1	168274253	168274253	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:168274253C>A	uc001gfl.2	+	6	786	c.735C>A	c.(733-735)GGC>GGA	p.G245G	TBX19_uc001gfj.3_Intron|TBX19_uc001gfm.2_Translation_Start_Site	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	245					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TAGTGGGAGGCTGGATCTTTT	0.493		NA											16	73					2.94e-08	3.59e-08	1	0
KCNT2	343450	broad.mit.edu	37	1	196227581	196227581	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196227581T>A	uc001gtd.1	-	26	3014	c.2954A>T	c.(2953-2955)GAC>GTC	p.D985V	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.D918V|KCNT2_uc001gtf.1_Missense_Mutation_p.D961V|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.D489V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	985	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTCTTTGGAGTCTTTGGTGTC	0.433		NA											10	78					0	0	0	0
CFHR2	3080	broad.mit.edu	37	1	196927141	196927141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:196927141T>C	uc001gtq.1	+	4	628	c.551T>C	c.(550-552)CTT>CCT	p.L184P	CFHR2_uc001gtr.1_Missense_Mutation_p.L60P	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	184	Sushi 3.					extracellular region				skin(2)|ovary(1)	3						TTGTATCAACTTGAGGGTAAC	0.398		NA											3	74					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277842	213277842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:213277842A>T	uc010ptr.1	+	4	468	c.309A>T	c.(307-309)GAA>GAT	p.E103D	RPS6KC1_uc001hkd.2_Missense_Mutation_p.E91D|RPS6KC1_uc010pts.1_Translation_Start_Site|RPS6KC1_uc010ptt.1_Translation_Start_Site|RPS6KC1_uc010ptu.1_Translation_Start_Site|RPS6KC1_uc010ptv.1_Translation_Start_Site|RPS6KC1_uc001hke.2_Translation_Start_Site	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	103	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATGTGCTGAAGACCTGCTAC	0.353		NA											4	59					0	0	0	0
MIA3	375056	broad.mit.edu	37	1	222802470	222802470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:222802470T>A	uc001hnl.2	+	4	1917	c.1908T>A	c.(1906-1908)GAT>GAA	p.D636E	MIA3_uc009xea.1_Missense_Mutation_p.D472E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	636	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)		CCTCTCCAGATGAGATTGATT	0.468		NA											35	158					0	0	0	0
NUP133	55746	broad.mit.edu	37	1	229637829	229637829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:229637829T>C	uc001htn.2	-	3	414	c.322A>G	c.(322-324)AAC>GAC	p.N108D		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	108					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCTATGTTAATGGTCAGC	0.363		NA											8	113					0	0	0	0
LYST	1130	broad.mit.edu	37	1	235827826	235827826	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:235827826T>C	uc001hxj.2	-	51	11309	c.11134A>G	c.(11134-11136)AAC>GAC	p.N3712D	LYST_uc001hxi.2_Missense_Mutation_p.N936D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3712	WD 6.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGCTGGTTGGAGAAAGCC	0.468		NA							Chediak-Higashi_syndrome				4	58					0	0	0	0
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr1:247769355C>T	uc010pyz.1	+	1	468	c.468C>T	c.(466-468)TCC>TCT	p.S156S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483		NA											4	139					0	0	0	0
CELF2	10659	broad.mit.edu	37	10	11047387	11047387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:11047387G>A	uc001iki.3	+	1	129	c.37G>A	c.(37-39)GAA>AAA	p.E13K	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.E13K	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	13	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TATGAGAAATGAAGAGCTGCT	0.398		NA											41	147					0	0	0	0
PTER	9317	broad.mit.edu	37	10	16526619	16526619	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:16526619C>G	uc001iog.1	+	3	443	c.236C>G	c.(235-237)GCC>GGC	p.A79G	PTER_uc001ioh.1_Missense_Mutation_p.A79G|PTER_uc001ioi.1_Missense_Mutation_p.A79G|PTER_uc009xjp.1_Missense_Mutation_p.A79G	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	79					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						GAGACAGAAGCCATAAAGGAA	0.393		NA											4	74					0	0	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508758	37508758	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:37508758T>A	uc001iza.1	+	34	4049	c.3950T>A	c.(3949-3951)ATA>AAA	p.I1317K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1373						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AATGAGGAGATATTTAATTAC	0.274		NA											4	2					0	0	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652607	62652607	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:62652607T>C	uc001jli.2	-	6	881	c.443A>G	c.(442-444)GAC>GGC	p.D148G	RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148G|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148G|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					AGCTTCCAGGTCGGCATAGCG	0.498		NA											12	47					0	0	0	0
FGFR2	2263	broad.mit.edu	37	10	123310907	123310907	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr10:123310907G>T	uc010qtk.1	-	5	1168	c.521C>A	c.(520-522)ACT>AAT	p.T174N	FGFR2_uc010qtg.1_Missense_Mutation_p.T174N|FGFR2_uc010qth.1_Missense_Mutation_p.T59N|FGFR2_uc010qti.1_Missense_Mutation_p.T85N|FGFR2_uc010qtj.1_Missense_Mutation_p.T174N|FGFR2_uc010qtl.1_Missense_Mutation_p.T174N|FGFR2_uc010qtm.1_Missense_Mutation_p.T59N|FGFR2_uc001lfl.3_Missense_Mutation_p.T174N|FGFR2_uc001lfm.2_Missense_Mutation_p.T85N|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.T193N|FGFR2_uc010qto.1_Missense_Mutation_p.T78N|FGFR2_uc001lfo.1_Missense_Mutation_p.T193N|FGFR2_uc010qtp.1_Missense_Mutation_p.T193N|FGFR2_uc010qtq.1_Missense_Mutation_p.T193N	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	174	Ig-like C2-type 2.|Heparin-binding.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAACTTGACAGTGTTGGCCGC	0.517		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				15	81					1.15e-07	1.4e-07	1	0
OR51B2	79345	broad.mit.edu	37	11	5344901	5344901	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:5344901A>G	uc001mao.1	-	1	682	c.627T>C	c.(625-627)TGT>TGC	p.C209C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATCAGACAGTCTAGGA	0.403		NA											5	24					0	0	0	0
OR10A2	341276	broad.mit.edu	37	11	6891056	6891056	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:6891056T>G	uc001meu.1	+	1	71	c.71T>G	c.(70-72)GTC>GGC	p.V24G		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	24	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTACCTGGTCACCCTGATG	0.448		NA											5	251					0	0	0	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	rs147577134		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:55927529G>A	uc010rja.1	-	1	265	c.265C>T	c.(265-267)CGA>TGA	p.R89*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393		NA											13	65					0	0	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604277	64604277	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:64604277G>C	uc001obs.3	-	11	1318	c.1318C>G	c.(1318-1320)CCC>GCC	p.P440A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	440	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TGGTCTGTGGGGGCGTGCAGG	0.701		NA											7	9					0	0	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926242	67926242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:67926242C>A	uc001onm.1	-	11	1827	c.1571G>T	c.(1570-1572)GGT>GTT	p.G524V	SUV420H1_uc009yse.1_Missense_Mutation_p.G110V|SUV420H1_uc001onn.1_Missense_Mutation_p.G352V|SUV420H1_uc009ysf.2_Missense_Mutation_p.G284V	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CGAATGAGCACCTCTCACAGG	0.552		NA											4	129					1.24e-05	1.46e-05	1	0
LRRC32	2615	broad.mit.edu	37	11	76371159	76371159	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:76371159A>T	uc001oxq.3	-	3	1721	c.1478T>A	c.(1477-1479)TTG>TAG	p.L493*	LRRC32_uc001oxr.3_Nonsense_Mutation_p.L493*|LRRC32_uc010rsf.1_Intron	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	493	Extracellular (Potential).|LRR 18.					integral to plasma membrane					0						CAGGACCTCCAAGGAGGCCTC	0.652		NA											7	31					0	0	0	0
GRIA4	2893	broad.mit.edu	37	11	105623796	105623796	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:105623796T>A	uc001pix.2	+	4	783	c.337T>A	c.(337-339)TTA>ATA	p.L113I	GRIA4_uc001piu.1_Missense_Mutation_p.L113I|GRIA4_uc001piw.2_Missense_Mutation_p.L113I|GRIA4_uc001piv.2_Missense_Mutation_p.L113I|GRIA4_uc009yxk.1_Missense_Mutation_p.L113I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	113	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGCAGCGCCTTACATATCTC	0.463		NA											18	72					0	0	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789510	117789510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:117789510G>C	uc001prs.1	-	2	158	c.65C>G	c.(64-66)GCC>GGC	p.A22G	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.A22G	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	22	4 X 5 AA repeats of T-P-P-G-R.|1-2.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.627		NA											9	52					0	0	0	0
MLL	4297	broad.mit.edu	37	11	118377362	118377362	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:118377362G>T	uc001pta.2	+	27	10768	c.10745_splice	c.e27+1	p.G3582_splice	MLL_uc001ptb.2_Splice_Site_p.G3585_splice	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia						apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGGCACAGGGTGAGAGATCC	0.483		NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								6	78					0.00116845	0.00129929	1	0
ROBO4	54538	broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:124763789G>A	uc001qbg.2	-	9	1611	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	ROBO4_uc010sas.1_Missense_Mutation_p.R346C|ROBO4_uc001qbh.2_Missense_Mutation_p.R381C|ROBO4_uc001qbi.2_Missense_Mutation_p.R49C|ROBO4_uc010sat.1_Missense_Mutation_p.R49C	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	491					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647		NA											4	17					0	0	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027943	134027943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr11:134027943T>C	uc001qhd.1	-	31	4660	c.4054A>G	c.(4054-4056)ATT>GTT	p.I1352V	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.I302V	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1352					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGATTGCAATGGTGCTCAGG	0.552		NA											38	137					0	0	0	0
C12orf4	57102	broad.mit.edu	37	12	4599038	4599038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:4599038G>C	uc001qms.2	-	14	1682	c.1594C>G	c.(1594-1596)CTT>GTT	p.L532V	C12orf4_uc001qmt.2_Missense_Mutation_p.L532V	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	532											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGTTACTAAGTTGATAAAAC	0.303		NA											30	35					0	0	0	0
CD9	928	broad.mit.edu	37	12	6342628	6342628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:6342628C>G	uc001qnp.1	+	5	768	c.324C>G	c.(322-324)ATC>ATG	p.I108M	CD9_uc010sev.1_Missense_Mutation_p.I108M|CD9_uc001qnq.1_Missense_Mutation_p.I108M	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	108	Helical; (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						CTGCGGCCATCTGGGGATATT	0.557		NA											29	38					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9313713	9313713	+	Splice_Site	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:9313713C>T	uc001qvl.2	-	23	2818	c.2789_splice	c.e23-1	p.G930_splice	PZP_uc009zgl.2_Splice_Site_p.G716_splice|PZP_uc010sgo.1_Splice_Site|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						ACATTAGCACCTTTAGAAACA	0.318		NA											7	57					0	0	0	0
C12orf35	55196	broad.mit.edu	37	12	32133942	32133942	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:32133942A>T	uc001rks.2	+	4	467	c.53A>T	c.(52-54)AAA>ATA	p.K18I		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	18										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CTGTATCCTAAAAGCCAGCCA	0.348		NA											19	30					0	0	0	0
METAP2	10988	broad.mit.edu	37	12	95887871	95887871	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:95887871A>G	uc001tec.2	+	5	602	c.468A>G	c.(466-468)AAA>AAG	p.K156K	METAP2_uc010suv.1_Silent_p.K133K|METAP2_uc009ztd.2_Silent_p.K120K|METAP2_uc001ted.2_Silent_p.K155K|METAP2_uc001tef.2_Silent_p.K133K|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	156					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	AAGAAAAGAAAGCATTAGATC	0.403		NA											3	54					0	0	0	0
APAF1	317	broad.mit.edu	37	12	99042256	99042256	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:99042256A>T	uc001tfz.2	+	2	696	c.119A>T	c.(118-120)GAG>GTG	p.E40V	APAF1_uc001tfy.2_Missense_Mutation_p.E40V|APAF1_uc001tga.2_Missense_Mutation_p.E40V|APAF1_uc001tgb.2_Missense_Mutation_p.E40V|APAF1_uc001tgc.2_Missense_Mutation_p.E40V	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	40	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	ATATCAGAAGAGGAAAAAGTA	0.348		NA											4	112					0	0	0	0
UTP20	27340	broad.mit.edu	37	12	101732715	101732715	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:101732715A>G	uc001tia.1	+	31	4149	c.3993A>G	c.(3991-3993)AAA>AAG	p.K1331K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1331					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AAGTCAGTAAAGAGCTTGGCA	0.299		NA											19	36					0	0	0	0
C12orf52	84934	broad.mit.edu	37	12	113629453	113629453	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:113629453C>G	uc001tur.1	+	4	1109	c.641C>G	c.(640-642)GCC>GGC	p.A214G	C12orf52_uc009zwg.1_Missense_Mutation_p.A211G|C12orf52_uc001tus.1_Missense_Mutation_p.A214G|C12orf52_uc001tut.1_Missense_Mutation_p.A238G	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	214	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						GGTCATCCAGCCACCAGTGCC	0.602		NA											3	62					0	0	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213541	122213541	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr12:122213541C>T	uc001ubc.3	+	12	1077	c.933C>T	c.(931-933)CTC>CTT	p.L311L	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	311	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCACCTTCCTCATCCTCTTCC	0.612		NA									OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	60					0	0	0	0
DCLK1	9201	broad.mit.edu	37	13	36382386	36382386	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:36382386C>A	uc001uvf.2	-	14	2071	c.1838G>T	c.(1837-1839)TGG>TTG	p.W613L	DCLK1_uc001uve.3_Missense_Mutation_p.W306L|DCLK1_uc010teh.1_Missense_Mutation_p.W306L|DCLK1_uc010abk.2_Missense_Mutation_p.W133L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	613	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AACATTATCCCAGTATGGAGA	0.428		NA											6	139					8.13e-05	9.33e-05	1	0
RBM26	64062	broad.mit.edu	37	13	79896555	79896555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr13:79896555G>C	uc001vkz.2	-	21	2883	c.2869C>G	c.(2869-2871)CTG>GTG	p.L957V	RBM26_uc001vky.2_Missense_Mutation_p.L928V|RBM26_uc001vla.2_Missense_Mutation_p.L931V|RBM26_uc010tia.1_Missense_Mutation_p.L312V|RBM26_uc001vkx.2_Missense_Mutation_p.L667V	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCCATGCCAGTTTTAGATCT	0.299		NA											21	17					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30046531	30046531	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:30046531C>A	uc001wqh.2	-	18	2833	c.2652G>T	c.(2650-2652)CTG>CTT	p.L884L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	884					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGATTGATCAGGTGTGTGG	0.527		NA											34	101					1.22e-17	1.55e-17	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68272336	68272337	+	Splice_Site	DNP	CT	CT	AC			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:68272336_68272337CT>AC	uc001xka.2	-	7	1157	c.1018_splice	c.e7-1	p.V340_splice	ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkc.3_Splice_Site_p.V340_splice|ZFYVE26_uc010tta.1_Splice_Site_p.V340_splice	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTGCTGTTACCTGTAAGTCAAA	0.431		NA											7	54					0	0	0	0
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:75369021C>G	uc001xqv.2	+	15	1413	c.1350C>G	c.(1348-1350)CTC>CTG	p.L450L	DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547		NA											15	56					0	0	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058474	95058474	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:95058474G>T	uc001ydm.2	+	6	1329	c.1119G>T	c.(1117-1119)AGG>AGT	p.R373S	SERPINA3_uc001ydo.3_Splice_Site	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	373		Reactive bond.			fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCACTTTCAGGTCGGCCCGCC	0.562		NA											9	442					0.000274275	0.000309829	1	0
PPP2R5C	5527	broad.mit.edu	37	14	102384193	102384193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102384193C>T	uc001yko.2	+	13	1492	c.1352C>T	c.(1351-1353)ACC>ATC	p.T451I	PPP2R5C_uc010txr.1_Missense_Mutation_p.T482I|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc001ykp.2_Intron	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	451					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						CAAGCCAGCACCATGAGCATT	0.502		NA											45	108					0	0	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552329	102552329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr14:102552329T>C	uc001yku.3	-	3	485	c.295A>G	c.(295-297)ACC>GCC	p.T99A	HSP90AA1_uc001ykv.3_Missense_Mutation_p.T221A|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.T88A	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	99					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCAGCCTTGGTCATTCCAATT	0.433		NA											4	85					0	0	0	0
BAHD1	22893	broad.mit.edu	37	15	40756083	40756083	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:40756083A>G	uc001zlu.2	+	4	1910	c.1839A>G	c.(1837-1839)CGA>CGG	p.R613R	BAHD1_uc001zlt.2_Silent_p.R612R|BAHD1_uc010bbp.1_Silent_p.R612R|BAHD1_uc001zlv.2_Silent_p.R613R	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCCATCCGAAAGAGCTACC	0.552		NA											7	14					0	0	0	0
RPAP1	26015	broad.mit.edu	37	15	41814044	41814044	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:41814044G>C	uc001zod.2	-	21	3054	c.2930C>G	c.(2929-2931)GCC>GGC	p.A977G	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	977	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGATAGAGGGCAGCATGGGT	0.602		NA											3	26					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43819557	43819557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:43819557G>C	uc001zrt.2	+	4	6353	c.5886G>C	c.(5884-5886)GAG>GAC	p.E1962D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1962						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATCCTGATGAGAGAAGCTTTC	0.562		NA											24	62					0	0	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500299	48500299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:48500299G>A	uc001zwn.3	+	2	599	c.383G>A	c.(382-384)CGA>CAA	p.R128Q	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.R128Q|SLC12A1_uc010uex.1_Missense_Mutation_p.R128Q	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	128	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGGTCAACCGACCCAGCCTG	0.473		NA											13	48					0	0	0	0
WDR72	256764	broad.mit.edu	37	15	53998227	53998227	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:53998227T>C	uc002acj.2	-	10	1041	c.999A>G	c.(997-999)AAA>AAG	p.K333K	WDR72_uc010bfi.1_Silent_p.K333K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	333	WD 4.									lung(1)|skin(1)	2				all cancers(107;0.0511)		AAAAAGGCTCTTTCCTTTCAT	0.403		NA											4	31					0	0	0	0
ARNT2	9915	broad.mit.edu	37	15	80762647	80762647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80762647G>T	uc002bfr.2	+	4	449	c.283G>T	c.(283-285)GCA>TCA	p.A95S	ARNT2_uc002bfq.2_Missense_Mutation_p.A95S|ARNT2_uc010unm.1_Missense_Mutation_p.A84S|ARNT2_uc002bfs.2_Missense_Mutation_p.A84S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	95	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACATGCAGCGCACTGGCTCG	0.552		NA											13	31					1.36e-13	1.71e-13	1	0
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	T	rs144530385		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:80872870C>T	uc002bfr.2	+	16	1898	c.1732C>T	c.(1732-1734)CGT>TGT	p.R578C	ARNT2_uc010unm.1_Missense_Mutation_p.R567C|ARNT2_uc002bfs.2_Missense_Mutation_p.R567C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567		NA											15	39					0	0	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447520	91447520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr15:91447520G>A	uc010bnz.2	+	2	198	c.83G>A	c.(82-84)CGA>CAA	p.R28Q	MAN2A2_uc010boa.2_Missense_Mutation_p.R70Q|MAN2A2_uc002bqc.2_Missense_Mutation_p.R28Q|MAN2A2_uc010uql.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	28	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGCTGGACCGAGTGCAACAC	0.547		NA											23	76					0	0	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262016	1262016	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:1262016T>C	uc002cks.2	+	25	4885	c.4637T>C	c.(4636-4638)GTG>GCG	p.V1546A	CACNA1H_uc002ckt.2_Missense_Mutation_p.V1546A|CACNA1H_uc002cku.2_Missense_Mutation_p.V252A|CACNA1H_uc010brj.2_Missense_Mutation_p.V252A|CACNA1H_uc002ckv.2_Missense_Mutation_p.V252A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1546	Helical; Name=S6 of repeat III; (Potential).|III.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCTTCTTCGTGCTCAACATG	0.642		NA											98	175					0	0	0	0
UMOD	7369	broad.mit.edu	37	16	20347992	20347992	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:20347992T>C	uc002dgz.2	-	9	1927	c.1798A>G	c.(1798-1800)AAC>GAC	p.N600D	UMOD_uc002dha.2_Missense_Mutation_p.N600D|UMOD_uc002dhb.2_Missense_Mutation_p.N633D	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						GGACCCAAGTTCAGGACACGG	0.527		NA											6	47					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802394	24802394	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:24802394A>G	uc002dmm.2	+	6	2545	c.2431A>G	c.(2431-2433)ACA>GCA	p.T811A	TNRC6A_uc010bxs.2_Missense_Mutation_p.T558A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T558A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T558A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T558A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	811	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCTGCTACAGGAATGGT	0.517		NA											9	29					0	0	0	0
NOD2	64127	broad.mit.edu	37	16	50733835	50733835	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:50733835C>T	uc002egm.1	+	2	615	c.510C>T	c.(508-510)ATC>ATT	p.I170I	NOD2_uc010cbj.1_Silent_p.I143I|NOD2_uc010cbk.1_Silent_p.I143I|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	170	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GTGATGAAATCAGGTTGCCGA	0.552		NA											19	41					0	0	0	0
RANBP10	57610	broad.mit.edu	37	16	67778258	67778258	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67778258G>A	uc002eud.2	-	4	617	c.501C>T	c.(499-501)GAC>GAT	p.D167D	RANBP10_uc010ceo.2_Translation_Start_Site|RANBP10_uc010vju.1_Intron|RANBP10_uc010vjv.1_Silent_p.D50D|RANBP10_uc010vjx.1_Silent_p.D167D|RANBP10_uc010vjy.1_Silent_p.D35D	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	167	B30.2/SPRY.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCGATCACGTCTCCTGTGG	0.547		NA											19	79					0	0	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860602	67860602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:67860602C>A	uc002euj.2	+	12	1641	c.1247C>A	c.(1246-1248)ACG>AAG	p.T416K	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.T293K|TSNAXIP1_uc002euf.3_Missense_Mutation_p.T149K|TSNAXIP1_uc010vka.1_Missense_Mutation_p.T470K|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.T401K|TSNAXIP1_uc002eug.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euh.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002eui.3_Missense_Mutation_p.T124K|TSNAXIP1_uc002euk.2_Missense_Mutation_p.T149K	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	416					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGAAAGAGACGTTCCCAGAT	0.493		NA											42	83					3.43e-23	4.36e-23	1	0
COG4	25839	broad.mit.edu	37	16	70548314	70548314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:70548314C>A	uc002ezc.2	-	4	479	c.468G>T	c.(466-468)GAG>GAT	p.E156D	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E156D|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	152	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CTGCAGCCTGCTCATAATCTT	0.353		NA											11	50					3.07e-06	3.66e-06	1	0
HP	3240	broad.mit.edu	37	16	72094609	72094609	+	Silent	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:72094609A>G	uc002fbr.3	+	7	1085	c.1041A>G	c.(1039-1041)CAA>CAG	p.Q347Q	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.Q288Q|HP_uc002fbt.3_Silent_p.Q288Q|HP_uc002fbu.1_Silent_p.Q85Q|HP_uc002fbv.3_Silent_p.Q258Q|HP_uc002fbw.3_Silent_p.Q169Q|HP_uc002fbx.3_Silent_p.Q169Q|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	347	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTAAGTACCAAGAAGACACCT	0.537		NA											8	115					0	0	0	0
TUBB3	10381	broad.mit.edu	37	16	90001910	90001910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr16:90001910G>T	uc002fph.1	+	4	1116	c.1051G>T	c.(1051-1053)GTG>TTG	p.V351L	TUBB3_uc002fpf.2_Missense_Mutation_p.V698L|TUBB3_uc010ciz.1_Missense_Mutation_p.V279L|TUBB3_uc002fpg.1_Missense_Mutation_p.V205L|TUBB3_uc002fpi.1_Missense_Mutation_p.V279L|TUBB3_uc002fpj.1_Missense_Mutation_p.V279L|TUBB3_uc010cjb.1_Missense_Mutation_p.V205L|TUBB3_uc002fpk.1_Missense_Mutation_p.V205L	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	351					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CAACGTGAAGGTGGCCGTGTG	0.612		NA											15	250					0.000308642	0.000347731	1	0
YWHAE	7531	broad.mit.edu	37	17	1268247	1268247	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:1268247C>A	uc002fsj.2	-	2	322	c.170G>T	c.(169-171)AGA>ATA	p.R57I	YWHAE_uc002fsk.2_Missense_Mutation_p.R35I|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	57		Interaction with phosphoserine on interacting protein.			apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCAGGAGGCTCTTCTAGCTCC	0.423		NA											5	142					3.6e-05	4.19e-05	1	0
MYH1	4619	broad.mit.edu	37	17	10395815	10395815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:10395815C>T	uc002gmo.2	-	40	5832	c.5738G>A	c.(5737-5739)CGG>CAG	p.R1913Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1913	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AATGTCAGCCCGTTCCTCGGC	0.483		NA											4	165					0	0	0	0
GOSR1	9527	broad.mit.edu	37	17	28849344	28849344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:28849344G>A	uc002hfe.2	+	9	727	c.701G>A	c.(700-702)GGG>GAG	p.G234E	GOSR1_uc002hfd.2_Missense_Mutation_p.G232E|GOSR1_uc002hff.2_Missense_Mutation_p.G169E	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	234	Helical; Anchor for type IV membrane protein; (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0						CTCATCCTAGGGGGTGTTATT	0.498		NA											8	395					0	0	0	0
CCL23	6368	broad.mit.edu	37	17	34341417	34341417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:34341417G>T	uc002hkt.1	-	2	164	c.93C>A	c.(91-93)TTC>TTA	p.F31L	CCL23_uc002hks.1_Missense_Mutation_p.F31L	NM_145898	NP_665905	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8	31				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TTGACATCATGAACTCTGTCT	0.483		NA											9	30					3.1e-07	3.76e-07	1	0
MLLT6	4302	broad.mit.edu	37	17	36868952	36868952	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:36868952G>A	uc002hqi.3	+	8	742	c.729G>A	c.(727-729)AAG>AAA	p.K243K	MLLT6_uc010wdr.1_Silent_p.K243K|MLLT6_uc010cvm.1_Silent_p.K243K|MLLT6_uc002hqj.2_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	243					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					AGAGTCGAAAGGACAAAGAAC	0.592		NA	T	MLL	AL								4	80					0	0	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280340	39280340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr17:39280340T>C	uc002hwa.2	-	1	80	c.35A>G	c.(34-36)GAC>GGC	p.D12G		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	12	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCCCTGGTCAGAGCACAC	0.617		NA											23	108					0	0	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549224	44549224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:44549224G>A	uc010dnr.2	-	1	1075	c.1075C>T	c.(1075-1077)CCC>TCC	p.P359S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_001100817	NP_001094287	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	359	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						ACCGAGTAGGGGACCCCTTCC	0.637		NA											9	546					0	0	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390542	61390542	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr18:61390542C>T	uc002ljk.3	+	9	1150	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	SERPINB11_uc010xes.1_Missense_Mutation_p.A188V|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.A249V|SERPINB11_uc010dqe.2_Missense_Mutation_p.A162V|SERPINB11_uc010dqf.2_Missense_Mutation_p.A161V	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	363	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				CCAATGAGAGCTCAGTTCAAG	0.517		NA											29	66					0	0	0	0
EMR1	2015	broad.mit.edu	37	19	6926416	6926416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:6926416T>G	uc002mfw.2	+	16	2064	c.2026T>G	c.(2026-2028)TTC>GTC	p.F676V	EMR1_uc010dvc.2_Missense_Mutation_p.F611V|EMR1_uc010dvb.2_Missense_Mutation_p.F624V|EMR1_uc010xji.1_Missense_Mutation_p.F535V|EMR1_uc010xjj.1_Missense_Mutation_p.F499V	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	676	Helical; Name=3; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					GCACTACCTTTTCCTTGCCTG	0.517		NA											16	78					0	0	0	0
FCER2	2208	broad.mit.edu	37	19	7754314	7754314	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7754314T>G	uc002mhn.2	-	11	915	c.731A>C	c.(730-732)AAC>ACC	p.N244T	FCER2_uc010xjs.1_Missense_Mutation_p.N166T|FCER2_uc010xjt.1_Missense_Mutation_p.N166T|FCER2_uc002mhm.2_Missense_Mutation_p.N244T	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	244	C-type lectin.|Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						TGGAGCCCAGTTGCTGGAGCA	0.667		NA											2	7					0	0	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794310	7794310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:7794310T>C	uc002mhp.3	-	9	893	c.824A>G	c.(823-825)GAC>GGC	p.D275G		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	275	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0						ACACGGTGCGTCGTTCCACAG	0.632		NA											3	47					0	0	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119198	18119198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:18119198G>A	uc002nhv.2	+	1	222	c.79G>A	c.(79-81)GGC>AGC	p.G27S	ARRDC2_uc002nhu.2_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	27										pancreas(1)	1						GTTTAGCGGCGGCCAGGCCGT	0.726		NA											8	26					0	0	0	0
NUDT19	390916	broad.mit.edu	37	19	33200163	33200163	+	Missense_Mutation	SNP	G	G	A	rs149924778	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:33200163G>A	uc010edf.2	+	2	787	c.787G>A	c.(787-789)GAA>AAA	p.E263K		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	263	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					ACAGTTCTACGAAGTGAGAAG	0.443		NA											11	234					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40367841T>G	uc002omp.3	-	29	13127	c.13119A>C	c.(13117-13119)GCA>GCC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4373	TIL 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627		NA											11	24					0	0	0	0
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:42471441G>A	uc002osg.2	-	22	3127	c.2973C>T	c.(2971-2973)TAC>TAT	p.Y991Y	ATP1A3_uc010xwf.1_Silent_p.Y1002Y|ATP1A3_uc010xwg.1_Silent_p.Y961Y|ATP1A3_uc010xwh.1_Silent_p.Y1004Y|ATP1A3_uc002osh.2_Silent_p.Y991Y	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	991	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGATTTCGTCGTAGACGAAGA	0.652		NA											22	29					0	0	0	0
GRLF1	2909	broad.mit.edu	37	19	47423097	47423097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:47423097G>C	uc010ekv.2	+	1	1165	c.1165G>C	c.(1165-1167)GAT>CAT	p.D389H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	389	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GACCCCATGGGATGCCACCAG	0.448		NA											29	97					0	0	0	0
CACNG8	59283	broad.mit.edu	37	19	54466493	54466493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:54466493G>A	uc002qcs.1	+	1	200	c.94G>A	c.(94-96)GGC>AGC	p.G32S		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	33	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCCGCCTTCGGCCTCATGAC	0.667		NA											9	23					0	0	0	0
ZNF446	55663	broad.mit.edu	37	19	58991738	58991738	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:58991738C>T	uc002qsz.2	+	7	1115	c.998C>T	c.(997-999)ACG>ATG	p.T333M	ZNF446_uc002qta.2_Missense_Mutation_p.R305C|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	333	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCCCTACACGTGCGAGCAG	0.682		NA											7	22					0	0	0	0
XDH	7498	broad.mit.edu	37	2	31600014	31600014	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31600014T>A	uc002rnv.1	-	14	1411	c.1332A>T	c.(1330-1332)CCA>CCT	p.P444P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	444					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGTGGTTCCTGGCTTGAATA	0.502		NA											6	94					0	0	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805847	31805847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:31805847G>A	uc002rnw.1	-	2	195	c.124C>T	c.(124-126)CCG>TCG	p.P42S		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	42					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTAGCCGCCGGCTTCAGGCTC	0.721		NA											8	27					0	0	0	0
C2orf63	130162	broad.mit.edu	37	2	55407665	55407666	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55407665_55407666CT>AA	uc002ryi.2	-	11	1710_1711	c.1364_1365AG>TT	c.(1363-1365)CAG>CTT	p.Q455L	C2orf63_uc002ryh.2_Missense_Mutation_p.Q6L|C2orf63_uc002ryj.2_Missense_Mutation_p.Q333L	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	455							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AGTCCTTCAACTGCTGTATGTA	0.391		NA											4	74					0	0	0	0
CCDC88A	55704	broad.mit.edu	37	2	55539617	55539617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:55539617C>G	uc002ryv.2	-	23	4871	c.4029G>C	c.(4027-4029)CAG>CAC	p.Q1343H	CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1344H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1343H|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q626H|CCDC88A_uc002rys.2_Missense_Mutation_p.Q329H|CCDC88A_uc002ryw.2_Missense_Mutation_p.Q627H|CCDC88A_uc010fby.1_Missense_Mutation_p.Q223H	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1344	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTTCCATATTCTGCTCCAAAA	0.328		NA											13	54					0	0	0	0
ANKRD36	375248	broad.mit.edu	37	2	97845475	97845475	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:97845475T>G	uc010yva.1	+	23	1878	c.1634T>G	c.(1633-1635)GTG>GGG	p.V545G	ANKRD36_uc010fic.2_Missense_Mutation_p.V264G|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	545											0						TGCTTTTCAGTGTCTTCTCAG	0.299		NA											4	36					0	0	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:108625031G>T	uc002tdv.2	+	8	1282	c.1006G>T	c.(1006-1008)GGT>TGT	p.G336C	SLC5A7_uc010ywm.1_Missense_Mutation_p.G89C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G336C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G223C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	336	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443		NA											9	39					0.00448238	0.00492025	1	0
RANBP2	5903	broad.mit.edu	37	2	109383950	109383950	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:109383950C>G	uc002tem.3	+	20	7081	c.6955C>G	c.(6955-6957)CTA>GTA	p.L2319V		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2319	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTTACCTGATCTAGTTGAAGT	0.393		NA											102	164					0	0	0	0
HOXD12	3238	broad.mit.edu	37	2	176964535	176964535	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:176964535T>C	uc010zev.1	+	1	6	c.6T>C	c.(4-6)TGT>TGC	p.C2C	HOXD12_uc010zew.1_Silent_p.C2C	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	2						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGGAGATGTGTGAGCGCAGTC	0.542		NA											76	85					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179602873	179602873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:179602873C>G	uc010zfg.1	-	46	10799	c.10575G>C	c.(10573-10575)GAG>GAC	p.E3525D	TTN_uc010zfh.1_Missense_Mutation_p.E4598D|TTN_uc010zfi.1_Missense_Mutation_p.E4531D|TTN_uc010zfj.1_Missense_Mutation_p.E4406D|TTN_uc002umz.1_Missense_Mutation_p.E186D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4452							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)			TGCATGTATACTCGCCGCAGT	0.453		NA											11	65					0	0	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128057	233128057	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:233128057C>T	uc010fxz.2	+	13	1842	c.1566C>T	c.(1564-1566)AGC>AGT	p.S522S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	522							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCATAGCAGCGAGGAGGTAC	0.542		NA											14	59					0	0	0	0
USP40	55230	broad.mit.edu	37	2	234465540	234465540	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:234465540C>G	uc010zmu.1	-	5	625	c.507G>C	c.(505-507)CAG>CAC	p.Q169H	USP40_uc010zmr.1_Missense_Mutation_p.Q181H			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	169					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)		TACAAACAATCTGGTTAACAA	0.368		NA											10	39					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	236877176	236877176	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:236877176G>C	uc002vvs.2	+	13	2149	c.1554G>C	c.(1552-1554)CCG>CCC	p.P518P	AGAP1_uc002vvt.2_Silent_p.P465P	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	518	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AGCTCGACCCGCCCCCCTCCC	0.577		NA											4	54					0	0	0	0
NOP56	10528	broad.mit.edu	37	20	2636321	2636321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:2636321A>G	uc002wgh.2	+	7	891	c.838A>G	c.(838-840)AGC>GGC	p.S280G	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.S114G|NOP56_uc002wgm.1_Missense_Mutation_p.S27G|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	280	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						ATACCGCCAGAGCCTACACAC	0.512		NA											19	160					0	0	0	0
CENPB	1059	broad.mit.edu	37	20	3766487	3766487	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766487T>C	uc002wjk.2	-	1	851	c.644A>G	c.(643-645)GAC>GGC	p.D215G	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	215					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CGGCCGTCCGTCGCCTCCGCA	0.711		NA											14	144					0	0	0	0
CENPB	1059	broad.mit.edu	37	20	3766501	3766501	+	Silent	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:3766501C>A	uc002wjk.2	-	1	837	c.630G>T	c.(628-630)GGG>GGT	p.G210G	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	210					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CTCCGCACAGCCCCGCGGCCT	0.711		NA											19	143					2.46e-09	3.02e-09	1	0
SNTA1	6640	broad.mit.edu	37	20	32026759	32026759	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:32026759G>A	uc002wzd.1	-	2	656	c.384C>T	c.(382-384)GCC>GCT	p.A128A	SNTA1_uc010zuf.1_Silent_p.A128A	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	128	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						CCACAAAAAGGGCCTCTGTCT	0.542		NA											5	305					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	40710644	40710644	+	Missense_Mutation	SNP	G	G	T	rs144244064		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:40710644G>T	uc002xkg.2	-	30	4334	c.4150C>A	c.(4150-4152)CGT>AGT	p.R1384S	PTPRT_uc010ggj.2_Missense_Mutation_p.R1403S|PTPRT_uc010ggi.2_Missense_Mutation_p.R587S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1384	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1406C(1)		skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTCCACTACGGCCTCCCCCA	0.483		NA											5	171					5.94e-07	7.16e-07	1	0
SGK2	10110	broad.mit.edu	37	20	42195754	42195754	+	Missense_Mutation	SNP	C	C	T	rs141029147		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:42195754C>T	uc002xkv.2	+	2	482	c.263C>T	c.(262-264)CCA>CTA	p.P88L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.P28L|SGK2_uc010ggm.2_Missense_Mutation_p.P28L|SGK2_uc002xks.2_Missense_Mutation_p.P28L|SGK2_uc002xku.2_Missense_Mutation_p.P28L|SGK2_uc002xkq.1_Missense_Mutation_p.P28L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	88					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCAACCCAAAGTGAGTT	0.512		NA											4	76					0	0	0	0
WFDC3	140686	broad.mit.edu	37	20	44416545	44416545	+	Silent	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:44416545T>C	uc002xpf.1	-	4	372	c.288A>G	c.(286-288)CCA>CCG	p.P96P	WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	96	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TCTTTACACCTGGACATGTCT	0.473		NA											14	133					0	0	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500552	48500552	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:48500552G>T	uc002xuv.1	+	14	1650	c.1440G>T	c.(1438-1440)AAG>AAT	p.K480N	SLC9A8_uc010zym.1_Missense_Mutation_p.K180N|SLC9A8_uc010gic.2_Missense_Mutation_p.K180N|SLC9A8_uc010gid.2_Missense_Mutation_p.K104N	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	480						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AGGACGCCAAGGCACACCGCA	0.612		NA											5	175					5.94e-07	7.16e-07	1	0
NFATC2	4773	broad.mit.edu	37	20	50140072	50140072	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50140072C>T	uc002xwd.2	-	2	928	c.708G>A	c.(706-708)TCG>TCA	p.S236S	NFATC2_uc002xwc.2_Silent_p.S236S|NFATC2_uc010zyv.1_Silent_p.S17S|NFATC2_uc010zyw.1_Silent_p.S17S|NFATC2_uc010zyx.1_Silent_p.S216S|NFATC2_uc010zyy.1_Silent_p.S17S|NFATC2_uc010zyz.1_Silent_p.S17S|NFATC2_uc002xwe.2_Silent_p.S216S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	236	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GGGGCACGGGCGAGTGGCGGC	0.667		NA											22	200					0	0	0	0
ZFP64	55734	broad.mit.edu	37	20	50705115	50705115	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:50705115G>A	uc002xwk.2	-	8	1393	c.1044C>T	c.(1042-1044)CAC>CAT	p.H348H	ZFP64_uc002xwj.2_Silent_p.H129H	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	305	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCACCGCATGTGCATGGTCA	0.522		NA											83	121					0	0	0	0
TCFL5	10732	broad.mit.edu	37	20	61490757	61490757	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr20:61490757C>G	uc002ydp.2	-	3	1046	c.953G>C	c.(952-954)AGA>ACA	p.R318T	TCFL5_uc002ydo.2_Missense_Mutation_p.R91T|TCFL5_uc002ydq.2_Missense_Mutation_p.R318T	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	318					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					AACTTTGTTTCTACTACCTAA	0.443		NA											35	329					0	0	0	0
SYNJ1	8867	broad.mit.edu	37	21	34025655	34025655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34025655C>A	uc002yqh.2	-	22	2934	c.2934G>T	c.(2932-2934)TGG>TGT	p.W978C	SYNJ1_uc011ads.1_Missense_Mutation_p.W934C|SYNJ1_uc002yqf.2_Missense_Mutation_p.W939C|SYNJ1_uc002yqg.2_Missense_Mutation_p.W934C|SYNJ1_uc002yqi.2_Missense_Mutation_p.W978C	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	939	RRM.|Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						AAAATGTAACCCACATTTTAT	0.323		NA											4	37					0.00909568	0.00983255	1	0
SYNJ1	8867	broad.mit.edu	37	21	34072212	34072212	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34072212A>T	uc002yqh.2	-	4	532	c.532T>A	c.(532-534)TTA>ATA	p.L178I	SYNJ1_uc011ads.1_Missense_Mutation_p.L139I|SYNJ1_uc002yqf.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqg.2_Missense_Mutation_p.L139I|SYNJ1_uc002yqi.2_Missense_Mutation_p.L178I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	139	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CTCAAATCTAAACTGATGCCA	0.388		NA											6	24					0	0	0	0
CRYZL1	9946	broad.mit.edu	37	21	34997056	34997056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr21:34997056G>T	uc011adw.1	-	3	257	c.77C>A	c.(76-78)CCT>CAT	p.P26H	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.P50H|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Missense_Mutation_p.P26H	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	26					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						CTCTGTAACAGGAAGATCTTC	0.299		NA											14	57					1.36e-06	1.64e-06	1	0
RTN4R	65078	broad.mit.edu	37	22	20229737	20229737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:20229737G>A	uc002zrv.2	-	2	1120	c.919C>T	c.(919-921)CAG>TAG	p.Q307*	RTN4R_uc002zru.2_Nonsense_Mutation_p.Q79*	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	307	LRRCT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GCGCAGCCCTGCAGGTCATTG	0.682		NA											7	12					0	0	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Nonsense_Mutation	SNP	G	G	T	rs121918714		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:30732963G>T	uc003ceo.2	+	7	1958	c.1576G>T	c.(1576-1578)GAG>TAG	p.E526*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.E551*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	526	Protein kinase.|Cytoplasmic (Potential).		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						CCACGACCCAGAGGCCCGTCT	0.602		NA											32	26					2.08e-15	2.63e-15	1	0
SCN11A	11280	broad.mit.edu	37	3	38888436	38888436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:38888436C>G	uc011ays.1	-	26	5324	c.5125G>C	c.(5125-5127)GAG>CAG	p.E1709Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1709					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAACTTCTCTTCCATCATT	0.458		NA											30	95					0	0	0	0
CCR2	729230	broad.mit.edu	37	3	46399419	46399419	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:46399419T>A	uc003cpn.3	+	2	886	c.401T>A	c.(400-402)CTG>CAG	p.L134Q	CCR2_uc003cpm.3_Missense_Mutation_p.L134Q	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	134	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATCATCCTCCTGACAATCGAT	0.463		NA											22	419					0	0	0	0
ZBTB11	27107	broad.mit.edu	37	3	101375081	101375081	+	Missense_Mutation	SNP	C	C	G	rs144559723		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:101375081C>G	uc003dve.3	-	7	2288	c.2058G>C	c.(2056-2058)AAG>AAC	p.K686N		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	686	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGATAAAAGTCTTTCCACAGA	0.333		NA											7	32					0	0	0	0
TRH	7200	broad.mit.edu	37	3	129695649	129695649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:129695649G>T	uc003enc.2	+	3	880	c.319G>T	c.(319-321)GCT>TCT	p.A107S		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	107					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						agaagggggggCTGTGGGACC	0.428		NA											5	80					0.000602214	0.000674923	1	0
STAG1	10274	broad.mit.edu	37	3	136219098	136219098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:136219098G>C	uc003era.1	-	9	1161	c.869C>G	c.(868-870)TCT>TGT	p.S290C	STAG1_uc003erb.1_Missense_Mutation_p.S290C|STAG1_uc003erc.1_Missense_Mutation_p.S64C|STAG1_uc010hua.1_Missense_Mutation_p.S153C|STAG1_uc003erd.2_Missense_Mutation_p.S193C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	290					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CTTAAAAATAGAGTTCATCAT	0.279		NA											4	8					0	0	0	0
CLDN18	51208	broad.mit.edu	37	3	137749921	137749921	+	Missense_Mutation	SNP	G	G	A	rs141484279		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137749921G>A	uc003ero.1	+	5	777	c.724G>A	c.(724-726)GAT>AAT	p.D242N	CLDN18_uc003erp.1_Missense_Mutation_p.D242N|CLDN18_uc010hue.1_Missense_Mutation_p.D198N	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	242	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAAGATATACGATGGAGGTGC	0.517		NA											27	149					0	0	0	0
RASA2	5922	broad.mit.edu	37	3	141328366	141328366	+	Splice_Site	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:141328366G>T	uc003etz.1	+	22	2329	c.2329_splice	c.e22+1	p.E777_splice	RASA2_uc010huq.1_Splice_Site_p.E781_splice|RASA2_uc003eua.1_Splice_Site_p.E778_splice	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						AAGATGGAAGGTAAATACACA	0.303		NA											5	54					3.6e-05	4.19e-05	1	0
ATR	545	broad.mit.edu	37	3	142215313	142215313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142215313C>T	uc003eux.3	-	34	5910	c.5788G>A	c.(5788-5790)GTA>ATA	p.V1930I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1930	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTTCTAGCTACCCTGGCACTC	0.488		NA						Other_conserved_DNA_damage_response_genes					4	97					0	0	0	0
ATR	545	broad.mit.edu	37	3	142281919	142281919	+	Missense_Mutation	SNP	G	G	A	rs146405935	by1000genomes	TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:142281919G>A	uc003eux.3	-	4	447	c.325C>T	c.(325-327)CGG>TGG	p.R109W		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	109					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GCTGCAATCCGCAGAAGTCTC	0.313		NA						Other_conserved_DNA_damage_response_genes					5	158					0	0	0	0
FAM53A	152877	broad.mit.edu	37	4	1656773	1656773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:1656773G>A	uc011bve.1	-	4	1012	c.814C>T	c.(814-816)CGC>TGC	p.R272C	FAM53A_uc010ibw.2_Missense_Mutation_p.R272C	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	272	Nuclear localization signal (Potential).					nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTCCGTTTGCGCCGGCTCCTC	0.667		NA											11	40					0	0	0	0
EVC2	132884	broad.mit.edu	37	4	5627547	5627547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:5627547C>T	uc003gij.2	-	13	2029	c.1975G>A	c.(1975-1977)GAC>AAC	p.D659N	EVC2_uc011bwb.1_Missense_Mutation_p.D99N|EVC2_uc003gik.2_Missense_Mutation_p.D579N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	659	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TGCTTTAAGTCATTGTCCAAC	0.383		NA											19	124					0	0	0	0
TLR1	7096	broad.mit.edu	37	4	38800207	38800207	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:38800207C>T	uc003gtl.2	-	4	520	c.246G>A	c.(244-246)CAG>CAA	p.Q82Q		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	82	Extracellular (Potential).|LRR 2.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TATCAAGATACTGGATTCTAT	0.343		NA											8	192					0	0	0	0
SLAIN2	57606	broad.mit.edu	37	4	48380075	48380075	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:48380075C>G	uc003gya.3	+	3	845	c.701C>G	c.(700-702)TCA>TGA	p.S234*		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	234						centrosome					0						CCTGGAAATTCAGGTAAGGAG	0.398		NA											3	128					0	0	0	0
LRRC66	339977	broad.mit.edu	37	4	52861436	52861436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:52861436T>C	uc003gzi.2	-	4	1765	c.1752A>G	c.(1750-1752)ATA>ATG	p.I584M		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	584						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAAGCTGTTATTTCTCCGG	0.498		NA											7	247					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66213889	66213889	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66213889T>A	uc003hcy.2	-	15	2734	c.2541A>T	c.(2539-2541)CCA>CCT	p.P847P	EPHA5_uc003hcx.2_Silent_p.P779P|EPHA5_uc003hcz.2_Silent_p.P825P|EPHA5_uc011cah.1_Silent_p.P848P|EPHA5_uc011cai.1_Silent_p.P826P|EPHA5_uc003hda.2_Silent_p.P848P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	847	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTATTGCTTCTGGGGCAGTCC	0.413		NA								TSP Lung(17;0.13)			13	50					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66217243	66217243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:66217243A>G	uc003hcy.2	-	14	2565	c.2372T>C	c.(2371-2373)CTT>CCT	p.L791P	EPHA5_uc003hcx.2_Missense_Mutation_p.L723P|EPHA5_uc003hcz.2_Missense_Mutation_p.L769P|EPHA5_uc011cah.1_Missense_Mutation_p.L792P|EPHA5_uc011cai.1_Missense_Mutation_p.L770P|EPHA5_uc003hda.2_Missense_Mutation_p.L792P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	791	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CATGTCAGAAAGGTACTTCAT	0.423		NA								TSP Lung(17;0.13)			8	29					0	0	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944475	148944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr4:148944475C>G	uc003ilf.2	+	19	1778	c.1778C>G	c.(1777-1779)CCA>CGA	p.P593R	ARHGAP10_uc003ilg.2_Missense_Mutation_p.P242R|ARHGAP10_uc003ilh.2_Missense_Mutation_p.P174R|ARHGAP10_uc003ili.2_Missense_Mutation_p.P26R	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	593					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCATCACCCCCAAATGCGCCA	0.512		NA											9	57					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13762885	13762885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:13762885C>T	uc003jfd.2	-	60	10269	c.10227G>A	c.(10225-10227)TGG>TGA	p.W3409*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3409	Stalk (By similarity).		W -> S (in CILD3).		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)					TAGCTTTCGTCCAGGAACAAA	0.448		NA							Kartagener_syndrome				29	106					0	0	0	0
CARD6	84674	broad.mit.edu	37	5	40852441	40852441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:40852441G>A	uc003jmg.2	+	3	1082	c.1007G>A	c.(1006-1008)CGA>CAA	p.R336Q		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	336					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						GTTCAAGCACGAGATGTGACC	0.458		NA											12	83					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	rs140758934		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:45262321G>A	uc003jok.2	-	8	2400	c.2375C>T	c.(2374-2376)TCG>TTG	p.S792L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	792	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ATGGGGCAGCGAGGGCTGCGA	0.637		NA											13	151					0	0	0	0
ITGA1	3672	broad.mit.edu	37	5	52211331	52211331	+	Missense_Mutation	SNP	T	T	G	rs138709169		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:52211331T>G	uc003jou.2	+	15	1947	c.1895T>G	c.(1894-1896)TTT>TGT	p.F632C	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.F163C	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	632	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACACTGAAATTTTTTGGCCAG	0.423		NA											3	143					0	0	0	0
ISCA1P1	389293	broad.mit.edu	37	5	62073029	62073029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:62073029G>C	uc003jtf.2	-	1	142	c.62C>G	c.(61-63)ACC>AGC	p.T21S		NM_001080540	NP_001074009			iron-sulfur cluster assembly 1 homolog (S.												0						GGCTGCCCGGGTGGGCTGCAG	0.582		NA											20	12					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90040951	90040951	+	Silent	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:90040951T>A	uc003kju.2	+	51	10734	c.10638T>A	c.(10636-10638)CCT>CCA	p.P3546P	GPR98_uc003kjt.2_Silent_p.P1252P|GPR98_uc003kjv.2_Silent_p.P1146P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3546	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAGTACCTTCTGCTTATG	0.408		NA											9	287					0	0	0	0
PSD2	84249	broad.mit.edu	37	5	139193154	139193154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:139193154C>A	uc003leu.1	+	3	837	c.632C>A	c.(631-633)GCA>GAA	p.A211E		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	211					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGGGGGCAGCTGGTGGT	0.687		NA											4	52					0.000602214	0.000674923	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553868	140553868	+	Silent	SNP	C	C	T	rs149570059		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:140553868C>T	uc003lit.2	+	1	1626	c.1452C>T	c.(1450-1452)GCC>GCT	p.A484A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	484	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCATCT	0.642		NA											28	112					0	0	0	0
SPINK5	11005	broad.mit.edu	37	5	147513386	147513386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:147513386G>A	uc003lox.2	+	32	3195	c.3122G>A	c.(3121-3123)CGC>CAC	p.R1041H	SPINK5_uc003loy.2_Missense_Mutation_p.R1071H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	1041	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACATCCGCAGTACAGGG	0.468		NA											14	44					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150885203	150885203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:150885203G>A	uc003lue.3	-	23	12986	c.12973C>T	c.(12973-12975)CCC>TCC	p.P4325S	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P932S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4325	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCACCCGGGGCTGGCCCTGG	0.622		NA											16	18					0	0	0	0
HRH2	3274	broad.mit.edu	37	5	175110708	175110708	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:175110708T>A	uc003mdd.2	+	1	2245	c.472T>A	c.(472-474)TGG>AGG	p.W158R	HRH2_uc003mdc.3_Missense_Mutation_p.W158R	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	158	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCACCTGGGGTGGAACAGCAG	0.547		NA											15	43					0	0	0	0
BTNL9	153579	broad.mit.edu	37	5	180483002	180483002	+	Silent	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr5:180483002T>G	uc003mmt.2	+	9	1173	c.942T>G	c.(940-942)GCT>GCG	p.A314A		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	314	Cytoplasmic (Potential).|B30.2/SPRY.|Potential.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGGGCTGAAGGCCAGG	0.522		NA											4	172					0	0	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826725	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:25826725G>A	uc003nfh.3	-	3	287	c.171C>T	c.(169-171)CCC>CCT	p.P57P	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.P55P|SLC17A1_uc010jqc.1_Silent_p.P55P	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						TGGAGGTGTTGGGCAAACCAT	0.408		NA											56	176					0	0	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225492	26225492	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:26225492A>T	uc003nhb.2	+	2	470	c.110A>T	c.(109-111)AAG>ATG	p.K37M	HIST1H3E_uc003nhc.3_Missense_Mutation_p.K37M	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCGGCGTGAAGAAGCCCCAT	0.627		NA											87	56					0	0	0	0
OR5V1	81696	broad.mit.edu	37	6	29323045	29323045	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:29323045G>C	uc011dlo.1	-	1	1010	c.928C>G	c.(928-930)CCA>GCA	p.P310A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						GAAATTGGTGGCTGCCACTTG	0.368		NA											4	113					0	0	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778509	31778509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:31778509G>T	uc003nxh.2	-	2	1424	c.1241C>A	c.(1240-1242)GCC>GAC	p.A414D	HSPA1L_uc010jte.2_Missense_Mutation_p.A414D	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	414					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CTTTATCAGGGCAGTCATCAC	0.597		NA											21	226					2.38e-13	2.97e-13	1	0
TAP1	6890	broad.mit.edu	37	6	32819997	32819997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:32819997C>T	uc003ocg.2	-	3	1068	c.913G>A	c.(913-915)GGT>AGT	p.G305S	TAP1_uc011dqi.1_Missense_Mutation_p.G44S|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	305	Helical; Name=6; (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						ATCCCGTCACCCACGAACTCC	0.537		NA											9	123					0	0	0	0
ZNF318	24149	broad.mit.edu	37	6	43305026	43305026	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:43305026T>G	uc003oux.2	-	10	6788	c.6710A>C	c.(6709-6711)AAA>ACA	p.K2237T	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2237					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)			CACTGGAGCTTTAACCAAATT	0.493		NA											5	119					0	0	0	0
AARS2	57505	broad.mit.edu	37	6	44272035	44272035	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:44272035C>T	uc010jza.1	-	14	1893	c.1890G>A	c.(1888-1890)GCG>GCA	p.A630A	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	630					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCGTATGCTTCGCCATGCAGC	0.627		NA									OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	78					0	0	0	0
FAM162B	221303	broad.mit.edu	37	6	117086362	117086362	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:117086362G>A	uc003pxi.2	-	2	376	c.229C>T	c.(229-231)CTG>TTG	p.L77L		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	77						integral to membrane					0						GTCCACAGCAGGATTTTCTTG	0.632		NA											14	48					0	0	0	0
FNDC1	84624	broad.mit.edu	37	6	159687230	159687230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:159687230T>C	uc010kjv.2	+	21	5599	c.5399T>C	c.(5398-5400)CTT>CCT	p.L1800P		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTTGTTCTTTGTAATTCA	0.443		NA											26	72					0	0	0	0
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:161143527G>T	uc003qtm.3	+	10	1247	c.1184G>T	c.(1183-1185)GGA>GTA	p.G395V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493		NA											11	112					3.86e-05	4.48e-05	1	0
C7orf50	84310	broad.mit.edu	37	7	1037377	1037377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:1037377C>A	uc003sju.2	-	5	539	c.469G>T	c.(469-471)GAG>TAG	p.E157*	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Nonsense_Mutation_p.E157*|C7orf50_uc011jvu.1_Nonsense_Mutation_p.E157*	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	157							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCGTCAGCTCTCGGGCCCGG	0.687		NA											5	100					0.00116845	0.00129929	1	0
CHST12	55501	broad.mit.edu	37	7	2472365	2472365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:2472365G>A	uc003smc.2	+	2	226	c.91G>A	c.(91-93)GCC>ACC	p.A31T	CHST12_uc003smd.2_Missense_Mutation_p.A31T	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	31	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAGCGCAGGCGCCGCGCACTT	0.687		NA											68	63					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11630196	11630196	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:11630196G>A	uc003ssf.3	-	4	1596	c.1344C>T	c.(1342-1344)CGC>CGT	p.R448R		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGTTGCCGCGCCTCTTGT	0.557		NA								HNSCC(18;0.044)			10	48					0	0	0	0
DFNA5	1687	broad.mit.edu	37	7	24758712	24758712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:24758712T>A	uc010kus.1	-	4	618	c.530A>T	c.(529-531)GAG>GTG	p.E177V	DFNA5_uc003swz.2_Missense_Mutation_p.E13V|DFNA5_uc003sxa.1_Missense_Mutation_p.E177V|DFNA5_uc010kut.1_Missense_Mutation_p.E13V|DFNA5_uc003sxb.2_Missense_Mutation_p.E177V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	177					sensory perception of sound					ovary(1)	1						ACACTTCTCCTCGACCTGCAT	0.577		NA											29	135					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	37250998	37250998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:37250998C>T	uc003tfk.1	-	13	1386	c.1079G>A	c.(1078-1080)GGG>GAG	p.G360E	ELMO1_uc011kbc.1_Missense_Mutation_p.G264E|ELMO1_uc010kxg.1_Missense_Mutation_p.G360E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	360	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TACAATGAACCCAAGCTTCTT	0.507		NA											4	52					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592582	83592582	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:83592582T>A	uc003uhz.2	-	16	2114	c.1799A>T	c.(1798-1800)AAG>ATG	p.K600M		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	600	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCTCTGCGACTTCGGACTGCA	0.438		NA											34	85					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98548528	98548528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:98548528C>G	uc003upp.2	+	38	5552	c.5343C>G	c.(5341-5343)TTC>TTG	p.F1781L	TRRAP_uc011kis.1_Missense_Mutation_p.F1763L|TRRAP_uc003upr.2_Missense_Mutation_p.F1480L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1781					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTGCTTTCTTGTACAGCT	0.418		NA											7	207					0	0	0	0
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NA											6	28					0	0	0	0
EFHA2	286097	broad.mit.edu	37	8	16948072	16948072	+	Silent	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:16948072A>T	uc003wxd.2	+	8	909	c.867A>T	c.(865-867)GGA>GGT	p.G289G		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	289						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		AACTTTATGGATACCATTCTC	0.323		NA											6	241					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:61777711C>T	uc003xue.2	+	38	8690	c.8213C>T	c.(8212-8214)ACG>ATG	p.T2738M		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGCCTCCACGTCAGGGATC	0.612		NA											9	17					0	0	0	0
ASPH	444	broad.mit.edu	37	8	62556539	62556539	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:62556539T>G	uc003xuj.2	-	8	943	c.674A>C	c.(673-675)GAT>GCT	p.D225A	ASPH_uc011leg.1_Missense_Mutation_p.D196A|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Missense_Mutation_p.D211A|ASPH_uc011lei.1_Missense_Mutation_p.D211A|ASPH_uc011lej.1_Missense_Mutation_p.D168A|ASPH_uc003xun.2_Missense_Mutation_p.D182A|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Missense_Mutation_p.D225A	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	225	Glu-rich.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCCATATCCTGATTACA	0.328		NA											7	19					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100513997	100513997	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:100513997C>G	uc003yiv.2	+	26	4064	c.3953C>G	c.(3952-3954)ACC>AGC	p.T1318S	VPS13B_uc003yiw.2_Missense_Mutation_p.T1318S|VPS13B_uc003yiu.1_Missense_Mutation_p.T1318S|VPS13B_uc003yix.1_Missense_Mutation_p.T788S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1318					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGGAGGAACCAGTGGACGT	0.423		NA											10	125					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509169	110509169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:110509169A>T	uc003yne.2	+	64	10453	c.10349A>T	c.(10348-10350)AAG>ATG	p.K3450M		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3450	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTGGAAAAGTGGTTTGAC	0.373		NA								HNSCC(38;0.096)			22	106					0	0	0	0
FAM83A	84985	broad.mit.edu	37	8	124219421	124219421	+	Silent	SNP	G	G	C			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:124219421G>C	uc003ypv.2	+	5	2812	c.798G>C	c.(796-798)GTG>GTC	p.V266V	FAM83A_uc003ypw.2_Silent_p.V266V|FAM83A_uc003ypy.2_Silent_p.V210V|FAM83A_uc003ypx.2_Silent_p.V266V|FAM83A_uc003ypz.2_Silent_p.V266V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	266										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGACACGTGCACCGGAACA	0.363		NA											7	9					0	0	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091066	126091066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:126091066C>T	uc003yrt.2	-	6	954	c.625G>A	c.(625-627)GAG>AAG	p.E209K	KIAA0196_uc011lir.1_Missense_Mutation_p.E61K	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	209					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGCTCTCGGGATAGTTG	0.423		NA											17	53					0	0	0	0
SPATC1	375686	broad.mit.edu	37	8	145101649	145101649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr8:145101649C>A	uc011lkw.1	+	5	1670	c.1568C>A	c.(1567-1569)GCG>GAG	p.A523E	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	523										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCACCCTGCGCTGACCGAG	0.642		NA											18	49					3.53e-06	4.2e-06	1	0
FAM75A6	389730	broad.mit.edu	37	9	43627258	43627258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:43627258G>T	uc011lrb.1	-	4	1458	c.1429C>A	c.(1429-1431)CCC>ACC	p.P477T		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	477						integral to membrane					0						GAAATAAAGGGTTGGCGGTGG	0.522		NA											9	534					0.00448238	0.00492025	1	0
CORO2A	7464	broad.mit.edu	37	9	100895440	100895440	+	Silent	SNP	A	A	G	rs143485689		TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:100895440A>G	uc004ayl.2	-	5	794	c.528T>C	c.(526-528)ATT>ATC	p.I176I	CORO2A_uc004aym.2_Silent_p.I176I	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	176					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGCTAATCGTACTCA	0.542		NA											5	102					0	0	0	0
OR13D1	286365	broad.mit.edu	37	9	107457531	107457531	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:107457531T>A	uc011lvs.1	+	1	829	c.829T>A	c.(829-831)TCG>ACG	p.S277T		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	277	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTCAGCGCACTCGATTGTGGT	0.388		NA											6	97					0	0	0	0
LPAR1	1902	broad.mit.edu	37	9	113704008	113704008	+	Silent	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:113704008C>T	uc004bfa.2	-	4	741	c.486G>A	c.(484-486)CGG>CGA	p.R162R	LPAR1_uc011lwm.1_Silent_p.R163R|LPAR1_uc004bfb.2_Silent_p.R162R|LPAR1_uc004bfc.2_Silent_p.R162R|LPAR1_uc011lwn.1_Silent_p.R144R|LPAR1_uc011lwo.1_Silent_p.R163R|LPAR1_uc010mub.2_Silent_p.R162R	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	162	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						CCACTACCCGCCGGTTGCTCA	0.512		NA											22	74					0	0	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139015	101139015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:101139015C>T	uc004eim.2	-	2	4369	c.871G>A	c.(871-873)GTG>ATG	p.V291M	ZMAT1_uc011mrl.1_Missense_Mutation_p.V462M|ZMAT1_uc004ein.2_Missense_Mutation_p.V291M|ZMAT1_uc011mrm.1_Missense_Mutation_p.V291M	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	291						nucleus	zinc ion binding			ovary(1)	1						TGGTTTTCCACTACTTGTGAA	0.413		NA											31	34					0	0	0	0
ACSL4	2182	broad.mit.edu	37	X	108902623	108902623	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:108902623T>A	uc004eoi.2	-	16	2443	c.1938A>T	c.(1936-1938)GAA>GAT	p.E646D	ACSL4_uc004eoj.2_Missense_Mutation_p.E605D|ACSL4_uc004eok.2_Missense_Mutation_p.E605D	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	646	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	GTATTTCAGCTTCCATAGCAG	0.393		NA											31	26					0	0	0	0
SMARCA1	6594	broad.mit.edu	37	X	128640093	128640093	+	Silent	SNP	G	G	A			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrX:128640093G>A	uc004eun.3	-	8	1175	c.1062C>T	c.(1060-1062)CTC>CTT	p.L354L	SMARCA1_uc004eup.3_Silent_p.L354L|SMARCA1_uc011muk.1_Silent_p.L354L|SMARCA1_uc011mul.1_Silent_p.L354L	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	354	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						ATAAAAAGTTGAGTAAGGCCC	0.373		NA											35	33					0	0	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16936196	16936196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chrY:16936196G>T	uc004ftg.2	+	4	1006	c.754G>T	c.(754-756)GGC>TGC	p.G252C	NLGN4Y_uc004fte.2_Missense_Mutation_p.G84C|NLGN4Y_uc011nas.1_Missense_Mutation_p.G272C|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G252C	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	252	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						GACTATCTTTGGCTCGGGGGC	0.567		NA											5	56					3.6e-05	4.19e-05	1	0
DYRK1B	9149	broad.mit.edu	37	19	40321138	40321140	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr19:40321138_40321140delCTT	uc002omj.2	-	4	527_529	c.247_249delAAG	c.(247-249)AAGdel	p.K83del	DYRK1B_uc002omi.2_In_Frame_Del_p.K83del|DYRK1B_uc002omk.2_In_Frame_Del_p.K83del|DYRK1B_uc002oml.2_In_Frame_Del_p.K83del	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	83	Bipartite nuclear localization signal (Potential).				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTTCTTCTCCTTCTTGTTGCTC	0.581		NA											26	96	---	---	---	---	NA	NA	NA	NA
ITSN2	50618	broad.mit.edu	37	2	24498605	24498606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr2:24498605_24498606insT	uc002rfe.2	-	18	2315_2316	c.2057_2058insA	c.(2056-2058)AAGfs	p.K686fs	ITSN2_uc002rff.2_Frame_Shift_Ins_p.K659fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.K686fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	686	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTAGTTTCTTTTTCTGCAT	0.327		NA											12	67	---	---	---	---	NA	NA	NA	NA
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr22:29196498_29196499insGCC	uc011akl.1	-	1	62_63	c.14_15insGGC	c.(13-15)GCA>GCGGCA	p.5_5A>AA	XBP1_uc003aed.2_5'Flank|XBP1_uc003aef.2_5'UTR	NM_001079539	NP_001073007	P17861	XBP1_HUMAN	X-box binding protein 1 isoform XBP1(S)	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TCGGCGCGGCTGCCACCACCAC	0.762		NA											3	3	---	---	---	---	NA	NA	NA	NA
DBR1	51163	broad.mit.edu	37	3	137893473	137893474	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr3:137893473_137893474insGT	uc003erv.2	-	1	300_301	c.164_165insAC	c.(163-165)CCGfs	p.P55fs	DBR1_uc003eru.2_Frame_Shift_Ins_p.P4fs	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						GATACTTGGGCGGCACGGCCAT	0.693		NA											9	18	---	---	---	---	NA	NA	NA	NA
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr6:52883129delT	uc003pbh.2	-	8	1152	c.662delA	c.(661-663)AAGfs	p.K221fs	ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502		NA											8	476	---	---	---	---	NA	NA	NA	NA
ZNF782	158431	broad.mit.edu	37	9	99581247	99581247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:99581247delA	uc004awp.1	-	6	1339	c.1058delT	c.(1057-1059)TTCfs	p.F353fs	ZNF782_uc011lup.1_Frame_Shift_Del_p.F221fs	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				ATGTACACTGAAAGTTGACTG	0.408		NA											93	62	---	---	---	---	NA	NA	NA	NA
RALGPS1	9649	broad.mit.edu	37	9	129958852	129958852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6954-01A-11D-1912-08	TCGA-CV-6954-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	08f56645-763e-4864-a145-c0136dacd4f5	225e74d6-d99d-46a6-8a4d-2a13df472d3b	g.chr9:129958852delC	uc004bqo.1	+	13	1404	c.1137delC	c.(1135-1137)AGCfs	p.S379fs	RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	379					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						AGTCCCGCAGCCCCCGAAGGG	0.562		NA											19	101	---	---	---	---	NA	NA	NA	NA
