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
CLCNKA	1187	broad.mit.edu	37	1	16359745	16359745	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16359745G>C	uc001axu.2	+	19	2090	c.2010G>C	c.(2008-2010)TGG>TGC	p.W670C	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.W669C|CLCNKA_uc010obw.1_Missense_Mutation_p.W627C|CLCNKB_uc001axw.3_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	670	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCGTGTCCTGGGTGGAGGTAC	0.617		NA									OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	136					0	0	0	0
EPHA2	1969	broad.mit.edu	37	1	16464347	16464347	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16464347C>A	uc001aya.1	-	5	1449	c.1312_splice	c.e5+1	p.E438_splice	EPHA2_uc010oca.1_Splice_Site_p.E438_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGGACCTCACCTGTCTGGTT	0.607		NA											25	35					0.00106085	0.00110962	1	0
PADI4	23569	broad.mit.edu	37	1	17674531	17674531	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:17674531C>G	uc001baj.2	+	10	1171	c.1143C>G	c.(1141-1143)ATC>ATG	p.I381M	PADI4_uc009vpc.2_Missense_Mutation_p.I381M	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	381					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTTCCCATCAAACGCGTGA	0.587		NA											7	23					0	0	0	0
HMGN2	3151	broad.mit.edu	37	1	26801616	26801616	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:26801616G>A	uc001bmp.3	+	6	452	c.250G>A	c.(250-252)GAA>AAA	p.E84K	HMGN2_uc009vsk.2_Missense_Mutation_p.E69K|HMGN2_uc001bmq.3_Silent_p.L117L	NM_005517	NP_005508	P05204	HMGN2_HUMAN	high-mobility group nucleosomal binding domain	84					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding				0		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGAAAGCTGAAGGTGCTGG	0.368		NA											14	66					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34003072	34003072	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:34003072C>G	uc001bxn.1	-	60	9366	c.9337G>C	c.(9337-9339)GAT>CAT	p.D3113H	CSMD2_uc001bxm.1_Missense_Mutation_p.D3257H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3113	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATGTCCCATCTGACTGGCAA	0.607		NA											15	110					0	0	0	0
EPHA10	284656	broad.mit.edu	37	1	38227248	38227248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:38227248C>T	uc009vvi.2	-	3	765	c.679G>A	c.(679-681)GAG>AAG	p.E227K	EPHA10_uc001cbw.3_Missense_Mutation_p.E227K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	227	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGCGCTCTCGGCTGCGGTG	0.716		NA											9	10					0	0	0	0
TMEM59	9528	broad.mit.edu	37	1	54513022	54513022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:54513022C>G	uc001cwp.2	-	2	463	c.213G>C	c.(211-213)CAG>CAC	p.Q71H	TMEM59_uc001cwo.2_5'UTR|TMEM59_uc001cwq.2_Missense_Mutation_p.Q71H|TMEM59_uc001cwr.2_Intron|TMEM59_uc001cws.1_Missense_Mutation_p.Q82H	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	71	Extracellular (Potential).					Golgi membrane|integral to membrane					0						TGCAACCTCTCTGACATGCGT	0.388		NA											11	54					0	0	0	0
EFCAB7	84455	broad.mit.edu	37	1	64034060	64034060	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:64034060G>T	uc001dbf.2	+	12	1871	c.1577G>T	c.(1576-1578)GGA>GTA	p.G526V		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	526							calcium ion binding				0						GCATGTAGTGGACAACTTGAG	0.368		NA											11	31					6.43e-13	7.24e-13	1	0
DIRAS3	9077	broad.mit.edu	37	1	68512777	68512777	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68512777C>T	uc001ded.2	-	2	499	c.204G>A	c.(202-204)CCG>CCA	p.P68P	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	68	Effector region (Potential).				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						TTTCAATGGTCGGCAGGTACT	0.597		NA											25	73					0	0	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948554	68948554	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68948554C>G	uc001dem.3	-	8	1054	c.937G>C	c.(937-939)GAT>CAT	p.D313H	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	313	Rho-GAP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTGGATCTATCTGAAACTGTG	0.328		NA											13	66					0	0	0	0
AGL	178	broad.mit.edu	37	1	100387120	100387120	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:100387120C>A	uc001dsi.1	+	34	4912	c.4512C>A	c.(4510-4512)ACC>ACA	p.T1504T	AGL_uc001dsj.1_Silent_p.T1504T|AGL_uc001dsk.1_Silent_p.T1504T|AGL_uc001dsl.1_Silent_p.T1504T|AGL_uc001dsm.1_Silent_p.T1488T|AGL_uc001dsn.1_Silent_p.T1487T	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1504	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAGAACTGACCAATGAGAATG	0.353		NA											3	56					0.00909568	0.0093632	1	0
PHGDH	26227	broad.mit.edu	37	1	120283058	120283059	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283058_120283059GG>AA	uc001ehz.2	+	9	1222_1223	c.995_996GG>AA	c.(994-996)TGG>TAA	p.W332*	PHGDH_uc009whm.2_Nonsense_Mutation_p.W230*|PHGDH_uc001eia.2_Nonsense_Mutation_p.W331*|PHGDH_uc009whn.2_Nonsense_Mutation_p.W332*|PHGDH_uc001eib.2_Nonsense_Mutation_p.W298*|PHGDH_uc001eic.2_5'Flank	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ACCAAGCCTTGGATTGGTCTGG	0.609		NA											8	7					0	0	0	0
BCL9	607	broad.mit.edu	37	1	147091006	147091006	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:147091006G>A	uc001epq.2	+	8	1785	c.1045G>A	c.(1045-1047)GAT>AAT	p.D349N	BCL9_uc010ozr.1_Missense_Mutation_p.D275N	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	349	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGAGAATCCCGATGGCCTATC	0.577		NA	T	IGH@|IGL@	B-ALL								15	76					0	0	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs143849195	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153043109C>T	uc001fbg.2	-	2	270	c.207G>A	c.(205-207)CCG>CCA	p.P69P	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532		NA											22	114					0	0	0	0
S100A3	6274	broad.mit.edu	37	1	153520180	153520180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520180G>C	uc001fca.1	-	3	367	c.284C>G	c.(283-285)TCA>TGA	p.S95*	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	95							calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGGGCTCTGAGGGGCAGTC	0.627		NA											20	84					0	0	0	0
S100A3	6274	broad.mit.edu	37	1	153520231	153520231	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520231G>C	uc001fca.1	-	3	316	c.233C>G	c.(232-234)TCA>TGA	p.S78*	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	78	EF-hand 2.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGCAAGTGAGCGCACATA	0.562		NA											23	102					0	0	0	0
CD1E	913	broad.mit.edu	37	1	158325689	158325689	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:158325689C>T	uc001fse.2	+	4	937	c.698C>T	c.(697-699)TCA>TTA	p.S233L	CD1E_uc010pid.1_Missense_Mutation_p.S231L|CD1E_uc010pie.1_Missense_Mutation_p.S134L|CD1E_uc010pif.1_Missense_Mutation_p.S44L|CD1E_uc001fsd.2_Missense_Mutation_p.S233L|CD1E_uc001fsk.2_Missense_Mutation_p.S143L|CD1E_uc001fsj.2_Missense_Mutation_p.S143L|CD1E_uc001fsc.2_Missense_Mutation_p.S44L|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.S44L|CD1E_uc001fsf.2_Missense_Mutation_p.S233L|CD1E_uc001fry.2_Missense_Mutation_p.S233L|CD1E_uc001fsg.2_Missense_Mutation_p.S44L|CD1E_uc001fsh.2_Missense_Mutation_p.S44L|CD1E_uc001fsi.2_Missense_Mutation_p.S233L|CD1E_uc009wsv.2_Missense_Mutation_p.S134L|CD1E_uc001frz.2_Missense_Mutation_p.S143L|CD1E_uc009wsw.2_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	233	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TGCCATGTCTCAGGATTCTAC	0.587		NA											7	55					0	0	0	0
IGSF8	93185	broad.mit.edu	37	1	160063016	160063016	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160063016C>T	uc001fva.2	-	4	1055	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H	IGSF8_uc001fuz.2_Missense_Mutation_p.R337H|IGSF8_uc009wtf.2_Missense_Mutation_p.R337H	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	337	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCAGCATGACGGCCTGCTGG	0.667		NA											8	25					0	0	0	0
VANGL2	57216	broad.mit.edu	37	1	160389273	160389273	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160389273C>A	uc001fwb.1	+	5	973	c.674C>A	c.(673-675)GCC>GAC	p.A225D	VANGL2_uc001fwc.1_Missense_Mutation_p.A225D	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	225	Helical; Name=4; (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGACGCCCTTCTTTTC	0.652		NA											17	67					4.97e-08	5.43e-08	1	0
LY9	4063	broad.mit.edu	37	1	160793987	160793987	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160793987C>G	uc001fwu.2	+	9	1897	c.1847C>G	c.(1846-1848)TCT>TGT	p.S616C	LY9_uc001fwv.2_Missense_Mutation_p.S602C|LY9_uc001fww.2_Missense_Mutation_p.S526C|LY9_uc001fwx.2_Intron|LY9_uc001fwz.2_Intron	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	616	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCCAGTTTCTCAGAAGGAA	0.498		NA											33	100					0	0	0	0
LAMC1	3915	broad.mit.edu	37	1	183086470	183086470	+	Missense_Mutation	SNP	G	G	A	rs148393996	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:183086470G>A	uc001gpy.3	+	9	1837	c.1580G>A	c.(1579-1581)CGT>CAT	p.R527H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	527	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGGGTGGCGTGCGGAACAG	0.463		NA											3	27					0	0	0	0
CENPF	1063	broad.mit.edu	37	1	214818774	214818774	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:214818774C>T	uc001hkm.2	+	13	6035	c.5861C>T	c.(5860-5862)TCA>TTA	p.S1954L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2050	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAACTCTCAGTGGTCACA	0.393		NA											13	51					0	0	0	0
OR2L13	284521	broad.mit.edu	37	1	248263205	248263205	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:248263205C>A	uc001ids.2	+	3	865	c.528C>A	c.(526-528)TTC>TTA	p.F176L		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTGACCATTTCTTCTGCGATG	0.463		NA											26	135					4.78e-09	5.3e-09	1	0
ITGB1	3688	broad.mit.edu	37	10	33211192	33211193	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211192_33211193GC>AA	uc001iws.3	-	9	1256_1257	c.1120_1121GC>TT	c.(1120-1122)GCA>TTA	p.A374L	ITGB1_uc001iwp.3_Missense_Mutation_p.A374L|ITGB1_uc001iwq.3_Missense_Mutation_p.A374L|ITGB1_uc001iwr.3_Missense_Mutation_p.A374L|ITGB1_uc001iwt.3_Missense_Mutation_p.A374L|ITGB1_uc001iwu.1_Missense_Mutation_p.A374L	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	374	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACATTGTATGCATCAATGATC	0.327		NA											12	52					0	0	0	0
FAM13C	220965	broad.mit.edu	37	10	61112119	61112119	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112119C>T	uc001jkn.2	-	4	369	c.235G>A	c.(235-237)GTA>ATA	p.V79I	FAM13C_uc001jko.2_Missense_Mutation_p.V79I|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Missense_Mutation_p.V101I|FAM13C_uc001jkp.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	79										ovary(2)	2						GGTCGCAATACGCTGTCCACC	0.607		NA											5	28					0	0	0	0
FAM13C	220965	broad.mit.edu	37	10	61112150	61112150	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112150C>T	uc001jkn.2	-	4	338	c.204G>A	c.(202-204)CAG>CAA	p.Q68Q	FAM13C_uc001jko.2_Silent_p.Q68Q|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.Q90Q|FAM13C_uc001jkp.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	68										ovary(2)	2						CCTCTACATTCTGCTGCTGCG	0.562		NA											3	19					0	0	0	0
VCL	7414	broad.mit.edu	37	10	75856965	75856965	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75856965C>A	uc001jwd.2	+	13	1841	c.1747C>A	c.(1747-1749)CTA>ATA	p.L583I	VCL_uc009xrr.2_Missense_Mutation_p.L332I|VCL_uc010qky.1_Missense_Mutation_p.L490I|VCL_uc001jwe.2_Missense_Mutation_p.L583I|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	583	N-terminal globular head.|3.|3 X 112 AA tandem repeats.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TTTTAAGGATCTAAAAGCTCG	0.438		NA											16	94					1.52e-12	1.71e-12	1	0
VCL	7414	broad.mit.edu	37	10	75857067	75857067	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75857067C>T	uc001jwd.2	+	13	1943	c.1849C>T	c.(1849-1851)CCT>TCT	p.P617S	VCL_uc009xrr.2_Missense_Mutation_p.P366S|VCL_uc010qky.1_Missense_Mutation_p.P524S|VCL_uc001jwe.2_Missense_Mutation_p.P617S|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	617	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CACGGCGCCTCCTGATGCGCC	0.502		NA											16	75					0	0	0	0
IFIT3	3437	broad.mit.edu	37	10	91099031	91099031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:91099031C>T	uc001kgf.2	+	2	848	c.619C>T	c.(619-621)CAA>TAA	p.Q207*	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q207*	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	207	TPR 5.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						TCCTGATAACCAATACGTCAA	0.453		NA											11	33					0	0	0	0
BTRC	8945	broad.mit.edu	37	10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103190136C>G	uc001kta.2	+	2	196	c.83C>G	c.(82-84)TCC>TGC	p.S28C	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Missense_Mutation_p.S28C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537		NA											3	31					0	0	0	0
FGF8	2253	broad.mit.edu	37	10	103530279	103530279	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103530279G>A	uc001ktp.1	-	6	679	c.509C>T	c.(508-510)GCC>GTC	p.A170V	FGF8_uc001ktq.1_Missense_Mutation_p.A181V|FGF8_uc001ktr.1_Missense_Mutation_p.A152V|FGF8_uc001kts.1_Missense_Mutation_p.A141V|FGF8_uc009xwr.1_Missense_Mutation_p.A77V	NM_033164	NP_149354	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform E precursor	170					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCGGGTGAAGGCCATGTACCA	0.632		NA											9	36					0	0	0	0
SYT9	143425	broad.mit.edu	37	11	7324466	7324466	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:7324466C>T	uc001mfe.2	+	2	579	c.342C>T	c.(340-342)GAC>GAT	p.D114D	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	114	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGTGAGGACTTCCTAGATC	0.577		NA											15	49					0	0	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658775	20658775	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:20658775C>T	uc001mqd.2	+	12	2068	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	SLC6A5_uc009yic.2_Missense_Mutation_p.R364C	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	599					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	CAAGTACCTACGCACACACAA	0.483		NA											25	51					0	0	0	0
LGR4	55366	broad.mit.edu	37	11	27389780	27389780	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:27389780G>A	uc001mrj.3	-	18	2975	c.2490C>T	c.(2488-2490)ATC>ATT	p.I830I	LGR4_uc001mrk.3_Silent_p.I806I	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	830	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CTTGGCTACTGATGGAAACTG	0.448		NA											29	142					0	0	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200778	47200778	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:47200778C>T	uc001ndw.2	-	8	1170	c.832G>A	c.(832-834)GAA>AAA	p.E278K	ARFGAP2_uc001ndt.2_5'Flank|ARFGAP2_uc010rhb.1_5'Flank|ARFGAP2_uc001ndu.2_5'Flank|ARFGAP2_uc010rhc.1_5'Flank|ARFGAP2_uc010rhd.1_5'Flank|ARFGAP2_uc001ndv.1_5'Flank|PACSIN3_uc001ndx.2_Missense_Mutation_p.E278K|PACSIN3_uc001ndy.2_Missense_Mutation_p.E278K|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	278					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						AGATCCTCTTCGTCACTGGCT	0.612		NA											51	109					0	0	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319916	57319916	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:57319916G>A	uc001nkn.1	-	4	473	c.377C>T	c.(376-378)GCT>GTT	p.A126V	UBE2L6_uc001nko.1_Missense_Mutation_p.A60V	NM_004223	NP_004214	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	126					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CAGCAGGTCAGCGAGGTCCAT	0.572		NA											36	166					0	0	0	0
C11orf9	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:61541579C>T	uc001nsc.1	+	8	1352	c.1256C>T	c.(1255-1257)ACG>ATG	p.T419M	C11orf9_uc001nse.1_Missense_Mutation_p.T410M	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	419	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TACGTCAAGACGCCCGAGGGC	0.587		NA											5	18					0	0	0	0
BACE1	23621	broad.mit.edu	37	11	117161343	117161343	+	Silent	SNP	C	C	T	rs75519595	by1000genomes	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:117161343C>T	uc001pqz.2	-	8	1586	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	BACE1_uc001pqw.2_Silent_p.T350T|BACE1_uc001pqx.2_Silent_p.T306T|BACE1_uc001pqy.2_Silent_p.T331T|BACE1_uc010rxg.1_Silent_p.T250T|BACE1_uc010rxh.1_Silent_p.T275T|BACE1_uc009yzo.1_Missense_Mutation_p.R43H|uc010rxi.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	375	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGTCTTGGGACGTGGCCACAT	0.532		NA											8	17					0	0	0	0
DDX6	1656	broad.mit.edu	37	11	118630664	118630664	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:118630664G>A	uc001pub.2	-	8	1192	c.831C>T	c.(829-831)TCC>TCT	p.S277S	DDX6_uc001pua.2_5'Flank|DDX6_uc001puc.2_Silent_p.S277S	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	277	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGAAAGTAGCGGAATATAGTA	0.383		NA	T	IGH@	B-NHL								17	33					0	0	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128846491	128846491	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:128846491C>G	uc009zcp.2	-	19	2119	c.2119G>C	c.(2119-2121)GAG>CAG	p.E707Q	ARHGAP32_uc009zcq.1_Missense_Mutation_p.E667Q|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.E358Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	707					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						AGAGACTCCTCACTTTTAGCT	0.363		NA											17	77					0	0	0	0
ACAD8	27034	broad.mit.edu	37	11	134128424	134128424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:134128424G>A	uc001qhk.2	+	4	457	c.396G>A	c.(394-396)ATG>ATA	p.M132I	ACAD8_uc009zdc.2_Missense_Mutation_p.M34I|ACAD8_uc010sco.1_Missense_Mutation_p.M34I|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.M55I|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.M94I|ACAD8_uc009zde.1_Missense_Mutation_p.M5I	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	132					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GTGCCTGGATGATTGATAGCT	0.313		NA											10	18					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7526210	7526210	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:7526210C>T	uc001qsy.2	-	14	3462	c.3436G>A	c.(3436-3438)GAA>AAA	p.E1146K	CD163L1_uc010sge.1_Missense_Mutation_p.E1156K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1146	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GTTTCAGTTTCACTGTAGAGC	0.458		NA											26	179					0	0	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015468	21015468	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:21015468G>C	uc001rek.2	+	6	730	c.604G>C	c.(604-606)GAA>CAA	p.E202Q	SLCO1B3_uc001rel.2_Missense_Mutation_p.E202Q|SLCO1B3_uc010sil.1_Missense_Mutation_p.E202Q|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.E27Q	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	202	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTTTGCAAAAGAAGGACATTC	0.353		NA											8	42					0	0	0	0
CCDC91	55297	broad.mit.edu	37	12	28458663	28458663	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:28458663C>G	uc001riq.2	+	3	207	c.191C>G	c.(190-192)TCT>TGT	p.S64C	CCDC91_uc001rio.2_Missense_Mutation_p.S34C|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S64C|CCDC91_uc001rir.2_5'UTR|CCDC91_uc009zjl.2_5'Flank	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	64					protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGCCTCTCTTCTGATGCCATT	0.393		NA											34	136					0	0	0	0
TMTC1	83857	broad.mit.edu	37	12	29920863	29920863	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:29920863G>C	uc001rjb.2	-	2	598	c.124C>G	c.(124-126)CTT>GTT	p.L42V	TMTC1_uc001rjc.1_Missense_Mutation_p.L42V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	150						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGCAAAAAGCAATGCCGTT	0.308		NA											11	36					0	0	0	0
DGKA	1606	broad.mit.edu	37	12	56334131	56334131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56334131G>T	uc001sij.2	+	11	1096	c.832G>T	c.(832-834)GAG>TAG	p.E278*	DGKA_uc009zoc.1_Nonsense_Mutation_p.E278*|DGKA_uc001sih.1_Nonsense_Mutation_p.E166*|DGKA_uc001sii.1_Nonsense_Mutation_p.E136*|DGKA_uc009zod.1_Nonsense_Mutation_p.E197*|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Nonsense_Mutation_p.E278*|DGKA_uc001sil.2_Nonsense_Mutation_p.E278*|DGKA_uc001sim.2_Nonsense_Mutation_p.E278*|DGKA_uc001sin.2_Nonsense_Mutation_p.E278*|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Nonsense_Mutation_p.E20*	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	278	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AGGAGGCTGTGAGTCCGGGCG	0.597		NA									OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	89					1.56e-12	1.75e-12	1	0
ERBB3	2065	broad.mit.edu	37	12	56486845	56486845	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56486845G>C	uc001sjh.2	+	11	1452	c.1259G>C	c.(1258-1260)GGC>GCC	p.G420A	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.G361A|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	420	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCATTGGAGGCAGAAGCCTC	0.468		NA											7	24					0	0	0	0
FGD6	55785	broad.mit.edu	37	12	95501371	95501371	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:95501371G>C	uc001tdp.3	-	12	3525	c.3301C>G	c.(3301-3303)CGG>GGG	p.R1101G	FGD6_uc009zsx.2_Missense_Mutation_p.R234G|FGD6_uc001tdq.1_Missense_Mutation_p.R137G	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						ATCACTTTCCGAGACAGCTTC	0.418		NA											9	37					0	0	0	0
RIC8B	55188	broad.mit.edu	37	12	107236437	107236437	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:107236437G>C	uc001tlx.2	+	5	1032	c.907G>C	c.(907-909)GAA>CAA	p.E303Q	RIC8B_uc001tlw.2_Missense_Mutation_p.E303Q|RIC8B_uc001tly.2_Missense_Mutation_p.E263Q|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	303					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						GTTAACCCATGAAGAAACAGC	0.363		NA											8	39					0	0	0	0
NCOR2	9612	broad.mit.edu	37	12	124839420	124839420	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:124839420G>A	uc010tba.1	-	25	3588	c.3471C>T	c.(3469-3471)ACC>ACT	p.T1157T	NCOR2_uc010tay.1_Silent_p.T1156T|NCOR2_uc010taz.1_Silent_p.T1140T|NCOR2_uc010tbb.1_Silent_p.T1149T|NCOR2_uc010tbc.1_Silent_p.T1139T|NCOR2_uc001ugj.1_Silent_p.T1157T	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1157					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCCCCATGGTGACAGGGC	0.672		NA											11	48					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139056	126139056	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:126139056C>T	uc001uhe.1	+	9	3045	c.3037C>T	c.(3037-3039)CCT>TCT	p.P1013S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P525S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1013	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAAAAATGAACCTATGAATTC	0.463		NA											5	26					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185047	130185047	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:130185047G>A	uc009zyl.1	-	2	604	c.276C>T	c.(274-276)GTC>GTT	p.V92V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	92	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502		NA											7	27					0	0	0	0
RASL11A	387496	broad.mit.edu	37	13	27845676	27845676	+	Silent	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:27845676A>G	uc001urd.1	+	2	798	c.180A>G	c.(178-180)ACA>ACG	p.T60T		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	60	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AACCGAATACAGGTGAGAATA	0.418		NA									OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	110					0	0	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32977300	32977300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:32977300G>A	uc001uuc.2	-	5	607	c.511C>T	c.(511-513)CGA>TGA	p.R171*	N4BP2L1_uc001uud.2_Missense_Mutation_p.P168L|N4BP2L1_uc010tdy.1_Nonsense_Mutation_p.R171*	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1 isoform 1	171					cell killing		ATP binding			ovary(1)	1		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTTTCATTCGGTGGATTTTT	0.363		NA											18	65					0	0	0	0
CCNA1	8900	broad.mit.edu	37	13	37007189	37007189	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:37007189A>G	uc001uvr.3	+	2	478	c.128A>G	c.(127-129)GAA>GGA	p.E43G	CCNA1_uc010teo.1_5'UTR|CCNA1_uc010abq.2_5'UTR|CCNA1_uc010abp.2_5'UTR|CCNA1_uc001uvs.3_Missense_Mutation_p.E42G|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	43				EAMHC -> SS (in Ref. 2; AAV38384).	cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGTCTGAAGCAATGCAC	0.587		NA											21	87					0	0	0	0
LMO7	4008	broad.mit.edu	37	13	76287355	76287355	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:76287355G>T	uc010thv.1	+	3	1523	c.263G>T	c.(262-264)CGA>CTA	p.R88L	LMO7_uc001vjt.1_Missense_Mutation_p.R36L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 1	88	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATTTTCGAGCCTCTCTA	0.343		NA											4	31					2.56e-06	2.76e-06	1	0
MYO16	23026	broad.mit.edu	37	13	109496715	109496715	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:109496715C>T	uc001vqt.1	+	10	1182	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	MYO16_uc010agk.1_Silent_p.A374A|MYO16_uc001vqu.1_Silent_p.A152A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	352					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACCAATTGCCAAGCAAGACA	0.378		NA											6	42					0	0	0	0
DHRS2	10202	broad.mit.edu	37	14	24108117	24108117	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:24108117C>T	uc001wkt.3	+	2	491	c.44C>T	c.(43-45)CCC>CTC	p.P15L	DHRS2_uc010aku.1_Missense_Mutation_p.P15L|DHRS2_uc001wku.3_Missense_Mutation_p.P15L|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.P15L	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	Error:Variant_position_missing_in_Q13268_after_alignment					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		TGGTTTCATCCCTGTGCTAGG	0.582		NA											43	74					0	0	0	0
HECTD1	25831	broad.mit.edu	37	14	31588931	31588931	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:31588931C>G	uc001wrc.1	-	29	5869	c.5380G>C	c.(5380-5382)GAA>CAA	p.E1794Q	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.E1262Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1794					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTGGTATTTCTAGATCAGTT	0.378		NA											19	51					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64560106	64560106	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:64560106G>A	uc001xgm.2	+	61	12246	c.12016G>A	c.(12016-12018)GAA>AAA	p.E4006K	SYNE2_uc001xgl.2_Missense_Mutation_p.E4006K|SYNE2_uc010apy.2_Missense_Mutation_p.E391K|SYNE2_uc010apx.1_Missense_Mutation_p.E398K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4006	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGAAATAGAAAATTTGAA	0.343		NA											32	60					0	0	0	0
EIF2S1	1965	broad.mit.edu	37	14	67850070	67850070	+	Silent	SNP	G	G	A	rs55950335		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:67850070G>A	uc001xjg.2	+	8	1002	c.861G>A	c.(859-861)GCG>GCA	p.A287A		NM_004094	NP_004085	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2,	287						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGAACTTGCGAGGCAGATGG	0.398		NA											4	35					0	0	0	0
AHSA1	10598	broad.mit.edu	37	14	77930945	77930945	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:77930945C>A	uc001xtw.2	+	5	637	c.477C>A	c.(475-477)TTC>TTA	p.F159L	AHSA1_uc010tvk.1_Missense_Mutation_p.F159L	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	159					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCAGAGTTCACCCAGGGCA	0.458		NA											13	25					5.51e-06	5.88e-06	1	0
CLMN	79789	broad.mit.edu	37	14	95677035	95677035	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:95677035G>A	uc001yef.2	-	7	906	c.790C>T	c.(790-792)CTG>TTG	p.L264L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	264	Actin-binding.|CH 2.					integral to membrane	actin binding				0				Epithelial(152;0.193)		TCTGGCTCCAGGAGCCTGGGG	0.363		NA											7	85					0	0	0	0
EIF5	1983	broad.mit.edu	37	14	103802212	103802212	+	Silent	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:103802212C>G	uc001ymq.2	+	3	537	c.15C>G	c.(13-15)GTC>GTG	p.V5V	EIF5_uc001ymr.2_Silent_p.V5V|EIF5_uc001yms.2_Silent_p.V5V|EIF5_uc001ymt.2_Silent_p.V5V|EIF5_uc001ymu.2_Silent_p.V5V|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	5					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			CTGTCAATGTCAACCGCAGCG	0.403		NA											31	102					0	0	0	0
PACS2	23241	broad.mit.edu	37	14	105849196	105849196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:105849196C>T	uc001yqt.2	+	15	1734	c.1559C>T	c.(1558-1560)TCT>TTT	p.S520F	PACS2_uc001yqs.2_Missense_Mutation_p.S445F|PACS2_uc001yqv.2_Missense_Mutation_p.S524F|PACS2_uc001yqu.2_Missense_Mutation_p.S524F	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	520					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGCACGTGCTCTCCTGCGGAC	0.637		NA											5	17					0	0	0	0
MKRN3	7681	broad.mit.edu	37	15	23811463	23811463	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:23811463T>G	uc001ywh.3	+	1	1010	c.534T>G	c.(532-534)GGT>GGG	p.G178G	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.G178G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	178						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAAAGGGGTTTCTTTGAAG	0.612		NA											4	22					0	0	0	0
PGBD4	161779	broad.mit.edu	37	15	34395158	34395158	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:34395158G>A	uc001zho.2	+	1	885	c.426G>A	c.(424-426)TCG>TCA	p.S142S	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	142											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATTTTCGCGAATGGATA	0.413		NA											18	61					0	0	0	0
MAPK6	5597	broad.mit.edu	37	15	52356502	52356502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:52356502G>A	uc002abp.2	+	6	2265	c.1471G>A	c.(1471-1473)GGC>AGC	p.G491S		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	491					cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)		TGATAAGAAAGGCAAATCAAA	0.383		NA											5	21					0	0	0	0
ITGA11	22801	broad.mit.edu	37	15	68695271	68695271	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:68695271G>C	uc002ari.2	-	2	237	c.150C>G	c.(148-150)ATC>ATG	p.I50M	ITGA11_uc010bib.2_Missense_Mutation_p.I50M	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	50	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	TATTGCCACTGATGTCGTGCT	0.632		NA											4	11					0	0	0	0
PAQR5	54852	broad.mit.edu	37	15	69689821	69689821	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:69689821A>G	uc002arz.2	+	7	905	c.527A>G	c.(526-528)CAG>CGG	p.Q176R	PAQR5_uc002asa.2_Missense_Mutation_p.Q176R	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	176	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						CTTGAAATCCAGAAGCCCAGA	0.507		NA											8	62					0	0	0	0
ACAN	176	broad.mit.edu	37	15	89400924	89400924	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:89400924G>A	uc010upo.1	+	12	5482	c.5108G>A	c.(5107-5109)AGT>AAT	p.S1703N	ACAN_uc010upp.1_Missense_Mutation_p.S1703N|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1703					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGACATTAGTGGGAGAGCT	0.537		NA											5	172					0	0	0	0
CRTC3	64784	broad.mit.edu	37	15	91181798	91181798	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:91181798C>T	uc002bpp.2	+	12	1493	c.1387C>T	c.(1387-1389)CGC>TGC	p.R463C	CRTC3_uc002bpo.2_Missense_Mutation_p.R463C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	463					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCCCGCGCCCCTGA	0.672		NA	T	MAML2	salivary gland mucoepidermoid								15	56					0	0	0	0
IGF1R	3480	broad.mit.edu	37	15	99251204	99251204	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:99251204G>T	uc002bul.2	+	2	558	c.508G>T	c.(508-510)GTG>TTG	p.V170L	IGF1R_uc010urq.1_Missense_Mutation_p.V170L|IGF1R_uc010bon.2_Missense_Mutation_p.V170L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	170					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TAACTACATTGTGGGGAATAA	0.517		NA											9	95					7.48e-07	8.11e-07	1	0
UBN1	29855	broad.mit.edu	37	16	4909145	4909145	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:4909145G>C	uc002cyb.2	+	5	891	c.552G>C	c.(550-552)AAG>AAC	p.K184N	UBN1_uc010uxw.1_Missense_Mutation_p.K184N|UBN1_uc002cyc.2_Missense_Mutation_p.K184N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	184	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						AAGAAAAGAAGAAAAAATCTC	0.393		NA											18	43					0	0	0	0
OTOA	146183	broad.mit.edu	37	16	21698871	21698871	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:21698871C>T	uc002djh.2	+	7	538	c.537C>T	c.(535-537)ATC>ATT	p.I179I	uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.I100I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	179					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		GTGTGGAGATCCTGGGCAAGG	0.592		NA											9	43					0	0	0	0
PPP4C	5531	broad.mit.edu	37	16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:30093814G>A	uc002dwe.2	+	4	304	c.160G>A	c.(160-162)GAC>AAC	p.D54N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.D54N|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_5'UTR	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54		Iron (By similarity).			microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GGTGTGCGGCGACATCCATGG	0.522		NA											4	45					0	0	0	0
NOD2	64127	broad.mit.edu	37	16	50745595	50745595	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:50745595C>T	uc002egm.1	+	4	1878	c.1773C>T	c.(1771-1773)GTC>GTT	p.V591V	NOD2_uc010cbk.1_Silent_p.V564V|NOD2_uc002egl.1_Silent_p.V369V|NOD2_uc010cbl.1_Silent_p.V369V|NOD2_uc010cbm.1_Silent_p.V369V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	591	NACHT.				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)				CCAAAGGTGTCGTGCCAGGGA	0.577		NA											5	21					0	0	0	0
CETP	1071	broad.mit.edu	37	16	57015105	57015105	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:57015105G>C	uc002eki.2	+	12	1239	c.1182G>C	c.(1180-1182)AAG>AAC	p.K394N	CETP_uc002ekj.2_Missense_Mutation_p.K334N	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	394					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CCTATTCTAAGAAAAAGCTCT	0.537		NA											21	65					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66973244	66973244	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:66973244G>C	uc002eqr.2	+	3	1598	c.598G>C	c.(598-600)GAA>CAA	p.E200Q	CES2_uc002eqq.2_Missense_Mutation_p.E200Q|CES2_uc002eqs.2_Missense_Mutation_p.E43Q	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	136					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCATAGCCATGAAGGCTCTAA	0.542		NA											25	88					0	0	0	0
LRRC36	55282	broad.mit.edu	37	16	67418858	67418858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67418858G>A	uc002esv.2	+	14	2150	c.2131G>A	c.(2131-2133)GAG>AAG	p.E711K	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.E590K|LRRC36_uc010vjk.1_Missense_Mutation_p.E486K|LRRC36_uc010vjl.1_Missense_Mutation_p.E183K|LRRC36_uc002esy.2_Missense_Mutation_p.E221K	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	711											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCTGCCTCCTGAGAAGGGTCA	0.517		NA											13	44					0	0	0	0
CTCF	10664	broad.mit.edu	37	16	67650751	67650751	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67650751G>A	uc002etl.2	+	5	1346	c.1056G>A	c.(1054-1056)AAG>AAA	p.K352K	CTCF_uc010cek.2_Silent_p.K24K	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	352	C2H2-type 4.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCATTCAAGTGTTCCATGT	0.463		NA											16	181					0	0	0	0
CTCF	10664	broad.mit.edu	37	16	67655479	67655479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67655479C>T	uc002etl.2	+	7	1632	c.1342C>T	c.(1342-1344)CGA>TGA	p.R448*	CTCF_uc010cek.2_Nonsense_Mutation_p.R120*	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	448	C2H2-type 7.		R -> Q (in a Wilms' tumor).		chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTCATAGCCCGAAAAAGTGA	0.368		NA											5	25					0	0	0	0
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:68405851C>T	uc002ewa.2	-	3	656	c.234G>A	c.(232-234)GCG>GCA	p.A78A	SMPD3_uc010cfe.2_Silent_p.A78A|SMPD3_uc010vlh.1_Silent_p.A78A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	78	Helical; (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672		NA											4	14					0	0	0	0
TMED6	146456	broad.mit.edu	37	16	69381705	69381705	+	Missense_Mutation	SNP	G	G	C	rs117823350	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69381705G>C	uc002exc.1	-	3	508	c.475C>G	c.(475-477)CTG>GTG	p.L159V		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	159	Lumenal (Potential).				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						ATTGCATCCAGAGTATCATTC	0.413		NA											28	149					0	0	0	0
TMED6	146456	broad.mit.edu	37	16	69383442	69383442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69383442G>C	uc002exc.1	-	2	359	c.326C>G	c.(325-327)TCT>TGT	p.S109C		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	109	Lumenal (Potential).|GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						CTCTTGGGTAGAGAAGTTAAT	0.443		NA											33	137					0	0	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:77465453G>A	uc002ffc.3	-	3	653	c.234C>T	c.(232-234)CAC>CAT	p.H78H	ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAATGTCGTGTGAAATAT	0.488		NA											16	249					0	0	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874057	87874057	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:87874057C>T	uc002fkm.2	-	4	865	c.793G>A	c.(793-795)GAG>AAG	p.E265K		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	265					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		ATCATTTCCTCTGTGACGAAA	0.423		NA											10	66					0	0	0	0
RABEP1	9135	broad.mit.edu	37	17	5264712	5264712	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:5264712C>A	uc002gbm.3	+	9	1529	c.1305C>A	c.(1303-1305)GAC>GAA	p.D435E	RABEP1_uc010clc.1_Missense_Mutation_p.D428E|RABEP1_uc010cld.1_Missense_Mutation_p.D392E|RABEP1_uc010vsw.1_Missense_Mutation_p.D392E|RABEP1_uc002gbl.3_Missense_Mutation_p.D435E|NUP88_uc002gbn.2_RNA	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	435					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GAAACCTGGACGAGTCAGATT	0.468		NA											8	45					5.18e-06	5.56e-06	1	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578433G>C	uc002gim.2	-	5	691	c.497C>G	c.(496-498)TCA>TGA	p.S166*	TP53_uc002gig.1_Nonsense_Mutation_p.S166*|TP53_uc002gih.2_Nonsense_Mutation_p.S166*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S34*|TP53_uc010cng.1_Nonsense_Mutation_p.S34*|TP53_uc002gii.1_Nonsense_Mutation_p.S34*|TP53_uc010cnh.1_Nonsense_Mutation_p.S166*|TP53_uc010cni.1_Nonsense_Mutation_p.S166*|TP53_uc002gij.2_Nonsense_Mutation_p.S166*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S73*|TP53_uc002gio.2_Nonsense_Mutation_p.S34*|TP53_uc010vug.1_Nonsense_Mutation_p.S127*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	166	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> T (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(19)|p.0?(7)|p.S166P(5)|p.S166L(4)|p.Q167fs*14(4)|p.S166A(2)|p.S166fs*15(2)|p.S166S(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.K164_P219del(1)|p.S166T(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)|p.Q165_S166insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	54					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8159892	8159892	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:8159892G>A	uc002gkr.2	+	8	1013	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	PFAS_uc010vuv.1_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	291					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACCCCACACGGCCAAGCCGC	0.547		NA											7	27					0	0	0	0
NT5M	56953	broad.mit.edu	37	17	17248203	17248203	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:17248203C>T	uc002grf.2	+	4	710	c.525C>T	c.(523-525)GAC>GAT	p.D175D	NT5M_uc002gre.2_Silent_p.D175D|NT5M_uc002grg.2_Silent_p.D175D	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	175					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						TTCTCATAGACGACCGGCCGG	0.602		NA											12	34					0	0	0	0
ALDH3A2	224	broad.mit.edu	37	17	19555870	19555870	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:19555870G>C	uc002gwb.1	+	3	617	c.396G>C	c.(394-396)GTG>GTC	p.V132V	ALDH3A2_uc002gwa.1_Silent_p.V132V|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Silent_p.V132V	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	132	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAAATGCTGTGATTATAAAGC	0.353		NA											10	53					0	0	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143656	41143656	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:41143656C>T	uc002ici.1	+	5	1777	c.1765C>T	c.(1765-1767)CGC>TGC	p.R589C	RUNDC1_uc010whi.1_Missense_Mutation_p.R359C	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	589	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCTCAGTCGCCTCAGCAG	0.547		NA											9	23					0	0	0	0
IMP5	162540	broad.mit.edu	37	17	43923775	43923775	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:43923775G>T	uc010wka.1	+	1	1503	c.1503G>T	c.(1501-1503)TTG>TTT	p.L501F	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	501	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		AACCTGCCTTGCTCTACCTAG	0.612		NA											18	83					1.34e-09	1.49e-09	1	0
INTS2	57508	broad.mit.edu	37	17	59999129	59999129	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:59999129T>C	uc002izn.2	-	4	592	c.516A>G	c.(514-516)GTA>GTG	p.V172V	INTS2_uc002izm.2_Silent_p.V164V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	172					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						CCTCCAAATATACTGGACTCT	0.313		NA											6	28					0	0	0	0
PRKCA	5578	broad.mit.edu	37	17	64299053	64299053	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:64299053G>A	uc002jfp.1	+	1	128	c.84G>A	c.(82-84)CAG>CAA	p.Q28Q	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	28					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTGAGGCAGAAGAACGTGC	0.627		NA											24	34					0	0	0	0
UBE2O	63893	broad.mit.edu	37	17	74392877	74392877	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:74392877A>G	uc002jrm.3	-	14	2206	c.2141T>C	c.(2140-2142)ATT>ACT	p.I714T	UBE2O_uc002jrn.3_Missense_Mutation_p.I714T|UBE2O_uc002jrl.3_Missense_Mutation_p.I318T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	714							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						TGACTCCTCAATCTCAGACTC	0.557		NA											23	86					0	0	0	0
SLC25A10	1468	broad.mit.edu	37	17	79686897	79686897	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:79686897G>A	uc002kbi.2	+	10	828	c.742G>A	c.(742-744)GGG>AGG	p.G248R	SLC25A10_uc010wut.1_Missense_Mutation_p.G403R|SLC25A10_uc010dif.2_Missense_Mutation_p.G257R|SLC25A10_uc010wuu.1_Missense_Mutation_p.G202R	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	248	Solcar 3.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCGAAGCTCGGGCCTCTGGC	0.577		NA											57	201					0	0	0	0
ADCYAP1	116	broad.mit.edu	37	18	909477	909477	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:909477C>T	uc010dkg.2	+	5	491	c.372C>T	c.(370-372)GAC>GAT	p.D124D	ADCYAP1_uc010dkh.2_Silent_p.D124D	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	124					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						CGGGGGACGACGCGGAGCCGC	0.672		NA											19	53					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:5415859G>A	uc002kmt.1	-	13	2111	c.2025C>T	c.(2023-2025)AGC>AGT	p.S675S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTAGGGAGGCGCTCAAGGAGG	0.577		NA											10	37					0	0	0	0
DSG1	1828	broad.mit.edu	37	18	28923432	28923432	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:28923432C>T	uc002kwp.2	+	12	1919	c.1707C>T	c.(1705-1707)ATC>ATT	p.I569I	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	569	Helical; (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTGATGATCTGTTGTGATT	0.438		NA											29	129					0	0	0	0
FHOD3	80206	broad.mit.edu	37	18	34156443	34156443	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:34156443G>A	uc002kzt.1	+	6	638	c.541G>A	c.(541-543)GGA>AGA	p.G181R	FHOD3_uc002kzr.1_Missense_Mutation_p.G181R|FHOD3_uc002kzs.1_Missense_Mutation_p.G181R|FHOD3_uc002kzu.1_Missense_Mutation_p.G6R	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	181	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTATGTGGATGGAATGAATGG	0.368		NA											11	42					0	0	0	0
C19orf26	255057	broad.mit.edu	37	19	1235906	1235906	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:1235906G>A	uc002lrm.2	-	3	374	c.99C>T	c.(97-99)GAC>GAT	p.D33D		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	33						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATGGGGTCTGGCTCTG	0.682		NA								HNSCC(14;0.022)			24	72					0	0	0	0
TMEM146	257062	broad.mit.edu	37	19	5749165	5749165	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:5749165C>T	uc002mda.2	+	11	1019	c.958C>T	c.(958-960)CTG>TTG	p.L320L	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	320	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTATGGCAATCTGGGCATCGT	0.264		NA											13	34					0	0	0	0
LPHN1	22859	broad.mit.edu	37	19	14262302	14262302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:14262302G>A	uc010xnn.1	-	24	4104	c.3808C>T	c.(3808-3810)CGA>TGA	p.R1270*	LPHN1_uc010xno.1_Nonsense_Mutation_p.R1265*|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1270	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TTCCGGCCTCGGGGCGGCTCA	0.637		NA											12	47					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	39019003	39019003	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39019003C>T	uc002oit.2	+	74	11012	c.10882C>T	c.(10882-10884)CGC>TGC	p.R3628C	RYR1_uc002oiu.2_Missense_Mutation_p.R3623C|RYR1_uc002oiv.1_Missense_Mutation_p.R543C|RYR1_uc010xuf.1_Missense_Mutation_p.R548C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3628					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCAAACAGCGCCGGCGGGC	0.612		NA											14	28					0	0	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103292	39103292	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39103292C>A	uc002oix.1	-	9	732	c.624G>T	c.(622-624)CTG>CTT	p.L208L	MAP4K1_uc002oiy.1_Silent_p.L208L|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	208	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGCTCGGCCAGTTCGATGG	0.632		NA											14	47					6.72e-11	7.52e-11	1	0
ZC3H4	23211	broad.mit.edu	37	19	47589696	47589696	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:47589696G>C	uc002pga.3	-	6	853	c.815C>G	c.(814-816)TCT>TGT	p.S272C	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	272	Gly-rich.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCCATAGAGCCTCTGCC	0.687		NA											10	52					0	0	0	0
ATF5	22809	broad.mit.edu	37	19	50436276	50436276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:50436276G>A	uc010enq.1	+	4	1343	c.776G>A	c.(775-777)CGC>CAC	p.R259H	ATF5_uc002prd.2_Missense_Mutation_p.R259H	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	259					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCCGTGGAGCGCGAGATCCAG	0.667		NA											6	24					0	0	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703265	56703265	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:56703265C>T	uc010ygh.1	-	2	542	c.542G>A	c.(541-543)CGA>CAA	p.R181Q		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CTGCTGCTCTCGGCGGGCCTG	0.642		NA											5	19					0	0	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596360	58596360	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:58596360G>A	uc002qri.2	-	7	1534	c.1225C>T	c.(1225-1227)CGC>TGC	p.R409C	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R408C|ZSCAN18_uc010yhs.1_Missense_Mutation_p.R273C|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R409C|ZSCAN18_uc010yht.1_Missense_Mutation_p.R465C|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	409					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTTCCCGCGGGACAAGCCC	0.731		NA											4	4					0	0	0	0
HADHB	3032	broad.mit.edu	37	2	26502944	26502945	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502944_26502945GC>TA	uc002rgz.2	+	10	1145_1146	c.894_895GC>TA	c.(892-897)AAGCCC>AATACC	p.298_299KP>NT	HADHB_uc010ykv.1_Missense_Mutation_p.276_277KP>NT|HADHB_uc010ykw.1_Missense_Mutation_p.283_284KP>NT|HADHB_uc002rha.2_Missense_Mutation_p.175_176KP>NT|HADHB_uc010ykx.1_Missense_Mutation_p.224_225KP>NT	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	298_299					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCATCAAGCCCTACGGCAC	0.371		NA											18	82					0	0	0	0
SMEK2	57223	broad.mit.edu	37	2	55825607	55825607	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:55825607G>A	uc002rzc.2	-	4	1241	c.866C>T	c.(865-867)TCT>TTT	p.S289F	SMEK2_uc002rzb.2_Missense_Mutation_p.S289F|SMEK2_uc002rzd.2_Missense_Mutation_p.S289F|SMEK2_uc002rza.2_Missense_Mutation_p.S165F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	289						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGTAAGAGTAGAAAGAAAATT	0.343		NA											9	37					0	0	0	0
LOXL3	84695	broad.mit.edu	37	2	74763429	74763429	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:74763429C>T	uc002smp.1	-	6	1154	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.R361H|LOXL3_uc002smq.1_Missense_Mutation_p.R216H|LOXL3_uc010ffn.1_Missense_Mutation_p.R216H	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	361	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CTGCCCCATGCGAGCGCCACT	0.642		NA											33	130					0	0	0	0
TMEM131	23505	broad.mit.edu	37	2	98430838	98430838	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:98430838C>G	uc002syh.3	-	14	1535	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	436						integral to membrane				ovary(4)|central_nervous_system(2)	6						GCAGCATGATCAAATCCCAAA	0.323		NA											5	22					0	0	0	0
RPL31	6160	broad.mit.edu	37	2	101622470	101622470	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:101622470G>A	uc002taq.3	+	4	370	c.283G>A	c.(283-285)GAT>AAT	p.D95N	RPL31_uc002tar.3_Missense_Mutation_p.D95N|RPL31_uc010yvu.1_Missense_Mutation_p.D95N|RPL31_uc010yvv.1_Missense_Mutation_p.D95N|RPL31_uc010fiu.1_Missense_Mutation_p.D95N|RPL31_uc002tas.1_Missense_Mutation_p.D95N|RPL31_uc002tat.1_3'UTR	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						ACGTAATGAGGATGAAGATTC	0.378		NA											8	30					0	0	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460350	107460350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:107460350G>C	uc002tdq.2	-	2	203	c.84C>G	c.(82-84)ATC>ATG	p.I28M	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I28M|ST6GAL2_uc002tds.3_Missense_Mutation_p.I28M	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	28	Helical; Signal-anchor for type II membrane protein; (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CGGTGAAGTAGATGAAAATCA	0.562		NA											7	24					0	0	0	0
PCDP1	200373	broad.mit.edu	37	2	120373262	120373262	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:120373262C>T	uc002tmb.2	+	15	1621	c.529C>T	c.(529-531)CGG>TGG	p.R177W	PCDP1_uc010yyq.1_Missense_Mutation_p.R307W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	463						cilium	calmodulin binding				0	Colorectal(110;0.196)					GGCACAAAAACGGTTTCAACA	0.388		NA											3	24					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141115599	141115599	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:141115599C>A	uc002tvj.1	-	74	12316	c.11344G>T	c.(11344-11346)GAT>TAT	p.D3782Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3782	Extracellular (Potential).|LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAGTCGATCACACTGGAGA	0.413		NA								TSP Lung(27;0.18)			21	56					3.6e-14	4.07e-14	1	0
ACVR1	90	broad.mit.edu	37	2	158595074	158595074	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:158595074C>G	uc002tzm.3	-	11	1612	c.1273G>C	c.(1273-1275)GAG>CAG	p.E425Q	ACVR1_uc002tzn.3_Missense_Mutation_p.E425Q|ACVR1_uc010fog.2_Missense_Mutation_p.E425Q	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	425	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGTAATCCTCCACTATACCT	0.453		NA											15	78					0	0	0	0
PLCL1	5334	broad.mit.edu	37	2	198949131	198949131	+	Missense_Mutation	SNP	G	G	A	rs140990771		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:198949131G>A	uc010fsp.2	+	2	1181	c.890G>A	c.(889-891)CGC>CAC	p.R297H	PLCL1_uc002uuv.3_Missense_Mutation_p.R218H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	297					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CTAACCACCCGCGTGACCGAA	0.373		NA											19	73					0	0	0	0
FAM126B	285172	broad.mit.edu	37	2	201846381	201846381	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846381G>A	uc002uws.3	-	12	1393	c.1205C>T	c.(1204-1206)TCA>TTA	p.S402L	FAM126B_uc002uwu.2_Missense_Mutation_p.S376L|FAM126B_uc002uwv.2_Missense_Mutation_p.S402L	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	402						intracellular				ovary(1)	1						GCGAACTACTGAATCTCGAGG	0.488		NA											5	33					0	0	0	0
FAM126B	285172	broad.mit.edu	37	2	201846438	201846438	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846438G>A	uc002uws.3	-	12	1336	c.1148C>T	c.(1147-1149)TCA>TTA	p.S383L	FAM126B_uc002uwu.2_Missense_Mutation_p.S357L|FAM126B_uc002uwv.2_Missense_Mutation_p.S383L	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	383						intracellular				ovary(1)	1						ATCCTTGGCTGAACGCCCAGT	0.493		NA											7	34					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202131210	202131210	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:202131210A>G	uc002uxr.1	+	3	210	c.1A>G	c.(1-3)ATG>GTG	p.M1V	CASP8_uc010ftc.1_Missense_Mutation_p.M1V|CASP8_uc002uxo.1_Missense_Mutation_p.M1V|CASP8_uc002uxp.1_Missense_Mutation_p.M1V|CASP8_uc002uxq.1_Missense_Mutation_p.M1V|CASP8_uc002uxs.1_Missense_Mutation_p.M1V|CASP8_uc002uxt.1_Missense_Mutation_p.M60V|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.M1V|CASP8_uc002uxw.1_Missense_Mutation_p.M1V|CASP8_uc002uxy.1_Missense_Mutation_p.M1V|CASP8_uc002uxx.1_Missense_Mutation_p.M1V|CASP8_uc010ftf.2_Missense_Mutation_p.M1V	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	1					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TTTTAAAAAGATGGACTTCAG	0.398		NA								HNSCC(4;0.00038)			8	28					0	0	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209194623	209194623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:209194623G>C	uc002vcz.2	+	22	3935	c.3777G>C	c.(3775-3777)GAG>GAC	p.E1259D	PIKFYVE_uc002vcy.1_Missense_Mutation_p.E1203D	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1259					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TATTTTTAGAGAGATACTGTT	0.318		NA											7	28					0	0	0	0
SLC23A3	151295	broad.mit.edu	37	2	220029051	220029051	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220029051G>C	uc010zks.1	-	9	1288	c.1177C>G	c.(1177-1179)CAG>GAG	p.Q393E	NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zkr.1_Missense_Mutation_p.Q401E|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q276E	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	393	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTTGCTGAGATCCAGCC	0.438		NA											2	7					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220344508	220344508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220344508C>T	uc010fwg.2	+	24	5089	c.5089C>T	c.(5089-5091)CGG>TGG	p.R1697W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1697	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCACAGATCCGGGCCTATAT	0.602		NA											5	30					0	0	0	0
FARSB	10056	broad.mit.edu	37	2	223494891	223494891	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:223494891T>G	uc002vne.1	-	9	824	c.789A>C	c.(787-789)GCA>GCC	p.A263A	FARSB_uc010zlq.1_Silent_p.A283A|FARSB_uc002vnf.1_Silent_p.A164A	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	263					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAACTATTTTTGCCTGCAAAG	0.299		NA											10	39					0	0	0	0
ARMC9	80210	broad.mit.edu	37	2	232081419	232081419	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:232081419G>C	uc002vrq.3	+	5	529	c.417G>C	c.(415-417)TTG>TTC	p.L139F	ARMC9_uc002vrp.3_Missense_Mutation_p.L139F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	139							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGCAGCCTTGAGCCAGACCA	0.458		NA											20	95					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	236957775	236957775	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:236957775G>A	uc002vvs.2	+	16	2559	c.1964G>A	c.(1963-1965)GGC>GAC	p.G655D	AGAP1_uc002vvt.2_Missense_Mutation_p.G602D	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	655	Arf-GAP.				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						CGGAATCTTGGCACCCACCTT	0.557		NA											3	59					0	0	0	0
FOXA2	3170	broad.mit.edu	37	20	22563766	22563766	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:22563766G>A	uc002wsn.2	-	3	286	c.96C>T	c.(94-96)AAC>AAT	p.N32N	FOXA2_uc002wsm.2_Silent_p.N38N	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	32	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					CCAGGCCGGCGTTCATGTTGC	0.667		NA											20	79					0	0	0	0
BPIL3	128859	broad.mit.edu	37	20	31620810	31620810	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:31620810G>A	uc010zuc.1	+	2	118	c.118G>A	c.(118-120)GAG>AAG	p.E40K	BPIL3_uc010zud.1_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	40						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CGCCATGGATGAGAGTCATAT	0.537		NA											10	50					0	0	0	0
PHF20	51230	broad.mit.edu	37	20	34430552	34430552	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:34430552C>G	uc002xek.1	+	3	252	c.141C>G	c.(139-141)TTC>TTG	p.F47L	PHF20_uc002xei.1_Missense_Mutation_p.F47L|PHF20_uc010gfo.1_Missense_Mutation_p.F47L|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TCATCCATTTCAAGCGTTGGA	0.423		NA											14	79					0	0	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356976	37356976	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:37356976C>T	uc002xjc.2	+	2	1535	c.1272C>T	c.(1270-1272)GGC>GGT	p.G424G		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	424	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTACAGCGGCGACGGGCGCC	0.632		NA											8	19					0	0	0	0
SERINC3	10955	broad.mit.edu	37	20	43129936	43129936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:43129936C>T	uc002xme.2	-	9	1195	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	SERINC3_uc002xmf.1_Missense_Mutation_p.R354H|SERINC3_uc010ggs.1_Missense_Mutation_p.R347H|SERINC3_uc010zwp.1_Missense_Mutation_p.R299H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	354	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTGGAAGTGCGGATGCTGGA	0.493		NA											12	66					0	0	0	0
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:50158922C>T	uc002xwd.2	-	1	337	c.117G>A	c.(115-117)TTG>TTA	p.L39L	NFATC2_uc002xwc.2_Silent_p.L39L|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	39					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)					CGTTCGGATTCAAATACTCAT	0.672		NA											6	27					0	0	0	0
ZNF831	128611	broad.mit.edu	37	20	57766301	57766301	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:57766301C>T	uc002yan.2	+	1	227	c.227C>T	c.(226-228)CCG>CTG	p.P76L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCCCGCGCCCCGCTAGTGACG	0.716		NA											3	13					0	0	0	0
SON	6651	broad.mit.edu	37	21	34925097	34925097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:34925097C>T	uc002yse.1	+	3	3609	c.3560C>T	c.(3559-3561)TCA>TTA	p.S1187L	SON_uc002ysb.1_Missense_Mutation_p.S1187L|SON_uc002ysc.2_Missense_Mutation_p.S1187L|SON_uc002ysd.2_Missense_Mutation_p.S178L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S178L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1187					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						ACTGAGCAGTCAGCATTAACA	0.537		NA											21	83					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47831965	47831965	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:47831965T>A	uc002zji.3	+	28	6085	c.5978T>A	c.(5977-5979)GTT>GAT	p.V1993D	PCNT_uc002zjj.2_Missense_Mutation_p.V1875D	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1993					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTGGAGCCGGTTGTCCCTGAC	0.627		NA											9	34					0	0	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:22127164C>T	uc002zvn.2	-	7	1204	c.964G>A	c.(964-966)GAG>AAG	p.E322K	MAPK1_uc002zvo.2_Missense_Mutation_p.E322K|MAPK1_uc010gtk.1_Missense_Mutation_p.E278K	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478		NA											10	46					0	0	0	0
AP1B1	162	broad.mit.edu	37	22	29738276	29738276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:29738276G>A	uc003afj.2	-	12	1718	c.1534C>T	c.(1534-1536)CAG>TAG	p.Q512*	AP1B1_uc003afi.2_Nonsense_Mutation_p.Q512*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q512*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q512*|AP1B1_uc011ako.1_Nonsense_Mutation_p.Q65*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	512					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GCACCCACCTGAGTGGCCAAA	0.592		NA											3	18					0	0	0	0
LARGE	9215	broad.mit.edu	37	22	33733713	33733713	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:33733713C>T	uc003and.3	-	11	1785	c.1206G>A	c.(1204-1206)CTG>CTA	p.L402L	LARGE_uc011amd.1_Silent_p.L201L|LARGE_uc003ane.3_Silent_p.L402L|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.L334L|LARGE_uc011amf.1_Silent_p.L402L|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	402	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CCAGGAAGGTCAGGTAGAGGT	0.527		NA											15	25					0	0	0	0
SREBF2	6721	broad.mit.edu	37	22	42269956	42269956	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:42269956G>A	uc003bbi.2	+	5	1191	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	341	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).|Basic motif.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						ATTGAGAAACGATATCGCTCC	0.478		NA											6	24					0	0	0	0
CYB5R3	1727	broad.mit.edu	37	22	43019858	43019858	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:43019858C>T	uc003bcz.2	-	8	754	c.670G>A	c.(670-672)GAA>AAA	p.E224K	CYB5R3_uc010gzc.1_Missense_Mutation_p.E98K|CYB5R3_uc003bcw.2_Missense_Mutation_p.E214K|CYB5R3_uc011aps.1_Missense_Mutation_p.E257K|CYB5R3_uc003bcy.2_Missense_Mutation_p.E201K|CYB5R3_uc003bcx.2_Missense_Mutation_p.E201K	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	224					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	TTCCTGAGTTCCTCCAGCTCA	0.612		NA											21	55					0	0	0	0
LMF2	91289	broad.mit.edu	37	22	50941937	50941937	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:50941937G>A	uc003blp.2	-	14	2038	c.2007C>T	c.(2005-2007)GTC>GTT	p.V669V	LMF2_uc010hba.2_Silent_p.V491V|LMF2_uc003blo.2_Silent_p.V644V	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	669						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCCCGCTGACTGGTGCCA	0.672		NA											9	24					0	0	0	0
LZTFL1	54585	broad.mit.edu	37	3	45879466	45879466	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:45879466C>A	uc003cox.1	-	2	219	c.81G>T	c.(79-81)TTG>TTT	p.L27F	LZTFL1_uc003coy.1_Missense_Mutation_p.L10F|LZTFL1_uc011bak.1_Intron	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	27											0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTGAGTCTCAAGCCTCTCT	0.403		NA											6	51					0.00198382	0.00206553	1	0
PTH1R	5745	broad.mit.edu	37	3	46937282	46937282	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:46937282G>A	uc003cqm.2	+	5	439	c.236G>A	c.(235-237)AGG>AAG	p.R79K	PTH1R_uc003cqn.2_Missense_Mutation_p.R79K	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	79	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GGGAAGCCCAGGAAAGATAAG	0.547		NA							Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	23					0	0	0	0
SCAP	22937	broad.mit.edu	37	3	47469138	47469138	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:47469138C>G	uc003crh.1	-	5	685	c.430G>C	c.(430-432)GAG>CAG	p.E144Q	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	144	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACAACTCCTCCAAGCTCCTG	0.587		NA											8	25					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48680426	48680426	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:48680426C>T	uc003cul.2	-	29	8661	c.8380G>A	c.(8380-8382)GAG>AAG	p.E2794K	CELSR3_uc003cuf.1_Missense_Mutation_p.E2892K|CELSR3_uc010hkf.2_Missense_Mutation_p.E84K|CELSR3_uc010hkg.2_Missense_Mutation_p.E777K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2794	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGCCTCCTCAGGCGCTGCC	0.627		NA											19	64					0	0	0	0
GNAT1	2779	broad.mit.edu	37	3	50230738	50230738	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:50230738G>C	uc003cym.2	+	3	306	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	GNAT1_uc003cyl.2_Missense_Mutation_p.E64Q	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	64					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGAGTGCCTCGAGTTTATCGC	0.587		NA									OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53769529	53769529	+	Missense_Mutation	SNP	C	C	T	rs145327253		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53769529C>T	uc003dgv.3	+	20	2913	c.2750C>T	c.(2749-2751)ACG>ATG	p.T917M	CACNA1D_uc003dgu.3_Missense_Mutation_p.T937M|CACNA1D_uc003dgy.3_Missense_Mutation_p.T917M|CACNA1D_uc003dgw.3_Missense_Mutation_p.T584M|CACNA1D_uc003dgx.1_Missense_Mutation_p.T65M	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	917	Extracellular (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622		NA											4	26					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53839052	53839052	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53839052C>G	uc003dgv.3	+	45	5791	c.5628C>G	c.(5626-5628)ATC>ATG	p.I1876M	CACNA1D_uc003dgu.3_Missense_Mutation_p.I1896M|CACNA1D_uc003dgy.3_Missense_Mutation_p.I1852M|CACNA1D_uc003dgw.3_Missense_Mutation_p.I1543M|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1876	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGAAACATCGACTCTGAGA	0.537		NA											15	36					0	0	0	0
MITF	4286	broad.mit.edu	37	3	70014097	70014097	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:70014097G>A	uc003dnz.2	+	10	1377	c.1261G>A	c.(1261-1263)GTT>ATT	p.V421I	MITF_uc011bgb.1_Missense_Mutation_p.V369I|MITF_uc003doa.2_Missense_Mutation_p.V420I|MITF_uc003dob.2_Missense_Mutation_p.V405I|MITF_uc003dod.2_Missense_Mutation_p.V396I|MITF_uc003doe.2_Missense_Mutation_p.V314I|MITF_uc003dof.2_Missense_Mutation_p.V320I	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	427	DNA binding regulation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCAAGAACCCGTTCTTGAGAA	0.493		NA	A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						13	43					0	0	0	0
EPHA3	2042	broad.mit.edu	37	3	89390977	89390977	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:89390977C>T	uc003dqy.2	+	5	1268	c.1043C>T	c.(1042-1044)CCC>CTC	p.P348L	EPHA3_uc003dqx.1_Missense_Mutation_p.P348L|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	348	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGAGTTGGCCCCTGGACACA	0.433		NA								TSP Lung(6;0.00050)			14	36					0	0	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732320	111732320	+	Silent	SNP	A	A	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:111732320A>C	uc003dym.2	+	5	900	c.522A>C	c.(520-522)ATA>ATC	p.I174I	TAGLN3_uc003dyl.2_Silent_p.I174I|TAGLN3_uc003dyn.2_Silent_p.I174I|TAGLN3_uc003dyo.2_Silent_p.I174I	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	174	Calponin-like.				central nervous system development|muscle organ development						0						AGAACGTAATAGGCCTGCAGA	0.577		NA											22	68					0	0	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786954	125786954	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:125786954C>T	uc003eij.2	-	2	335	c.109G>A	c.(109-111)GAT>AAT	p.D37N	SLC41A3_uc003eil.2_Missense_Mutation_p.D37N|SLC41A3_uc003eik.2_Missense_Mutation_p.D37N|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.D37N	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	37						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		AGAGCTCCATCTTCTGAGGCT	0.642		NA											26	98					0	0	0	0
EIF2A	83939	broad.mit.edu	37	3	150290245	150290245	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:150290245G>C	uc003eya.2	+	10	1328	c.1312G>C	c.(1312-1314)GAG>CAG	p.E438Q	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.E311Q|EIF2A_uc003eyc.2_Missense_Mutation_p.E311Q|EIF2A_uc011bnv.1_Missense_Mutation_p.E413Q|EIF2A_uc011bnw.1_Missense_Mutation_p.E377Q|EIF2A_uc003eyd.2_Missense_Mutation_p.E213Q|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	438					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTACCCAATGAGGAACCTAA	0.358		NA											17	62					0	0	0	0
YEATS2	55689	broad.mit.edu	37	3	183433041	183433041	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:183433041G>A	uc003fly.2	+	2	286	c.91G>A	c.(91-93)GAG>AAG	p.E31K		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	31					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAGCAATTGAGAATTCAGG	0.398		NA											13	40					0	0	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831567	2831567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:2831567C>T	uc003gfi.3	+	8	1054	c.934C>T	c.(934-936)CAC>TAC	p.H312Y	SH3BP2_uc011bvp.1_Missense_Mutation_p.H340Y|SH3BP2_uc003gfj.3_Missense_Mutation_p.H369Y|SH3BP2_uc003gfk.3_Missense_Mutation_p.H312Y|SH3BP2_uc003gfl.3_Missense_Mutation_p.H245Y|SH3BP2_uc003gfm.3_Missense_Mutation_p.H287Y	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	312					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GACCCCTGGCCACGGGGCCTG	0.672		NA							Cherubism				15	72					0	0	0	0
FNIP2	57600	broad.mit.edu	37	4	159789364	159789364	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:159789364C>T	uc003iqe.3	+	13	1759	c.1576C>T	c.(1576-1578)CGT>TGT	p.R526C		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	526					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTACTTTCTCCGTTGCTCTGA	0.498		NA											19	76					0	0	0	0
TARS	6897	broad.mit.edu	37	5	33453512	33453512	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:33453512C>G	uc003jhy.2	+	4	743	c.448C>G	c.(448-450)CAG>GAG	p.Q150E	TARS_uc011cob.1_Missense_Mutation_p.Q138E|TARS_uc010iup.1_Missense_Mutation_p.Q91E|TARS_uc011coc.1_Missense_Mutation_p.Q171E|TARS_uc003jhz.2_Missense_Mutation_p.Q46E|TARS_uc011cod.1_Intron	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	150					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	TGAGGAAGCTCAGGCAGTAAG	0.438		NA											28	84					0	0	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097165	110097165	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:110097165T>C	uc003koz.2	+	8	1007	c.940T>C	c.(940-942)TTT>CTT	p.F314L	SLC25A46_uc011cvi.1_Missense_Mutation_p.F223L	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	314	Solcar 2.|Helical; Name=5; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGATGCTTATTTTCCAGAACT	0.408		NA											41	180					0	0	0	0
BRD8	10902	broad.mit.edu	37	5	137500615	137500615	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:137500615C>T	uc003lcf.1	-	12	1574	c.1519G>A	c.(1519-1521)GAG>AAG	p.E507K	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.E286K|BRD8_uc003lcg.2_Missense_Mutation_p.E580K|BRD8_uc003lci.2_Missense_Mutation_p.E510K|BRD8_uc003lch.2_Missense_Mutation_p.E401K|BRD8_uc011cym.1_Missense_Mutation_p.E491K|BRD8_uc010jer.1_Missense_Mutation_p.E476K|BRD8_uc011cyn.1_Missense_Mutation_p.E466K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	507					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTTGATCTCTGCACTGGGC	0.512		NA											18	85					0	0	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:140188125C>T	uc003lhi.2	+	1	1454	c.1353C>T	c.(1351-1353)AAC>AAT	p.N451N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N451N|PCDHA4_uc011daa.1_Silent_p.N451N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	451	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647		NA											23	74					0	0	0	0
ATP10B	23120	broad.mit.edu	37	5	160059205	160059205	+	Silent	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:160059205G>T	uc003lym.1	-	13	2398	c.1551C>A	c.(1549-1551)GGC>GGA	p.G517G	ATP10B_uc003lyn.2_Silent_p.G75G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	517	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTAGTGGCCCTGGATGG	0.567		NA											7	43					2.77e-08	3.04e-08	1	0
GPRIN1	114787	broad.mit.edu	37	5	176025708	176025708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:176025708C>G	uc003meo.1	-	2	1303	c.1128G>C	c.(1126-1128)AAG>AAC	p.K376N		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	376						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGTCCATCTTTCCCAGGA	0.542		NA											9	48					0	0	0	0
GCM2	9247	broad.mit.edu	37	6	10876748	10876748	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:10876748G>C	uc003mzn.3	-	3	458	c.386C>G	c.(385-387)CCT>CGT	p.P129R	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	129	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCTCGACAAGGAATCAACTC	0.493		NA											16	18					0	0	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858539	27858539	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:27858539G>T	uc003nka.2	-	1	32	c.32C>A	c.(31-33)TCT>TAT	p.S11Y	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_003526	P68431	H31_HUMAN	histone cluster 1, H3j	11					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GCCGCCGGTAGACTTGCGAGC	0.582		NA											5	34					8.13e-05	8.62e-05	1	0
NOTCH4	4855	broad.mit.edu	37	6	32166457	32166457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:32166457G>C	uc003obb.2	-	25	4725	c.4586C>G	c.(4585-4587)TCA>TGA	p.S1529*	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Nonsense_Mutation_p.S192*|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1529	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CTCAGGGCCTGAGCACATCAC	0.542		NA											6	27					0	0	0	0
PHF1	5252	broad.mit.edu	37	6	33382536	33382536	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33382536T>A	uc003oeh.2	+	11	1215	c.979T>A	c.(979-981)TGT>AGT	p.C327S	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.C327S|PHF1_uc010jux.2_Missense_Mutation_p.C127S	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	327					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				GAAGAGGAAATGTTTGTTTGG	0.512		NA									OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	115					0	0	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33403058	33403058	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33403058C>G	uc011dri.1	+	6	834	c.639C>G	c.(637-639)ATC>ATG	p.I213M	SYNGAP1_uc003oeo.1_Missense_Mutation_p.I198M|SYNGAP1_uc010juy.2_Missense_Mutation_p.I198M|SYNGAP1_uc010juz.2_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	213	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						ACAGCTCCATCCTGGGCCAGG	0.552		NA											24	43					0	0	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975737	42975737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:42975737G>A	uc003oth.2	+	7	877	c.791G>A	c.(790-792)CGC>CAC	p.R264H	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R232H|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R158H|PPP2R5D_uc011dva.1_Missense_Mutation_p.R113H|PPP2R5D_uc003oti.2_Missense_Mutation_p.R113H|PPP2R5D_uc003otj.2_Missense_Mutation_p.R113H	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTTTGCATCGCATCTATGGC	0.542		NA											21	97					0	0	0	0
PTK7	5754	broad.mit.edu	37	6	43109979	43109979	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43109979C>T	uc003oub.1	+	13	2187	c.1989C>T	c.(1987-1989)ACC>ACT	p.T663T	PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.T623T|PTK7_uc003oue.1_Silent_p.T533T|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.T671T|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	663	Ig-like C2-type 7.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCGCTACACCTGCATTGCAG	0.607		NA											24	26					0	0	0	0
CUL9	23113	broad.mit.edu	37	6	43173028	43173028	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43173028G>A	uc003ouk.2	+	24	4735	c.4660G>A	c.(4660-4662)GAC>AAC	p.D1554N	CUL9_uc003oul.2_Missense_Mutation_p.D1554N|CUL9_uc010jyk.2_Missense_Mutation_p.D706N	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1554					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CAGGTACATTGACCAACAGAT	0.567		NA											43	215					0	0	0	0
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:119245037G>C	uc003pyh.2	-	3	823	c.560C>G	c.(559-561)TCA>TGA	p.S187*		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418		NA											14	57					0	0	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676415	124676415	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:124676415T>C	uc003pzo.2	+	3	472	c.195T>C	c.(193-195)TAT>TAC	p.Y65Y	NKAIN2_uc003pzn.1_Silent_p.Y65Y|NKAIN2_uc003pzp.2_Silent_p.Y64Y|NKAIN2_uc010keq.2_Silent_p.Y65Y|NKAIN2_uc010ker.2_5'UTR	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	65	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		CTCTACAGTATGCTGTCTGGC	0.373		NA											30	140					0	0	0	0
SHPRH	257218	broad.mit.edu	37	6	146247400	146247400	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:146247400C>T	uc003qlf.2	-	16	3633	c.3234G>A	c.(3232-3234)TTG>TTA	p.L1078L	SHPRH_uc003qld.2_Silent_p.L1087L|SHPRH_uc003qle.2_Silent_p.L1087L|SHPRH_uc003qlg.1_Silent_p.L634L|SHPRH_uc003qlh.2_Silent_p.L3L|SHPRH_uc003qli.1_Silent_p.L3L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1078					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGCTATCAACAATTCCATCA	0.383		NA											15	73					0	0	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727688	154727688	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:154727688C>T	uc003qpy.2	-	13	1973	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	490	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGATGCCGCTCGGTCGTGGGT	0.582		NA											15	77					0	0	0	0
SNX8	29886	broad.mit.edu	37	7	2296548	2296548	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:2296548G>A	uc003slw.2	-	10	1288	c.1245C>T	c.(1243-1245)CTC>CTT	p.L415L		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	415					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAAGGCGCGGAGGATGTGGG	0.627		NA											9	33					0	0	0	0
CREB5	9586	broad.mit.edu	37	7	28844023	28844023	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:28844023C>G	uc003szq.2	+	8	1300	c.910C>G	c.(910-912)CAA>GAA	p.Q304E	CREB5_uc003szo.2_Missense_Mutation_p.Q271E|CREB5_uc003szr.2_Missense_Mutation_p.Q297E|CREB5_uc003szs.2_Missense_Mutation_p.Q165E	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	304					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						tcctcaccctcaaccccatca	0.124		NA											11	25					0	0	0	0
CCDC129	223075	broad.mit.edu	37	7	31683179	31683179	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:31683179G>T	uc003tcj.1	+	11	3188	c.2195G>T	c.(2194-2196)GGA>GTA	p.G732V	CCDC129_uc011kad.1_Missense_Mutation_p.G742V|CCDC129_uc003tci.1_Missense_Mutation_p.G583V|CCDC129_uc011kae.1_Missense_Mutation_p.G758V|CCDC129_uc003tck.1_Missense_Mutation_p.G640V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	732											0						GGTCCCAGAGGAACATCTTTA	0.507		NA											14	62					4.93e-13	5.57e-13	1	0
MYO1G	64005	broad.mit.edu	37	7	45005749	45005749	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:45005749G>A	uc003tmh.2	-	16	2224	c.2080C>T	c.(2080-2082)CGC>TGC	p.R694C	MYO1G_uc003tmf.2_Missense_Mutation_p.R137C|MYO1G_uc003tmg.2_Missense_Mutation_p.R456C|MYO1G_uc010kym.2_Missense_Mutation_p.R579C|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	694						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CGGGGTGAGCGGATGAACAGC	0.647		NA											8	37					0	0	0	0
GTF2I	2969	broad.mit.edu	37	7	74114630	74114630	+	Nonsense_Mutation	SNP	C	C	T	rs1064765	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:74114630C>T	uc003uau.2	+	5	797	c.427C>T	c.(427-429)CGA>TGA	p.R143*	GTF2I_uc003uat.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uav.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uaw.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uay.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uax.2_Nonsense_Mutation_p.R143*|uc003uaz.2_RNA	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	143	GTF2I-like 1.				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						GAAGATGCTGCGAGACCAGTC	0.478		NA											11	72					0	0	0	0
PLOD3	8985	broad.mit.edu	37	7	100849690	100849690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:100849690C>T	uc003uyd.2	-	19	2545	c.2089G>A	c.(2089-2091)GAC>AAC	p.D697N	PLOD3_uc010lhs.2_Missense_Mutation_p.D262N	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	697	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCACACAGTCGTAGCGCAGG	0.652		NA											7	19					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149493600	149493600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:149493600C>T	uc010lpk.2	+	45	6676	c.6676C>T	c.(6676-6678)CCA>TCA	p.P2226S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2226					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTGCGAGCCAGGTACAGG	0.672		NA											15	68					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103305964	103305964	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:103305964G>C	uc003ykr.1	-	34	4491	c.4458C>G	c.(4456-4458)GTC>GTG	p.V1486V	UBR5_uc003yks.1_Silent_p.V1486V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1486					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCCATTCTGACAGGAACAA	0.463		NA											4	21					0	0	0	0
BAI1	575	broad.mit.edu	37	8	143562715	143562715	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143562715G>C	uc003ywm.2	+	9	2112	c.1929G>C	c.(1927-1929)CAG>CAC	p.Q643H		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	643	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAACATCCAGATGATGGTGA	0.607		NA											16	66					0	0	0	0
LY6D	8581	broad.mit.edu	37	8	143866646	143866646	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143866646G>A	uc003yxf.1	-	3	454	c.378C>T	c.(376-378)CCC>CCT	p.P126P		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	126					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCACAGGCTGGGGGCTAAGA	0.667		NA											5	21					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144940413	144940413	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:144940413G>A	uc003zaa.1	-	2	15032	c.15019C>T	c.(15019-15021)CGC>TGC	p.R5007C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5007	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGCAGGCGGATGCCGTGC	0.701		NA											9	397					0	0	0	0
NFKBIL2	4796	broad.mit.edu	37	8	145661383	145661383	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:145661383C>T	uc011llg.1	-	17	2448	c.2433G>A	c.(2431-2433)CCG>CCA	p.P811P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	811					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTGGCCCCGCGGTGGGCCAG	0.721		NA											6	13					0	0	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396723	38396723	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:38396723C>T	uc004aay.2	+	2	1090	c.978C>T	c.(976-978)TTC>TTT	p.F326F		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	326					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGGACCTTCGTGGAAGAAT	0.577		NA											8	33					0	0	0	0
TRPM6	140803	broad.mit.edu	37	9	77343238	77343238	+	Missense_Mutation	SNP	G	G	A	rs143161006		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:77343238G>A	uc004ajl.1	-	38	6090	c.5852C>T	c.(5851-5853)CCG>CTG	p.P1951L	TRPM6_uc004ajk.1_Missense_Mutation_p.P1946L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P902L|TRPM6_uc010mpd.1_Missense_Mutation_p.P784L|TRPM6_uc010mpe.1_Missense_Mutation_p.P498L|TRPM6_uc004ajj.1_Missense_Mutation_p.P907L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1951	ATP (By similarity).|Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CAAATTGGCCGGTCCAAACAC	0.428		NA											12	33					0	0	0	0
ABCA1	19	broad.mit.edu	37	9	107571747	107571747	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:107571747G>A	uc004bcl.2	-	30	4587	c.4274C>T	c.(4273-4275)CCA>CTA	p.P1425L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1425	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGCACTCACGGGATTGGGTT	0.512		NA											10	25					0	0	0	0
FNBP1	23048	broad.mit.edu	37	9	132687418	132687418	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:132687418C>T	uc004byw.1	-	9	1027	c.808G>A	c.(808-810)GAA>AAA	p.E270K	FNBP1_uc011mbv.1_Missense_Mutation_p.E270K|FNBP1_uc011mbw.1_Missense_Mutation_p.E270K|FNBP1_uc004bza.2_Missense_Mutation_p.E270K|FNBP1_uc004byz.1_Missense_Mutation_p.E270K|FNBP1_uc004byx.1_Missense_Mutation_p.E191K|FNBP1_uc004byy.1_Missense_Mutation_p.E191K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	270	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTATAAGCTTCTATTACCAGC	0.343		NA	T	MLL	AML								13	46					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402562	139402562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:139402562C>A	uc004chz.2	-	21	3355	c.3355G>T	c.(3355-3357)GGA>TGA	p.G1119*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.G349*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1119	Extracellular (Potential).|EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGCCCTCCATGCTGGCAC	0.672		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			10	25					2.18e-05	2.32e-05	1	0
FAM48B1	100130302	broad.mit.edu	37	X	24382304	24382304	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:24382304C>G	uc011mjx.1	+	1	1427	c.1427C>G	c.(1426-1428)TCA>TGA	p.S476*		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						AAGATTTCCTCAGGTAACAGT	0.413		NA											2	5					0	0	0	0
SMC1A	8243	broad.mit.edu	37	X	53439161	53439161	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53439161G>C	uc004dsg.2	-	6	966	c.897C>G	c.(895-897)ATC>ATG	p.I299M	SMC1A_uc011moe.1_Missense_Mutation_p.I277M|SMC1A_uc011mof.1_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	299	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CCTTGGCTTTGATGTACTGAG	0.502		NA											12	15					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53573400	53573400	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53573400T>C	uc004dsp.2	-	70	11314	c.10912A>G	c.(10912-10914)ATA>GTA	p.I3638V	HUWE1_uc004dsn.2_Missense_Mutation_p.I2446V|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3638					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTATTACCTATTTGTTTACAA	0.318		NA											3	6					0	0	0	0
PHF6	84295	broad.mit.edu	37	X	133549100	133549100	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:133549100G>A	uc004exj.2	+	8	986	c.784G>A	c.(784-786)GAC>AAC	p.D262N	PHF6_uc004exk.2_Missense_Mutation_p.D262N|PHF6_uc011mvk.1_Missense_Mutation_p.D228N|PHF6_uc004exh.2_Missense_Mutation_p.D263N|PHF6_uc010nrr.2_Missense_Mutation_p.D262N|PHF6_uc004exi.2_Missense_Mutation_p.D263N	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGGAGACTTTGATAT	0.338		NA											13	17					0	0	0	0
SOX3	6658	broad.mit.edu	37	X	139586794	139586794	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:139586794G>A	uc004fbd.1	-	1	432	c.432C>T	c.(430-432)AAC>AAT	p.N144N		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	144	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					CCATGAAGGCGTTCATGGGCC	0.667		NA											11	16					0	0	0	0
THEM4	117145	broad.mit.edu	37	1	151861698	151861699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:151861698_151861699insC	uc001ezj.1	-	3	616_617	c.437_438insG	c.(436-438)GGAfs	p.G146fs	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	146					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGTGGTCCTTCCAGGTA	0.416		NA											18	66	---	---	---	---	NA	NA	NA	NA
DKFZp761E198	91056	broad.mit.edu	37	11	65545479	65545480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:65545479_65545480insG	uc001ofo.3	-	1	2343_2344	c.2313_2314insC	c.(2311-2316)TACTGTfs	p.Y771fs		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	771_772							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		ATTGCTACACAGTAGCTGGTAG	0.658		NA											12	14	---	---	---	---	NA	NA	NA	NA
RAN	5901	broad.mit.edu	37	12	131359130	131359133	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:131359130_131359133delTTAC	uc001uir.2	+	5	352_355	c.287_290delTTAC	c.(286-291)GTTACTfs	p.V96fs	RAN_uc010tbk.1_Frame_Shift_Del_p.V8fs|RAN_uc010tbl.1_Frame_Shift_Del_p.V8fs|RAN_uc001uis.2_Frame_Shift_Del_p.V116fs	NM_006325	NP_006316	P62826	RAN_HUMAN	ras-related nuclear protein	96_97					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ACATCGAGAGTTACTTACAAGAAT	0.407		NA											11	56	---	---	---	---	NA	NA	NA	NA
C13orf33	84935	broad.mit.edu	37	13	31495735	31495736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:31495735_31495736insA	uc001uth.3	+	4	880_881	c.539_540insA	c.(538-540)CCAfs	p.P180fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	180											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		TTCTTCCCCCCAGGAAATGAAG	0.361		NA											14	85	---	---	---	---	NA	NA	NA	NA
PSMC5	5705	broad.mit.edu	37	17	61908892	61908892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:61908892delT	uc002jcb.2	+	10	1037	c.996delT	c.(994-996)CATfs	p.H332fs	PSMC5_uc010ddy.2_Frame_Shift_Del_p.H309fs|PSMC5_uc010ddz.2_Frame_Shift_Del_p.H253fs|PSMC5_uc002jcc.2_Frame_Shift_Del_p.H324fs|PSMC5_uc002jcd.2_Frame_Shift_Del_p.H324fs	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	332					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						TGAAGATTCATTCTCGGAAGA	0.547		NA											19	98	---	---	---	---	NA	NA	NA	NA
TRMT1	55621	broad.mit.edu	37	19	13220597	13220598	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:13220597_13220598delCA	uc002mwj.2	-	9	1411_1412	c.1161_1162delTG	c.(1159-1164)TGTGGGfs	p.C387fs	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Frame_Shift_Del_p.C358fs|TRMT1_uc002mwl.3_Frame_Shift_Del_p.C387fs|TRMT1_uc010xmz.1_Frame_Shift_Del_p.C173fs	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	387_388							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGTCGTTGCCCACAGTGTTCAC	0.624		NA											9	77	---	---	---	---	NA	NA	NA	NA
MLL4	9757	broad.mit.edu	37	19	36214893	36214894	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:36214893_36214894insC	uc010eei.2	+	9	3319_3320	c.3319_3320insC	c.(3319-3321)ACCfs	p.T1107fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1107					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGGCGTCGGACCCCCCGAGAA	0.564		NA											16	25	---	---	---	---	NA	NA	NA	NA
FOSL2	2355	broad.mit.edu	37	2	28634936	28634949	+	Frame_Shift_Del	DEL	CCCCAGCCCCTGGG	CCCCAGCCCCTGGG	-	rs112106981		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:28634936_28634949delCCCCAGCCCCTGGG	uc002rma.2	+	4	1411_1424	c.602_615delCCCCAGCCCCTGGG	c.(601-615)CCCCCAGCCCCTGGGfs	p.P201fs	FOSL2_uc010ymi.1_Frame_Shift_Del_p.P162fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	201_205					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CGCCGATCGCCCCCAGCCCCTGGGCTGCAGCCCA	0.654		NA											17	84	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187532709	187532710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:187532709_187532710insG	uc003izf.2	-	14	9871_9872	c.9683_9684insC	c.(9682-9684)CCTfs	p.P3228fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3228	Extracellular (Potential).|Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACTCAAACACAGGGGGGTTGTC	0.47		NA								HNSCC(5;0.00058)			15	28	---	---	---	---	NA	NA	NA	NA
ZBTB22	9278	broad.mit.edu	37	6	33283438	33283442	+	Frame_Shift_Del	DEL	AAGGG	AAGGG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33283438_33283442delAAGGG	uc003oeb.2	-	2	1404_1408	c.1252_1256delCCCTT	c.(1252-1257)CCCTTGfs	p.P418fs	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Frame_Shift_Del_p.P418fs	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418_419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGCATGTCCAAGGGAAGGAGCGGT	0.62		NA											76	191	---	---	---	---	NA	NA	NA	NA
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:123301995_123301997delGAG	uc003vky.2	+	2	512_514	c.355_357delGAG	c.(355-357)GAGdel	p.E124del		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.|Potential.					cytoskeleton	actin binding|tropomyosin binding				0						AGTGTATACAgaggaggaggagg	0.281		NA											2	4	---	---	---	---	NA	NA	NA	NA
DBH	1621	broad.mit.edu	37	9	136522324	136522326	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:136522324_136522326delCAA	uc004cel.2	+	11	1704_1706	c.1695_1697delCAA	c.(1693-1698)TGCAAC>TGC	p.N566del	uc010nao.1_In_Frame_Del_p.L19del	NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	566	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCATGCACTGCAACAAGTCCTCA	0.64		NA											9	50	---	---	---	---	NA	NA	NA	NA