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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
CAMTA1	23261	broad.mit.edu	37	1	7725216	7725216	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:7725216T>A	uc001aoi.2	+	9	2816	c.2609T>A	c.(2608-2610)GTG>GAG	p.V870E		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCGGACGGGTGTTCATGGTG	0.687			NA											18	24					0	0	0.00499	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:12887606C>G	uc001auk.2	-	3	447	c.251G>C	c.(250-252)TGC>TCC	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	84											0						ATTGAGGAAGCACCCATGGGC	0.483			NA											5	259					0	0	0.00308	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527428	26527428	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:26527428C>T	uc010oez.1	+	8	1095	c.1095C>T	c.(1093-1095)CCC>CCT	p.P365P	CATSPER4_uc010oey.1_Silent_p.P187P|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	365	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAGGCCCCCTGTCGAACC	0.552			NA											27	41					0	0	0.004656	0	0
C1orf172	126695	broad.mit.edu	37	1	27278144	27278144	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:27278144A>G	uc001bni.1	-	2	817	c.728T>C	c.(727-729)ATC>ACC	p.I243T		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	243										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCTTGAAGATGAGCACATC	0.537			NA											20	13					0	0	0.010504	0	0
CSMD2	114784	broad.mit.edu	37	1	34276420	34276420	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:34276420G>C	uc001bxn.1	-	10	1279	c.1250C>G	c.(1249-1251)ACC>AGC	p.T417S	CSMD2_uc001bxm.1_Missense_Mutation_p.T457S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	417	CUB 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGGGGGAGGTGATGATGCC	0.542			NA											40	58					0	0	0.011902	0	0
SFPQ	6421	broad.mit.edu	37	1	35652649	35652649	+	Missense_Mutation	SNP	C	C	A	rs144271953	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:35652649C>A	uc001bys.2	-	9	2032	c.1939G>T	c.(1939-1941)GGC>TGC	p.G647C	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	647					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGTGGAACGCCAGGATTAGCT	0.443			NA	T	TFE3	papillary renal cell								32	56					1.74807e-11	2.20615e-11	0.010818	1	0
PODN	127435	broad.mit.edu	37	1	53544461	53544461	+	Missense_Mutation	SNP	C	C	T	rs145236540		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:53544461C>T	uc001cuv.2	+	8	1430	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	PODN_uc001cuw.2_Missense_Mutation_p.R456C|PODN_uc010onr.1_Missense_Mutation_p.R456C|PODN_uc010ons.1_Missense_Mutation_p.R333C	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	427					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						CGACGCCTTCCGCAAGCTGCG	0.642			NA											31	23					0	0	0.009535	0	0
GLIS1	148979	broad.mit.edu	37	1	53995556	53995556	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:53995556C>G	uc001cvr.1	-	4	1432	c.865G>C	c.(865-867)GAG>CAG	p.E289Q		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	289					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						TACGGCTTCTCGCCCGTGTGG	0.637			NA											18	21					0	0	0.007413	0	0
LEPR	3953	broad.mit.edu	37	1	66038102	66038102	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:66038102A>T	uc001dci.2	+	5	666	c.464A>T	c.(463-465)TAT>TTT	p.Y155F	LEPR_uc001dcg.2_Missense_Mutation_p.Y155F|LEPR_uc001dch.2_Missense_Mutation_p.Y155F|LEPR_uc009waq.2_Missense_Mutation_p.Y155F|LEPR_uc001dcj.2_Missense_Mutation_p.Y155F|LEPR_uc001dck.2_Missense_Mutation_p.Y155F	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	155	Extracellular (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCAGGAATTATAACTATAAG	0.294			NA											13	17					0	0	0.016723	0	0
PDE4B	5142	broad.mit.edu	37	1	66713219	66713219	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:66713219C>A	uc001dcn.2	+	4	549	c.358C>A	c.(358-360)CTT>ATT	p.L120I	PDE4B_uc009war.2_Missense_Mutation_p.L28I|PDE4B_uc001dco.2_Missense_Mutation_p.L120I|PDE4B_uc001dcp.2_Missense_Mutation_p.L105I	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	120					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGGCTGGTACTTCACGCCAC	0.537			NA											79	80					1.39921e-30	2.20402e-30	0.01441	1	0
RPE65	6121	broad.mit.edu	37	1	68905310	68905310	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:68905310A>G	uc001dei.1	-	7	713	c.659T>C	c.(658-660)ATA>ACA	p.I220T		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	220					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						TGACTTGCTTATTGGATCTTC	0.378			NA											43	60					0	0	0.009718	0	0
CLCA4	22802	broad.mit.edu	37	1	87040257	87040257	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:87040257C>A	uc009wcs.2	+	10	1546	c.1502C>A	c.(1501-1503)GCC>GAC	p.A501D	CLCA4_uc009wct.2_Missense_Mutation_p.A264D|CLCA4_uc009wcu.2_Missense_Mutation_p.A321D	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	501						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATAGTAATGCCTGGATGAAC	0.373			NA											33	70					3.76114e-14	5.03488e-14	0.019004	1	0
COL11A1	1301	broad.mit.edu	37	1	103548481	103548481	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:103548481C>G	uc001dul.2	-	2	472	c.154G>C	c.(154-156)GAG>CAG	p.E52Q	COL11A1_uc001dum.2_Missense_Mutation_p.E52Q|COL11A1_uc001dun.2_Missense_Mutation_p.E52Q|COL11A1_uc009weh.2_Missense_Mutation_p.E52Q	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	52	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATATTCCCTCTGGAGAATTG	0.368			NA											35	42					0	0	0.012213	0	0
IGSF3	3321	broad.mit.edu	37	1	117122485	117122485	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:117122485C>A	uc001egr.1	-	10	3568	c.2863G>T	c.(2863-2865)GTG>TTG	p.V955L	IGSF3_uc001egq.1_Missense_Mutation_p.V975L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	955	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTGTGTCCACCTGCAGGGAA	0.453			NA											10	15					1.08611e-07	1.25366e-07	0.010729	1	0
WARS2	10352	broad.mit.edu	37	1	119575683	119575683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:119575683C>A	uc001ehn.2	-	6	962	c.934G>T	c.(934-936)GAG>TAG	p.E312*	WARS2_uc010oxf.1_Nonsense_Mutation_p.E218*|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Nonsense_Mutation_p.E255*|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	312					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCAAACTTCTCAATCACAGCA	0.517			NA											58	83					4.10029e-35	6.50766e-35	0.01441	1	0
BCL9	607	broad.mit.edu	37	1	147092256	147092256	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:147092256G>C	uc001epq.2	+	8	3035	c.2295G>C	c.(2293-2295)GTG>GTC	p.V765V	BCL9_uc010ozr.1_Silent_p.V691V	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	765	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGAAGATGGTGCCACTGCCAT	0.592			NA	T	IGH@|IGL@	B-ALL								18	17					0	0	0.00499	0	0
SF3B4	10262	broad.mit.edu	37	1	149898282	149898282	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:149898282C>A	uc001etj.1	-	3	743	c.692G>T	c.(691-693)GGG>GTG	p.G231V	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.G231V|SF3B4_uc009wll.1_Missense_Mutation_p.G231V	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	231						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGAGGAAGCCCAGACCCCAA	0.522			NA											44	23					5.34276e-22	7.85479e-22	0.01441	1	0
NPR1	4881	broad.mit.edu	37	1	153660565	153660565	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:153660565C>A	uc001fcs.3	+	15	2706	c.2285C>A	c.(2284-2286)CCC>CAC	p.P762H	NPR1_uc010pdz.1_Missense_Mutation_p.P508H|NPR1_uc010pea.1_Missense_Mutation_p.P240H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	762	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCAGCCCCCCTTCCGGCCC	0.667	Pancreas(141;1349 1870 15144 15830 40702)		NA											35	60					2.09667e-21	3.05036e-21	0.017118	1	0
UBAP2L	9898	broad.mit.edu	37	1	154224114	154224114	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:154224114A>G	uc001fep.3	+	14	1816	c.1649A>G	c.(1648-1650)TAT>TGT	p.Y550C	UBAP2L_uc009wot.2_Missense_Mutation_p.Y550C|UBAP2L_uc010pek.1_Missense_Mutation_p.Y542C|UBAP2L_uc010pel.1_Missense_Mutation_p.Y560C|UBAP2L_uc010pen.1_Missense_Mutation_p.Y464C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	550					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTAGCCTGTATACCAGCACG	0.478			NA											3	130					0	0	0.009096	0	0
ASH1L	55870	broad.mit.edu	37	1	155451984	155451984	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:155451984G>A	uc009wqq.2	-	3	1157	c.677C>T	c.(676-678)ACC>ATC	p.T226I	ASH1L_uc001fkt.2_Missense_Mutation_p.T226I|ASH1L_uc009wqr.1_Missense_Mutation_p.T226I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	226					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGACAGGTAGCAATCAG	0.448			NA											50	115					0	0	0.01441	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717352	155717352	+	Splice_Site	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:155717352A>C	uc010pgn.1	+	7	572	c.561_splice	c.e7-2	p.G187_splice	MSTO2P_uc010pgo.1_Splice_Site_p.G187_splice|MSTO2P_uc010pgp.1_Splice_Site	NM_018116	NP_060586			misato												0						TACTTGTGGCAGGGAAGCAGG	0.547			NA											5	25					0	0	0.00308	0	0
FCRL3	115352	broad.mit.edu	37	1	157667638	157667638	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:157667638C>G	uc001frb.2	-	5	662	c.370G>C	c.(370-372)GAC>CAC	p.D124H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D124H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.D124H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	124	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TTTTTGTTGTCTTTCCCCTGA	0.423			NA											96	58					0	0	0.01441	0	0
OR10K2	391107	broad.mit.edu	37	1	158390049	158390049	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:158390049C>A	uc010pii.1	-	1	608	c.608G>T	c.(607-609)TGT>TTT	p.C203F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GACCAATGTACAGAGCATGAA	0.453			NA											37	73					1.26612e-14	1.71684e-14	0.015359	1	0
OR6K2	81448	broad.mit.edu	37	1	158670076	158670076	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:158670076G>T	uc001fsu.1	-	1	367	c.367C>A	c.(367-369)CTG>ATG	p.L123M		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CATATGGCCAGGTAGTGGTCA	0.473			NA											32	60					1.99505e-19	2.82408e-19	0.012213	1	0
CD48	962	broad.mit.edu	37	1	160651121	160651121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:160651121C>A	uc001fwn.2	-	3	555	c.523G>T	c.(523-525)GAG>TAG	p.E175*	CD48_uc001fwo.1_Nonsense_Mutation_p.E175*	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	175	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGGAGCTCCTTTGGGAAG	0.463			NA											69	145					1.08321e-29	1.69986e-29	0.01441	1	0
USP21	27005	broad.mit.edu	37	1	161132420	161132420	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:161132420T>C	uc010pke.1	+	6	1174	c.797T>C	c.(796-798)ATT>ACT	p.I266T	USP21_uc010pkc.1_Missense_Mutation_p.I266T|USP21_uc010pkd.1_Missense_Mutation_p.I266T|USP21_uc010pkf.1_Missense_Mutation_p.I266T	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	266					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGATGTGATTGGTGCCCTC	0.507			NA											37	19					0	0	0.021022	0	0
SLC9A11	284525	broad.mit.edu	37	1	173478744	173478744	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:173478744G>C	uc001giz.2	-	24	3425	c.3002C>G	c.(3001-3003)ACT>AGT	p.T1001S	SLC9A11_uc009wwe.2_Missense_Mutation_p.T559S	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	1001					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CTGATAGGCAGTACTGAGAGC	0.318			NA											10	15					0	0	0.010729	0	0
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:186276565A>G	uc001gru.3	+	7	1765	c.1714A>G	c.(1714-1716)ACC>GCC	p.T572A	PRG4_uc001grt.3_Missense_Mutation_p.T531A|PRG4_uc009wyl.2_Missense_Mutation_p.T479A|PRG4_uc009wym.2_Missense_Mutation_p.T438A|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCACCCACCACCCCCAAGAA	0.642			NA											3	57					0	0	0.001984	0	0
CRB1	23418	broad.mit.edu	37	1	197403914	197403914	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:197403914C>G	uc001gtz.2	+	9	3056	c.2921C>G	c.(2920-2922)ACC>AGC	p.T974S	CRB1_uc010poz.1_Missense_Mutation_p.T950S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T862S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.T455S|CRB1_uc001gub.1_Missense_Mutation_p.T623S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	974	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AGAGAACTCACCAATATCACA	0.333			NA											88	54					0	0	0.01441	0	0
USH2A	7399	broad.mit.edu	37	1	216219863	216219863	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:216219863T>C	uc001hku.1	-	32	6622	c.6235A>G	c.(6235-6237)AAA>GAA	p.K2079E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2079	Extracellular (Potential).|Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGCCTTTTTGGGTGGGTTC	0.453			NA								HNSCC(13;0.011)			55	22					0	0	0.01441	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100417	220100417	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:220100417T>C	uc001hlw.2	-	2	882	c.671A>G	c.(670-672)GAA>GGA	p.E224G	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	224	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CATCATGTCTTCTGGCTCATT	0.378	Colon(76;360 1614 43677 51136)		NA											63	43					0	0	0.01441	0	0
FAM177B	400823	broad.mit.edu	37	1	222923317	222923317	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:222923317C>A	uc001hnt.2	+	6	660	c.394C>A	c.(394-396)CCT>ACT	p.P132T	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	132										ovary(1)	1						AGCTGAGGTTCCTAATGAAAA	0.448			NA											56	45					2.30037e-20	3.2896e-20	0.01441	1	0
RYR2	6262	broad.mit.edu	37	1	237538083	237538083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237538083G>T	uc001hyl.1	+	7	571	c.451G>T	c.(451-453)GAG>TAG	p.E151*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	151	Cytoplasmic (By similarity).|MIR 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGCTTGCAAGAGGACACCAC	0.493			NA											19	5					2.4624e-09	2.99056e-09	0.008871	1	0
RYR2	6262	broad.mit.edu	37	1	237580397	237580397	+	Silent	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237580397T>A	uc001hyl.1	+	11	942	c.822T>A	c.(820-822)CTT>CTA	p.L274L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	274	Cytoplasmic (By similarity).|MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACGTTCCCTTTGGAGACTAG	0.428			NA											28	21					0	0	0.009535	0	0
RYR2	6262	broad.mit.edu	37	1	237947531	237947531	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237947531A>G	uc001hyl.1	+	90	12639	c.12519A>G	c.(12517-12519)ATA>ATG	p.I4173M	RYR2_uc010pya.1_Missense_Mutation_p.I588M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4173					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACAGTTCATATTTGACGTGG	0.502			NA											34	85					0	0	0.015359	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243542029	243542029	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:243542029G>C	uc001hzw.2	+	13	1636	c.1480G>C	c.(1480-1482)GAG>CAG	p.E494Q	SDCCAG8_uc010pyk.1_Missense_Mutation_p.E349Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E306Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E306Q	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	494	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAGGAAATAGAGAAATTGAG	0.388			NA											25	56					0	0	0.021523	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243579122	243579123	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:243579122_243579123GA>TG	uc001hzw.2	+	14	1891_1892	c.1735_1736GA>TG	c.(1735-1737)GAC>TGC	p.D579C	SDCCAG8_uc010pyk.1_Missense_Mutation_p.D434C|SDCCAG8_uc010pyl.1_Missense_Mutation_p.D391C|SDCCAG8_uc001hzx.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	579	Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGCCCAGCATGACAAAACTGGT	0.52			NA											5	11					0	0	0.004672	0	0
OR2L2	26246	broad.mit.edu	37	1	248201826	248201826	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248201826A>G	uc001idw.2	+	1	353	c.257A>G	c.(256-258)TAT>TGT	p.Y86C	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			gattttctgtatggaaacaag	0.308			NA											105	269					0	0	0.01441	0	0
OR2M2	391194	broad.mit.edu	37	1	248343519	248343519	+	Missense_Mutation	SNP	G	G	A	rs143926960		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248343519G>A	uc010pzf.1	+	1	232	c.232G>A	c.(232-234)GTA>ATA	p.V78I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|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;0.0245)			CTGCACCACCGTACCCAAGAT	0.507			NA											25	389					0	0	0.00632	0	0
OR14C36	127066	broad.mit.edu	37	1	248512680	248512680	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248512680C>A	uc010pzl.1	+	1	604	c.604C>A	c.(604-606)CTG>ATG	p.L202M		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTCTCTGCTCTGGGGGTAGG	0.483			NA											69	48					1.48005e-37	2.36695e-37	0.01441	1	0
OR2T2	401992	broad.mit.edu	37	1	248616203	248616203	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248616203C>A	uc001iek.1	+	1	105	c.105C>A	c.(103-105)ATC>ATA	p.I35I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532			NA											24	215					1.64293e-13	2.17845e-13	0.01892	1	0
VIM	7431	broad.mit.edu	37	10	17271973	17271973	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:17271973C>T	uc001iou.2	+	2	965	c.552C>T	c.(550-552)CGC>CGT	p.R184R	uc001iot.1_RNA|VIM_uc001iov.1_Silent_p.R184R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R184R|VIM_uc001ioy.1_Silent_p.R184R|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R184R|VIM_uc001ipc.1_Silent_p.R184R	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	184	Rod.|Coil 1B.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACATCATGCGCCTCCGGGAGA	0.697			NA											7	3					0	0	0.001984	0	0
ARMC3	219681	broad.mit.edu	37	10	23290868	23290868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:23290868G>T	uc001irm.3	+	12	1529	c.1446G>T	c.(1444-1446)TTG>TTT	p.L482F	ARMC3_uc010qcv.1_Missense_Mutation_p.L482F|ARMC3_uc010qcw.1_Missense_Mutation_p.L219F	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	482	ARM 12.						binding				0						CTGGTGGATTGGAGCCCCTGG	0.428			NA											15	4					6.31663e-08	7.37233e-08	0.003163	1	0
APBB1IP	54518	broad.mit.edu	37	10	26789819	26789819	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:26789819G>T	uc001iss.2	+	5	553	c.232G>T	c.(232-234)GCT>TCT	p.A78S	APBB1IP_uc001isr.2_Missense_Mutation_p.A78S|APBB1IP_uc009xks.1_Missense_Mutation_p.A78S	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	78					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						CATAAGTGAGGCTGAGCAGAG	0.438			NA											35	40					6.53348e-20	9.27975e-20	0.017118	1	0
NRG3	10718	broad.mit.edu	37	10	84498383	84498383	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:84498383C>G	uc001kco.2	+	3	1031	c.1004C>G	c.(1003-1005)ACT>AGT	p.T335S	NRG3_uc010qlz.1_Missense_Mutation_p.T335S|NRG3_uc001kcp.2_Missense_Mutation_p.T114S|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	335	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGCCGAAAACTGATTCCATC	0.408			NA											52	8					0	0	0.01441	0	0
FAM190B	54462	broad.mit.edu	37	10	86131530	86131530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:86131530C>A	uc001kdh.1	+	2	916	c.722C>A	c.(721-723)TCA>TAA	p.S241*	FAM190B_uc001kdg.1_Nonsense_Mutation_p.S241*|FAM190B_uc010qmd.1_Nonsense_Mutation_p.S241*	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	241										ovary(3)|skin(1)	4						ATAACCAGATCACATTCCTTT	0.363			NA											16	62					2.23348e-06	2.50222e-06	0.004007	1	0
WAPAL	23063	broad.mit.edu	37	10	88221029	88221029	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:88221029T>A	uc001kdo.2	-	10	2828	c.2386A>T	c.(2386-2388)ATG>TTG	p.M796L	WAPAL_uc009xsv.2_Missense_Mutation_p.M110L|WAPAL_uc001kdn.2_Missense_Mutation_p.M833L|WAPAL_uc009xsw.2_Missense_Mutation_p.M790L	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	796	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						AATGTCTCCATAGCTAAATGC	0.348			NA											53	5					0	0	0.01441	0	0
DMBT1	1755	broad.mit.edu	37	10	124358481	124358481	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:124358481C>A	uc001lgk.1	+	26	3254	c.3148C>A	c.(3148-3150)CAG>AAG	p.Q1050K	DMBT1_uc001lgl.1_Missense_Mutation_p.Q1040K|DMBT1_uc001lgm.1_Missense_Mutation_p.Q551K|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1050K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.Q11K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1050	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGGTTTGGTCAGGGCTCAGG	0.602	Ovarian(182;93 2026 18125 22222 38972)		NA											118	14					1.16775e-40	1.88187e-40	0.01441	1	0
LOC399815	399815	broad.mit.edu	37	10	124647838	124647838	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:124647838C>G	uc001lgu.3	+	7	1105	c.207C>G	c.(205-207)TAC>TAG	p.Y69*	LOC399815_uc010qua.1_Nonsense_Mutation_p.Y31*					RecName: Full=Putative uncharacterized C10orf88-like protein;												0						ATGCTGGATACAAGCAAATGA	0.393			NA											22	5					0	0	0.01892	0	0
ADAM12	8038	broad.mit.edu	37	10	127755307	127755307	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:127755307C>A	uc001ljk.2	-	13	1814	c.1401G>T	c.(1399-1401)GGG>GGT	p.G467G	ADAM12_uc010qul.1_Silent_p.G418G|ADAM12_uc001ljm.2_Silent_p.G467G|ADAM12_uc001ljn.2_Silent_p.G464G|ADAM12_uc001ljl.3_Silent_p.G464G	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	467	Extracellular (Potential).|Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACAGCACAGCCCATGTGCGC	0.562			NA											11	23					6.40141e-05	6.89509e-05	0.010729	1	0
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:133758916G>A	uc001lks.2	+	5	917	c.674G>A	c.(673-675)CGC>CAC	p.R225H	PPP2R2D_uc001lkr.2_Missense_Mutation_p.R31H|PPP2R2D_uc001lkt.2_Missense_Mutation_p.R31H|PPP2R2D_uc009yay.2_Missense_Mutation_p.R93H	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	258	WD 4.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.468			NA											9	32					0	0	0.006214	0	0
OR51F1	256892	broad.mit.edu	37	11	4790455	4790455	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:4790455G>A	uc010qyl.1	-	1	693	c.693C>T	c.(691-693)GCC>GCT	p.A231A		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	231						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCAGGGGAGGCAATTCTGA	0.458			NA											48	54					0	0	0.01441	0	0
OR2D3	120775	broad.mit.edu	37	11	6942637	6942637	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:6942637C>A	uc010rav.1	+	1	405	c.405C>A	c.(403-405)TCC>TCA	p.S135S		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	135	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTGATGTCCTATGACCGGT	0.502			NA											29	75					7.01153e-11	8.7176e-11	0.007291	1	0
ZNF215	7762	broad.mit.edu	37	11	6977310	6977310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:6977310C>T	uc001mey.2	+	7	1690	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R130*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TACAGATATTCGACACCAAAA	0.333			NA											22	24					0	0	0.012319	0	0
ADM	133	broad.mit.edu	37	11	10327535	10327536	+	Silent	DNP	GC	GC	TA			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:10327535_10327536GC>TA	uc001mik.1	+	2	755_756	c.138_139GC>TA	c.(136-141)CTGCGG>CTTAGG	p.46_47LR>LR	ADM_uc001mil.1_Silent_p.46_47LR>LR|ADM_uc001mim.1_5'UTR	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor	46_47					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		AGAGGGAACTGCGGATGTCCAG	0.634			NA											10	7					0	0	0.004672	0	0
MICAL2	9645	broad.mit.edu	37	11	12263846	12263846	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:12263846G>A	uc001mjz.2	+	19	2711	c.2423G>A	c.(2422-2424)AGA>AAA	p.R808K	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R808K|MICAL2_uc010rci.1_Missense_Mutation_p.R808K|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	808						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGACCTTGGAGAGCCAGAGCC	0.607			NA											9	17					0	0	0.010729	0	0
PARVA	55742	broad.mit.edu	37	11	12518121	12518121	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:12518121A>G	uc001mki.2	+	5	566	c.517A>G	c.(517-519)AGG>GGG	p.R173G	PARVA_uc010rck.1_Missense_Mutation_p.R120G	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	173	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		ACTTCCTCCCAGGAGCATCAA	0.493			NA											7	13					0	0	0.004482	0	0
IGSF22	283284	broad.mit.edu	37	11	18731191	18731191	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:18731191G>C	uc009yht.2	-	18	2931	c.2741C>G	c.(2740-2742)TCC>TGC	p.S914C	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	813	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7						GGAGTTGGAGGAATCAGATAC	0.572			NA											5	8					0	0	0.001168	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603679	47603679	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:47603679A>G	uc001nga.2	+	5	503	c.421A>G	c.(421-423)ATC>GTC	p.I141V	NDUFS3_uc001nft.3_Missense_Mutation_p.I120V	NM_004551	NP_004542	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3	141					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	CAACTCACGGATCCGTGTGAA	0.522	Pancreas(15;551 601 22438 23457 52512)		NA											5	78					0	0	0.001168	0	0
FOLH1	2346	broad.mit.edu	37	11	49204782	49204782	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:49204782C>A	uc001ngy.2	-	7	1100	c.839G>T	c.(838-840)AGG>ATG	p.R280M	FOLH1_uc001ngz.2_Missense_Mutation_p.R280M|FOLH1_uc009yly.2_Missense_Mutation_p.R265M|FOLH1_uc009ylz.2_Missense_Mutation_p.R265M|FOLH1_uc009yma.2_Translation_Start_Site	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	280	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATTCCACGCCTATAAGCATA	0.338			NA											15	43					1.99824e-07	2.2876e-07	0.00499	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798274	55798274	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:55798274G>A	uc010riw.1	+	1	380	c.380G>A	c.(379-381)TGC>TAC	p.C127Y		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					GCAGCCATCTGCAACCCACTG	0.463			NA											16	49					0	0	0.003163	0	0
OR8J3	81168	broad.mit.edu	37	11	55904560	55904560	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:55904560A>T	uc010riz.1	-	1	635	c.635T>A	c.(634-636)ATT>AAT	p.I212N		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TAGAACTGTAATCATGGAAAA	0.358			NA											37	32					0	0	0.019004	0	0
NPAS4	266743	broad.mit.edu	37	11	66191875	66191875	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:66191875C>T	uc001ohx.1	+	7	1690	c.1514C>T	c.(1513-1515)ACC>ATC	p.T505I	NPAS4_uc010rpc.1_Missense_Mutation_p.T295I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	505					transcription, DNA-dependent		DNA binding|signal transducer activity				0						ACTCCCTGCACCTCCACCTTC	0.587			NA											103	93					0	0	0.01441	0	0
SPTBN2	6712	broad.mit.edu	37	11	66455339	66455339	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:66455339C>A	uc001ojd.2	-	33	6573	c.6501G>T	c.(6499-6501)CCG>CCT	p.P2167P	SPTBN2_uc001ojc.1_Missense_Mutation_p.R28L	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2167					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGGAACTCACCGGCCCTTCGG	0.607			NA											32	35					1.836e-18	2.58149e-18	0.017118	1	0
PTPRCAP	5790	broad.mit.edu	37	11	67203241	67203241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:67203241G>T	uc001oli.1	-	2	647	c.584C>A	c.(583-585)GCA>GAA	p.A195E		NM_005608	NP_005599	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type,	195					defense response	integral to membrane|plasma membrane					0			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCCCCAGCTGCCCTGGCGCT	0.687			NA											10	10					9.70103e-10	1.18852e-09	0.008291	1	0
GRM5	2915	broad.mit.edu	37	11	88780709	88780709	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:88780709T>A	uc001pcq.2	-	1	532	c.332A>T	c.(331-333)GAG>GTG	p.E111V	GRM5_uc009yvm.2_Missense_Mutation_p.E111V|GRM5_uc009yvn.1_Missense_Mutation_p.E111V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	111	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTTATGAACTCAATGCTCTG	0.517			NA											7	21					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92088374	92088374	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:92088374G>T	uc001pdj.3	+	1	3113	c.3096G>T	c.(3094-3096)GTG>GTT	p.V1032V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1032	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGGTGGATGTCAATG	0.468			NA								TCGA Ovarian(4;0.039)			20	13					2.37509e-13	3.11963e-13	0.010504	1	0
HEPHL1	341208	broad.mit.edu	37	11	93837701	93837701	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:93837701A>G	uc001pep.2	+	16	2847	c.2690A>G	c.(2689-2691)TAT>TGT	p.Y897C	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	897	Plastocyanin-like 5.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGATACGTATAGTGGTTTG	0.353			NA											26	13					0	0	0.007291	0	0
CNTN5	53942	broad.mit.edu	37	11	100061936	100061936	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:100061936G>A	uc001pga.2	+	14	1998	c.1659G>A	c.(1657-1659)GGG>GGA	p.G553G	CNTN5_uc009ywv.1_Silent_p.G553G|CNTN5_uc001pfz.2_Silent_p.G553G|CNTN5_uc001pgb.2_Silent_p.G479G|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	553	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGCCGAGGGGAAAACGTCT	0.403			NA											6	15					0	0	0.001984	0	0
NTM	50863	broad.mit.edu	37	11	132081940	132081940	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:132081940C>T	uc001qgp.2	+	3	1089	c.425C>T	c.(424-426)TCT>TTT	p.S142F	NTM_uc001qgm.2_Missense_Mutation_p.S142F|NTM_uc010sch.1_Missense_Mutation_p.S133F|NTM_uc010sci.1_Missense_Mutation_p.S142F|NTM_uc010scj.1_Missense_Mutation_p.S101F|NTM_uc001qgo.2_Missense_Mutation_p.S142F|NTM_uc001qgq.2_Missense_Mutation_p.S142F|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GTAGAGATTTCTTCAGATATC	0.393			NA											14	19					0	0	0.020292	0	0
AKAP3	10566	broad.mit.edu	37	12	4737626	4737626	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:4737626C>T	uc001qnb.3	-	4	671	c.442G>A	c.(442-444)GAT>AAT	p.D148N		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	148					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						TCAGAGCCATCGATCTTCTCA	0.453			NA											11	160					0	0	0.010729	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717085	13717085	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:13717085G>A	uc001rbt.2	-	13	3266	c.3087C>T	c.(3085-3087)TCC>TCT	p.S1029S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1029	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTGCTTGGAGGAGGGGAGGC	0.592			NA											6	21					0	0	0.001984	0	0
SLC2A13	114134	broad.mit.edu	37	12	40441975	40441975	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:40441975C>A	uc010skm.1	-	2	645	c.594G>T	c.(592-594)GAG>GAT	p.E198D	SLC2A13_uc001rmf.2_Missense_Mutation_p.E198D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	198	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGGTGAGACCTCCGCAATGT	0.403			NA								HNSCC(50;0.14)			74	109					2.40982e-25	3.65838e-25	0.01441	1	0
ARID2	196528	broad.mit.edu	37	12	46230616	46230616	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:46230616A>G	uc001ros.1	+	8	865	c.865A>G	c.(865-867)ATT>GTT	p.I289V	ARID2_uc001ror.2_Missense_Mutation_p.I289V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	289					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTACTTCAGATTGCAGTGAT	0.418			NA											17	126					0	0	0.004007	0	0
MLL2	8085	broad.mit.edu	37	12	49445464	49445465	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:49445464_49445465CC>AA	uc001rta.3	-	10	2001_2002	c.2001_2002GG>TT	c.(1999-2004)GAGGAA>GATTAA	p.667_668EE>D*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	667_668	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AAGGGAGATTCCTCAGGCGGTG	0.644			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			27	36					0	0	0.004672	0	0
GALNT6	11226	broad.mit.edu	37	12	51773084	51773084	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:51773084C>A	uc001ryk.2	-	2	707	c.482G>T	c.(481-483)CGA>CTA	p.R161L	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.R161L|GALNT6_uc010snh.1_Missense_Mutation_p.R161L	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	161	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CTCAGGTGGTCGGGTGTCTGG	0.562			NA											10	32					5.50884e-06	6.12255e-06	0.013537	1	0
KRT2	3849	broad.mit.edu	37	12	53044148	53044148	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:53044148C>A	uc001sat.2	-	2	808	c.775G>T	c.(775-777)GAT>TAT	p.D259Y		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	259	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACAAGATCCTGCATGTTA	0.463			NA											65	96					2.81305e-35	4.48163e-35	0.01441	1	0
SP7	121340	broad.mit.edu	37	12	53722249	53722249	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:53722249C>G	uc001sct.2	-	2	1084	c.977G>C	c.(976-978)TGC>TCC	p.C326S	SP7_uc001scu.2_Missense_Mutation_p.C308S|SP7_uc001scv.2_Missense_Mutation_p.C326S	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	326	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGCCAGTTGCAGACGAAGGG	0.612			NA											18	31					0	0	0.006122	0	0
MYO1A	4640	broad.mit.edu	37	12	57422590	57422590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57422590C>A	uc001smw.3	-	28	3324	c.3081G>T	c.(3079-3081)AAG>AAT	p.K1027N	MYO1A_uc010sqz.1_Missense_Mutation_p.K865N|MYO1A_uc009zpd.2_Missense_Mutation_p.K1027N	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	1027					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						TGTAGCGTAGCTTGCTGTTGT	0.542			NA											38	39					6.2361e-21	9.0101e-21	0.007835	1	0
KIF5A	3798	broad.mit.edu	37	12	57960909	57960909	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57960909G>T	uc001sor.1	+	7	710	c.502G>T	c.(502-504)GGT>TGT	p.G168C	KIF5A_uc010srr.1_Missense_Mutation_p.G79C	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	168	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TCCCCCACAGGGTTGTACTGA	0.348			NA											40	58					1.57945e-13	2.10092e-13	0.011902	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57989697	57989697	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57989697C>T	uc001sou.2	+	4	527	c.396C>T	c.(394-396)AGC>AGT	p.S132S	PIP4K2C_uc001sot.2_Silent_p.S132S|PIP4K2C_uc010srs.1_Silent_p.S114S|PIP4K2C_uc010srt.1_Intron	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	132	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					ACCCCCCCAGCGAAAGTGAAG	0.493			NA											7	68					0	0	0.00308	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994654	57994654	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57994654C>T	uc001sou.2	+	8	1005	c.874C>T	c.(874-876)CGG>TGG	p.R292W	PIP4K2C_uc001sot.2_Missense_Mutation_p.R292W|PIP4K2C_uc010srs.1_Missense_Mutation_p.R274W|PIP4K2C_uc010srt.1_Missense_Mutation_p.R244W	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					CGACATCATTCGGGGCTCTGA	0.562			NA											31	239					0	0	0.013726	0	0
IRAK3	11213	broad.mit.edu	37	12	66638982	66638982	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:66638982C>T	uc001sth.2	+	11	1356	c.1254C>T	c.(1252-1254)CTC>CTT	p.L418L	IRAK3_uc010ssy.1_Silent_p.L357L	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	418	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		CTGCCAAGCTCTTCTGTTTGG	0.463			NA											53	59					0	0	0.01441	0	0
TRHDE	29953	broad.mit.edu	37	12	72936110	72936110	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:72936110C>A	uc001sxa.2	+	7	1657	c.1627C>A	c.(1627-1629)CAT>AAT	p.H543N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	543	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TTTTATGGGCCATTCAGTTTT	0.308			NA											18	59					2.54575e-18	3.56745e-18	0.010504	1	0
PPFIA2	8499	broad.mit.edu	37	12	81751934	81751934	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:81751934G>A	uc001szo.1	-	16	1861	c.1700C>T	c.(1699-1701)TCT>TTT	p.S567F	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	493										ovary(3)|lung(2)|pancreas(1)	6						TCTGTAATCAGACTGGCTGTC	0.418			NA											4	6					0	0	0.009096	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449837	85449837	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:85449837A>T	uc001tac.2	+	8	1377	c.1266A>T	c.(1264-1266)ATA>ATT	p.I422I	LRRIQ1_uc001tab.1_Silent_p.I422I|LRRIQ1_uc001taa.1_Silent_p.I397I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	422										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGGGTGATATAGCCAAAAATC	0.323			NA											49	84					0	0	0.01441	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038549	102038549	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:102038549G>T	uc001tii.2	+	10	967	c.865G>T	c.(865-867)GGT>TGT	p.G289C	MYBPC1_uc001tif.1_Missense_Mutation_p.G302C|MYBPC1_uc001tig.2_Missense_Mutation_p.G314C|MYBPC1_uc010svq.1_Missense_Mutation_p.G276C|MYBPC1_uc001tih.2_Missense_Mutation_p.G314C|MYBPC1_uc001tij.2_Missense_Mutation_p.G289C|MYBPC1_uc010svr.1_Missense_Mutation_p.G289C|MYBPC1_uc010svs.1_Missense_Mutation_p.G289C|MYBPC1_uc010svt.1_Missense_Mutation_p.G277C|MYBPC1_uc010svu.1_Missense_Mutation_p.G270C|MYBPC1_uc001tik.2_Missense_Mutation_p.G263C	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	289	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GTATAAAAATGGTCAAGAAAT	0.393			NA											19	27					8.10497e-08	9.43329e-08	0.010504	1	0
SACS	26278	broad.mit.edu	37	13	23915110	23915110	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:23915110T>A	uc001uon.2	-	10	3494	c.2905A>T	c.(2905-2907)AGT>TGT	p.S969C	SACS_uc001uoo.2_Missense_Mutation_p.S822C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	969					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATCACTACTGTCTATTACT	0.358			NA											43	18					0	0	0.00874	0	0
C13orf33	84935	broad.mit.edu	37	13	31495960	31495960	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:31495960G>T	uc001uth.3	+	4	1105	c.764G>T	c.(763-765)CGA>CTA	p.R255L	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	255											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)		TTCTCTGACCGAAAGTTCAGT	0.363			NA											29	6					1.04266e-39	1.67385e-39	0.021022	1	0
NBEA	26960	broad.mit.edu	37	13	36167465	36167465	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:36167465G>A	uc001uvb.2	+	47	7383	c.7177G>A	c.(7177-7179)GAA>AAA	p.E2393K	NBEA_uc010abi.2_Missense_Mutation_p.E1049K|NBEA_uc010tee.1_Missense_Mutation_p.E186K|NBEA_uc010tef.1_Missense_Mutation_p.E186K|NBEA_uc010teg.1_Missense_Mutation_p.E186K|NBEA_uc001uvd.2_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2393	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTGCTTAGGAACCTTTCAC	0.408			NA											32	5					0	0	0.012213	0	0
POTEG	404785	broad.mit.edu	37	14	19553741	19553741	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:19553741T>A	uc001vuz.1	+	1	377	c.325T>A	c.(325-327)TGC>AGC	p.C109S	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	109										ovary(1)	1						CTTCCCCTGCTGCAGGGGGAG	0.592			NA											44	250					0	0	0.01441	0	0
SSTR1	6751	broad.mit.edu	37	14	38679067	38679067	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:38679067C>T	uc001wul.1	+	3	1090	c.473C>T	c.(472-474)GCC>GTC	p.A158V	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	158	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGCTACGTGGCCGTGGTGCAT	0.647			NA											39	11					0	0	0.007835	0	0
RTN1	6252	broad.mit.edu	37	14	60193880	60193880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:60193880C>A	uc001xen.1	-	3	1731	c.1522G>T	c.(1522-1524)GAG>TAG	p.E508*	RTN1_uc001xem.1_Nonsense_Mutation_p.E88*	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	508					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGCGCACGCTCCTCGGCCCGG	0.731			NA											3	1					0.004672	0.0048335	0.004672	1	0
SPTB	6710	broad.mit.edu	37	14	65289696	65289696	+	Silent	SNP	G	G	T	rs147811055		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:65289696G>T	uc001xht.2	-	1	171	c.117C>A	c.(115-117)CTC>CTA	p.L39L	SPTB_uc001xhr.2_Silent_p.L39L|SPTB_uc001xhs.2_Silent_p.L39L|SPTB_uc001xhu.2_Silent_p.L39L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	39	Actin-binding.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTCTCAAAGAGCCTGGCTG	0.562			NA									OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	9					2.35958e-20	3.36281e-20	0.009718	1	0
ACOT4	122970	broad.mit.edu	37	14	74061971	74061971	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:74061971G>C	uc001xoo.2	+	3	1133	c.879G>C	c.(877-879)GTG>GTC	p.V293V		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	293					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGACATTGTGGATATAAGGA	0.507			NA											28	6					0	0	0.007291	0	0
TMEM90A	646658	broad.mit.edu	37	14	74876055	74876055	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:74876055C>T	uc001xpx.2	-	2	641	c.393G>A	c.(391-393)CAG>CAA	p.Q131Q		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	131					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GGTCATCCTCCTGGTCCCGCA	0.433			NA											75	12					0	0	0.01441	0	0
KIAA0284	283638	broad.mit.edu	37	14	105350364	105350364	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:105350364G>C	uc010axb.2	+	9	1472	c.1248G>C	c.(1246-1248)AAG>AAC	p.K416N	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.K346N|KIAA0284_uc001yps.2_Missense_Mutation_p.K322N	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	416						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CACCCCGAAAGAAGCGCTCCC	0.652			NA											4	1					0	0	0.014758	0	0
C15orf2	23742	broad.mit.edu	37	15	24921226	24921226	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:24921226C>A	uc001ywo.2	+	1	686	c.212C>A	c.(211-213)CCG>CAG	p.P71Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	71					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTAAGAGGCCGTGTCCTCTC	0.701			NA											8	16					0.00621372	0.00641268	0.006214	1	0
GABRA5	2558	broad.mit.edu	37	15	27159949	27159949	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:27159949G>T	uc001zbd.1	+	8	837	c.498_splice	c.e8-1	p.R166_splice	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTTCAGCTTGACCATC	0.448			NA											11	15					2.27111e-07	2.58586e-07	0.013537	1	0
RYR3	6263	broad.mit.edu	37	15	33835899	33835899	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:33835899G>T	uc001zhi.2	+	8	793	c.723G>T	c.(721-723)CAG>CAT	p.Q241H	RYR3_uc010bar.2_Missense_Mutation_p.Q241H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	241	MIR 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAGACCAGAATGATTCCC	0.398			NA											49	92					2.68985e-26	4.12838e-26	0.01441	1	0
RYR3	6263	broad.mit.edu	37	15	34130188	34130188	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:34130188G>A	uc001zhi.2	+	89	12077	c.12007G>A	c.(12007-12009)GAA>AAA	p.E4003K	RYR3_uc010bar.2_Missense_Mutation_p.E3998K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4003					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAATCTTTCTGAACACATGCC	0.448			NA											56	61					0	0	0.01441	0	0
MGA	23269	broad.mit.edu	37	15	42005461	42005461	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:42005461G>T	uc001zog.1	+	9	3288	c.3197G>T	c.(3196-3198)CGC>CTC	p.R1066L	MGA_uc010ucy.1_Missense_Mutation_p.R1066L|MGA_uc010ucz.1_Missense_Mutation_p.R1066L	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	1066						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTGGAGAAGCGCCAACCTGCT	0.448			NA											32	33					5.90632e-09	7.11135e-09	0.012213	1	0
TGM5	9333	broad.mit.edu	37	15	43552773	43552773	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:43552773T>C	uc001zrd.1	-	2	23	c.15A>G	c.(13-15)CTA>CTG	p.L5L	TGM5_uc001zre.1_Silent_p.L5L	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	5					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGGCCACTTCTAGCCCTGCAA	0.453			NA											46	32					0	0	0.01441	0	0
ATP8B4	79895	broad.mit.edu	37	15	50154564	50154564	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:50154564G>T	uc001zxu.2	-	27	3317	c.3175C>A	c.(3175-3177)CGA>AGA	p.R1059R	ATP8B4_uc010ber.2_Silent_p.R932R|ATP8B4_uc010ufd.1_Silent_p.R869R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.R62R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1059	Extracellular (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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGGGAATGTCGTGCATTACCT	0.358			NA											27	26					9.39395e-14	1.25352e-13	0.00632	1	0
ATP8B4	79895	broad.mit.edu	37	15	50158550	50158550	+	Silent	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:50158550T>A	uc001zxu.2	-	26	3301	c.3159A>T	c.(3157-3159)CCA>CCT	p.P1053P	ATP8B4_uc010ber.2_Silent_p.P926P|ATP8B4_uc010ufd.1_Silent_p.P863P|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.P56P	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1053	Extracellular (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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACCAACAAATGGAAACTGGT	0.388			NA											25	52					0	0	0.021523	0	0
C15orf27	123591	broad.mit.edu	37	15	76496245	76496245	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:76496245C>T	uc002bbq.2	+	11	1340	c.1185C>T	c.(1183-1185)ACC>ACT	p.T395T	C15orf27_uc010bkp.2_Silent_p.T211T|C15orf27_uc002bbr.2_Silent_p.T211T|C15orf27_uc002bbs.2_Silent_p.T73T	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	395						integral to membrane					0						GCTCAGTCACCCGGGCCCAGA	0.677			NA											23	17					0	0	0.016522	0	0
ZNF592	9640	broad.mit.edu	37	15	85325992	85325992	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:85325992C>T	uc002bld.2	+	4	422	c.86C>T	c.(85-87)GCC>GTC	p.A29V	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	29					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAGGAGGCCATCCAGACA	0.537			NA											25	64					0	0	0.004656	0	0
WDR90	197335	broad.mit.edu	37	16	716315	716315	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:716315G>T	uc002cii.1	+	37	4759	c.4705G>T	c.(4705-4707)GCC>TCC	p.A1569S	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.A184S|WDR90_uc010uul.1_Missense_Mutation_p.A168S|WDR90_uc002cio.1_Missense_Mutation_p.A168S|WDR90_uc010bqx.1_Missense_Mutation_p.A168S|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1569	WD 20.									ovary(1)	1		Hepatocellular(780;0.0218)				CCACCAGGGCGCCCCAATCTC	0.627			NA											25	26					2.44723e-14	3.28651e-14	0.004656	1	0
NAT15	79903	broad.mit.edu	37	16	3533373	3533373	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:3533373A>T	uc002cvh.3	+	6	594	c.348A>T	c.(346-348)TTA>TTT	p.L116F	NAT15_uc010uxb.1_Missense_Mutation_p.L123F|NAT15_uc010btk.1_Missense_Mutation_p.L51F|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.L116F|NAT15_uc010uxc.1_Missense_Mutation_p.L116F|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.L116F	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	116	N-acetyltransferase.						N-acetyltransferase activity				0						GTTCCCTCTTACTTGAAAGTT	0.488			NA											3	13					0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857220	9857220	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:9857220T>A	uc002czo.3	-	13	4729	c.4181A>T	c.(4180-4182)CAG>CTG	p.Q1394L	GRIN2A_uc010uym.1_Missense_Mutation_p.Q1394L|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1123W|GRIN2A_uc002czr.3_Missense_Mutation_p.R1280W	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1394	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCACCGCCTGGGATGGCAA	0.542			NA											21	32					0	0	0.012319	0	0
Unknown	0	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:15457701G>A	uc010bvf.1	-	9	812	c.812C>T	c.(811-813)GCT>GTT	p.A271V						RecName: Full=NPIP-like protein 1;												NA						AGGGGAGTGAGCAGACACTCG	0.562			NA											4	93					0	0	0.001984	0	0
ACSM5	54988	broad.mit.edu	37	16	20451223	20451223	+	Silent	SNP	A	A	G	rs112747866		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:20451223A>G	uc002dhe.2	+	13	1785	c.1638A>G	c.(1636-1638)CCA>CCG	p.P546P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	546					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TGACTGCTCCATACAAATACC	0.448			NA											22	41					0	0	0.012319	0	0
ITGAX	3687	broad.mit.edu	37	16	31372509	31372509	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:31372509G>A	uc002ebu.1	+	9	1054	c.987G>A	c.(985-987)CTG>CTA	p.L329L	ITGAX_uc002ebt.2_Silent_p.L329L|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	329	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAAACCAACTGAAGGAGAAGA	0.453			NA											51	79					0	0	0.01441	0	0
CDH8	1006	broad.mit.edu	37	16	61689397	61689397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:61689397A>T	uc002eog.1	-	11	2135	c.1883T>A	c.(1882-1884)TTA>TAA	p.L628*		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	628	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATGCATGCTAATATGGCAAT	0.438			NA											23	37					0	0	0.021523	0	0
CENPT	80152	broad.mit.edu	37	16	67864378	67864378	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:67864378G>A	uc002eun.3	-	11	1326	c.777C>T	c.(775-777)CCC>CCT	p.P259P	CENPT_uc002eum.3_Silent_p.P259P|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Silent_p.P12P|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	259					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGGCGTGCAGGGCAGGGAGT	0.597			NA											7	14					0	0	0.001984	0	0
LRRC50	123872	broad.mit.edu	37	16	84182725	84182725	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:84182725G>A	uc002fhl.3	+	2	419	c.238G>A	c.(238-240)GAC>AAC	p.D80N	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	80			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CCCAAGAGAAGACAGGGAAGA	0.393			NA							Kartagener_syndrome				19	41					0	0	0.007413	0	0
SPG7	6687	broad.mit.edu	37	16	89613071	89613071	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:89613071G>T	uc002fnj.2	+	11	1476	c.1455G>T	c.(1453-1455)AGG>AGT	p.R485S	SPG7_uc002fnk.1_RNA	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	485	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCAGGAGAGGCGGGAGATTT	0.567			NA											3	42					0.000602214	0.000635586	0.014758	1	0
SLC13A5	284111	broad.mit.edu	37	17	6610448	6610448	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:6610448G>A	uc002gdj.2	-	2	218	c.130C>T	c.(130-132)CTC>TTC	p.L44F	SLC13A5_uc010vtf.1_Missense_Mutation_p.L44F|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Missense_Mutation_p.L44F|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	44						integral to membrane	citrate transmembrane transporter activity				0						ATGGCCATGAGGATGATGACG	0.572			NA											3	12					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:7579414C>T	uc002gim.2	-	4	467	c.273G>A	c.(271-273)TGG>TGA	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	91	Interaction with WWOX.		W -> C (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.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		ATGACAGGGGCCAGGAGGGGG	0.627	Pancreas(47;798 1329 9957 10801)		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-Fraumensyndrome|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)			39	10					0	0	0.005524	0	0
MYH4	4622	broad.mit.edu	37	17	10348183	10348183	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:10348183G>T	uc002gmn.2	-	38	5611	c.5500C>A	c.(5500-5502)CAG>AAG	p.Q1834K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1834	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTGTGCTTCTGTTCACTTTCC	0.468			NA											56	13					9.53978e-28	1.46955e-27	0.01441	1	0
MYH2	4620	broad.mit.edu	37	17	10443380	10443380	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:10443380C>T	uc010coi.2	-	12	1140	c.1012G>A	c.(1012-1014)GCT>ACT	p.A338T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A338T|MYH2_uc010coj.2_Missense_Mutation_p.A338T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	338	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						ATATCAATAGCACTCTGTCAA	0.408			NA											47	14					0	0	0.011902	0	0
HOXB9	3219	broad.mit.edu	37	17	46700481	46700481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:46700481G>C	uc002inx.2	-	2	738	c.534C>G	c.(532-534)AAC>AAG	p.N178K		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	178					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGTGCAGCCAGTTGGCGGAGG	0.542			NA											47	56					0	0	0.01441	0	0
SPAG9	9043	broad.mit.edu	37	17	49073994	49073994	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:49073994C>T	uc002itc.2	-	16	2109	c.1900G>A	c.(1900-1902)GCA>ACA	p.A634T	SPAG9_uc002itb.2_Missense_Mutation_p.A620T|SPAG9_uc002itd.2_Missense_Mutation_p.A624T|SPAG9_uc002itf.2_Missense_Mutation_p.A455T|SPAG9_uc002ita.2_Missense_Mutation_p.A477T|SPAG9_uc002ite.2_Missense_Mutation_p.A464T	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	634					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGAACATGTGCTTTTACCTGA	0.423			NA											12	38					0	0	0.010729	0	0
TEX14	56155	broad.mit.edu	37	17	56693591	56693591	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:56693591C>A	uc010dcz.1	-	7	848	c.730G>T	c.(730-732)GCT>TCT	p.A244S	TEX14_uc002iwr.1_Missense_Mutation_p.A238S|TEX14_uc002iws.1_Missense_Mutation_p.A238S|TEX14_uc010dda.1_Missense_Mutation_p.A18S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	244	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATCAGCTTGAATCACT	0.493			NA											18	24					1.99824e-07	2.2876e-07	0.00499	1	0
CD300LD	100131439	broad.mit.edu	37	17	72584765	72584765	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:72584765G>A	uc002jkz.2	-	2	293	c.264C>T	c.(262-264)CAC>CAT	p.H88H	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	88	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity				0						CGGTGAACACGTGGTTTTTCT	0.428			NA											76	96					0	0	0.01441	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846704	72846704	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:72846704T>A	uc002jlt.1	-	5	1472	c.1316A>T	c.(1315-1317)CAC>CTC	p.H439L	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.H439L|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	439	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCTGAAGGTGTGGTTGCTCTG	0.642			NA											35	42					0	0	0.019004	0	0
ENGASE	64772	broad.mit.edu	37	17	77078118	77078118	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:77078118G>T	uc002jwv.2	+	7	1019	c.1011G>T	c.(1009-1011)GTG>GTT	p.V337V	ENGASE_uc002jwu.1_Silent_p.V337V|ENGASE_uc010wtz.1_Silent_p.V151V|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	337	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GAGGGAACGTGGTCGGAGGCC	0.637			NA											49	51					1.19451e-25	1.82e-25	0.01441	1	0
CBX4	8535	broad.mit.edu	37	17	77808278	77808278	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:77808278G>C	uc002jxe.2	-	5	1326	c.1163C>G	c.(1162-1164)CCC>CGC	p.P388R		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	388	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			gtggtgatgggggtgcgggtg	0.502			NA											3	1					0	0	0.004672	0	0
CEP192	55125	broad.mit.edu	37	18	13059303	13059303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:13059303G>A	uc010xac.1	+	21	4560	c.4480G>A	c.(4480-4482)GTT>ATT	p.V1494I	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.V1019I|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.V1235I	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1494										ovary(4)|pancreas(1)	5						CGAGAGTCCTGTTATTGAGGT	0.428			NA											4	87					0	0	0.009096	0	0
SYT4	6860	broad.mit.edu	37	18	40850395	40850395	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:40850395C>A	uc002law.2	-	4	1558	c.1189G>T	c.(1189-1191)GCA>TCA	p.A397S	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.A379S|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	397	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						GTTCCTTCTGCTGCTGCACCC	0.493	NSCLC(85;81 1419 2855 22820 35912)		NA											86	118					5.01443e-46	8.17527e-46	0.01441	1	0
NETO1	81832	broad.mit.edu	37	18	70417732	70417732	+	Missense_Mutation	SNP	C	C	T	rs140307788	byFrequency	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:70417732C>T	uc002lkw.2	-	9	1390	c.1106G>A	c.(1105-1107)CGT>CAT	p.R369H	NETO1_uc002lkx.1_Missense_Mutation_p.R368H|NETO1_uc002lky.1_Missense_Mutation_p.R369H	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	369	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTTTTTACGAGGCTGTTT	0.458			NA											26	44					0	0	0.005443	0	0
ZADH2	284273	broad.mit.edu	37	18	72913607	72913607	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:72913607C>T	uc002llx.2	-	2	1166	c.898G>A	c.(898-900)GTA>ATA	p.V300I	ZADH2_uc010dqv.2_Missense_Mutation_p.V177I	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	300						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		AAGCCCTGTACGCTGGCAGAT	0.493			NA											32	42					0	0	0.012213	0	0
MATK	4145	broad.mit.edu	37	19	3779791	3779791	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:3779791G>T	uc002lyt.2	-	9	1147	c.747C>A	c.(745-747)GTC>GTA	p.V249V	MATK_uc002lyv.2_Silent_p.V250V|MATK_uc002lyu.2_Silent_p.V208V|MATK_uc010dtq.2_Silent_p.V249V	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	249	ATP (By similarity).|Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCTGCAGGACAGCTGGGG	0.622			NA											17	4					0.00074312	0.000780369	0.006122	1	0
ARRDC5	645432	broad.mit.edu	37	19	4896732	4896732	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:4896732T>C	uc002mbm.2	-	2	452	c.452A>G	c.(451-453)TAC>TGC	p.Y151C		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	151					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AACCAATAAGTACATCCTCTT	0.483			NA											26	6					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9049765	9049765	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9049765T>C	uc002mkp.2	-	5	32070	c.31866A>G	c.(31864-31866)TTA>TTG	p.L10622L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10624	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATACAGTGTCTAATTCACTGT	0.483			NA											48	14					0	0	0.013114	0	0
MUC16	94025	broad.mit.edu	37	19	9063480	9063480	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9063480G>C	uc002mkp.2	-	3	24170	c.23966C>G	c.(23965-23967)ACA>AGA	p.T7989R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7991	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCTGGTAATGTGGAGGAAAC	0.468			NA											12	4					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9091090	9091090	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9091090G>T	uc002mkp.2	-	1	929	c.725C>A	c.(724-726)CCT>CAT	p.P242H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	242	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTCCCTTTAGGTGATAGGTC	0.478			NA											38	5					1.42033e-22	2.10289e-22	0.019004	1	0
ATG4D	84971	broad.mit.edu	37	19	10655478	10655478	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:10655478G>T	uc002mov.2	+	2	375	c.255G>T	c.(253-255)CGG>CGT	p.R85R	ATG4D_uc010xlg.1_Silent_p.R108R|ATG4D_uc010xlh.1_Silent_p.R22R|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	85					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTAAAAGCCGGACCAGCTTTA	0.547			NA											31	14					2.08457e-15	2.85436e-15	0.010818	1	0
BRD4	23476	broad.mit.edu	37	19	15367954	15367954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:15367954G>T	uc002nar.2	-	8	1594	c.1372C>A	c.(1372-1374)CCG>ACG	p.P458T	BRD4_uc002nas.2_Missense_Mutation_p.P458T|BRD4_uc002nat.3_Missense_Mutation_p.P458T|BRD4_uc002nau.3_Missense_Mutation_p.P458T	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	458					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGCTCGTCCGGCATCTTGGCA	0.652			NA	T	NUT|C15orf55	lethal midline carcinoma of young people								7	1					1.26484e-09	1.54061e-09	0.00308	1	0
SLC35E1	79939	broad.mit.edu	37	19	16664607	16664607	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:16664607G>A	uc010xph.1	-	6	1134	c.1116C>T	c.(1114-1116)CTC>CTT	p.L372L	MED26_uc002nee.2_RNA	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	372					transport	integral to membrane				ovary(1)|central_nervous_system(1)	2						GGGGGAAGAGGAGGCCGTTGT	0.587			NA											41	16					0	0	0.00874	0	0
KLHL26	55295	broad.mit.edu	37	19	18778558	18778558	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:18778558C>G	uc002njz.1	+	3	378	c.351C>G	c.(349-351)ATC>ATG	p.I117M		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	117	BTB.									ovary(1)	1						TGCGGCACATCATCGACTTCG	0.662			NA											25	23					0	0	0.004656	0	0
ZNF43	7594	broad.mit.edu	37	19	21992461	21992461	+	Silent	SNP	C	C	T	rs147543020		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:21992461C>T	uc002nqj.2	-	4	508	c.378G>A	c.(376-378)GTG>GTA	p.V126V	ZNF43_uc010ecv.2_Silent_p.V120V|ZNF43_uc002nql.2_Silent_p.V120V|ZNF43_uc002nqm.2_Silent_p.V120V|ZNF43_uc002nqk.2_Silent_p.V56V	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCCTCTGTGCACCTTACACT	0.323			NA											31	58					0	0	0.015359	0	0
ZNF676	163223	broad.mit.edu	37	19	22379529	22379529	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:22379529C>A	uc002nqs.1	-	1	225	c.-93G>T	c.(-95--91)CAGGG>CATGG			NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAATGCTCCCTGGAAAACAC	0.413			NA											30	37					2.08457e-15	2.85436e-15	0.010818	1	0
ZNF99	7652	broad.mit.edu	37	19	22942366	22942366	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:22942366T>A	uc010xrh.1	-	4	408	c.408A>T	c.(406-408)AAA>AAT	p.K136N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCACAATCTTTTCTTAATC	0.338			NA											23	40					0	0	0.021523	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:24010294C>G	uc002nrn.2	+	4	754	c.331C>G	c.(331-333)CAG>GAG	p.Q111E		NM_002295	NP_002286			ribosomal protein SA												0						CTTCACTAACCAGATCCAGGC	0.567			NA											3	41					0	0	0.004672	0	0
ZNF536	9745	broad.mit.edu	37	19	31039889	31039889	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:31039889G>T	uc002nsu.1	+	4	3501	c.3363G>T	c.(3361-3363)ATG>ATT	p.M1121I	ZNF536_uc010edd.1_Missense_Mutation_p.M1121I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ACCCAGGCATGGTTGGCTCAG	0.562			NA											17	24					4.14922e-12	5.33289e-12	0.004007	1	0
CCDC123	84902	broad.mit.edu	37	19	33439179	33439179	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:33439179T>C	uc002nty.2	-	5	677	c.588A>G	c.(586-588)CAA>CAG	p.Q196Q	CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.Q196Q|CCDC123_uc002nua.2_Silent_p.Q196Q|CCDC123_uc002nub.1_Silent_p.Q88Q	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	196						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					TACCTTTTTGTTGTGTCCGCT	0.353			NA											19	17					0	0	0.008871	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350399	36350399	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:36350399G>T	uc002ocb.3	+	5	751	c.539G>T	c.(538-540)GGG>GTG	p.G180V	KIRREL2_uc002obz.3_Missense_Mutation_p.G180V|KIRREL2_uc002oca.3_Missense_Mutation_p.G130V|KIRREL2_uc002occ.3_Missense_Mutation_p.G127V|KIRREL2_uc002ocd.3_Missense_Mutation_p.G177V	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	180	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAAGGAAGGGACCCCTGGG	0.448			NA											19	28					1.64113e-05	1.80957e-05	0.010504	1	0
RASGRP4	115727	broad.mit.edu	37	19	38905688	38905688	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:38905688C>G	uc002oir.2	-	9	1244	c.1030G>C	c.(1030-1032)GCG>CCG	p.A344P	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Intron|RASGRP4_uc010xub.1_Missense_Mutation_p.A310P|RASGRP4_uc010xuc.1_Intron|RASGRP4_uc010xud.1_Missense_Mutation_p.A247P|RASGRP4_uc010xue.1_Intron|RASGRP4_uc010egb.2_Missense_Mutation_p.A330P	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	344	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.A344E(1)		pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGAAACCCGCGCAGCCAGCC	0.672			NA											6	5					0	0	0.001984	0	0
FCGBP	8857	broad.mit.edu	37	19	40430472	40430472	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:40430472T>G	uc002omp.3	-	3	1479	c.1471A>C	c.(1471-1473)ATG>CTG	p.M491L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	491	VWFD 1.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGTGCCCATCATGTCGTAG	0.687			NA											4	6					0	0	0.009096	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932338	41932338	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:41932338G>T	uc002oqs.2	-	3	800	c.346C>A	c.(346-348)CGC>AGC	p.R116S	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	116	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						AAGAAGCGGCGGAGGTCCTTG	0.667			NA											13	20					0.00244969	0.00254065	0.020292	1	0
MARK4	57787	broad.mit.edu	37	19	45805710	45805710	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:45805710G>T	uc002pbb.1	+	17	2006	c.2001G>T	c.(1999-2001)TCG>TCT	p.S667S	MARK4_uc002pba.1_3'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	667					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGACCAGCTCGCGCCCTCCTG	0.677			NA											75	83					7.25294e-45	1.1779e-44	0.01441	1	0
DHDH	27294	broad.mit.edu	37	19	49439303	49439303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:49439303G>A	uc002ple.1	+	3	257	c.217G>A	c.(217-219)GGC>AGC	p.G73S		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	73					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCCTACATTGGCACCCAGCA	0.682			NA											3	10					0	0	0.009096	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115520	52115520	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:52115520G>T	uc002pxe.2	-	9	1759	c.1620C>A	c.(1618-1620)AGC>AGA	p.S540R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	540	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCCGTGGTGCTTGGGGCCT	0.552			NA											41	46					6.5261e-18	9.11479e-18	0.00874	1	0
NLRP11	204801	broad.mit.edu	37	19	56320320	56320320	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:56320320A>G	uc010ygf.1	-	5	2367	c.1656T>C	c.(1654-1656)AAT>AAC	p.N552N	NLRP11_uc002qlz.2_Silent_p.N453N|NLRP11_uc002qmb.2_Silent_p.N453N|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	552							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTTCTTCCCGATTCTCATAGA	0.433			NA											53	66					0	0	0.01441	0	0
USP29	57663	broad.mit.edu	37	19	57640629	57640629	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:57640629A>G	uc002qny.2	+	4	942	c.586A>G	c.(586-588)AAG>GAG	p.K196E		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	196					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAAATATAAGACAGATTC	0.363			NA											48	78					0	0	0.01441	0	0
ZNF418	147686	broad.mit.edu	37	19	58438312	58438312	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:58438312G>A	uc002qqs.1	-	4	1529	c.1237C>T	c.(1237-1239)CTT>TTT	p.L413F	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.L328F	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	413	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGGTTCCTAAGGTGTCCCTTT	0.463			NA											40	112					0	0	0.010771	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470989	25470989	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:25470989C>T	uc002rgc.2	-	7	1029	c.772G>A	c.(772-774)GTG>ATG	p.V258M	DNMT3A_uc002rgd.2_Missense_Mutation_p.V258M|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.V69M	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	258	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTAGCCACAGTGGGGGAT	0.637			NA	Mis|F|N|S		AML								30	43					0	0	0.012213	0	0
GCKR	2646	broad.mit.edu	37	2	27726407	27726407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:27726407C>A	uc002rky.2	+	9	737	c.671C>A	c.(670-672)TCA>TAA	p.S224*	GCKR_uc010ezd.2_Nonsense_Mutation_p.S224*|GCKR_uc010ylu.1_Nonsense_Mutation_p.S34*	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	224	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					GACTGGAGTTCAACATTCCGA	0.493			NA											11	17					5.16669e-11	6.44298e-11	0.010729	1	0
GCKR	2646	broad.mit.edu	37	2	27726409	27726409	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:27726409A>T	uc002rky.2	+	9	739	c.673A>T	c.(673-675)ACA>TCA	p.T225S	GCKR_uc010ezd.2_Missense_Mutation_p.T225S|GCKR_uc010ylu.1_Missense_Mutation_p.T35S	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	225	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					CTGGAGTTCAACATTCCGACA	0.498			NA											11	16					0	0	0.010729	0	0
MSH2	4436	broad.mit.edu	37	2	47643558	47643558	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:47643558A>G	uc002rvy.1	+	6	1134	c.1066A>G	c.(1066-1068)ATA>GTA	p.I356V	MSH2_uc010yoh.1_Missense_Mutation_p.I290V|MSH2_uc002rvz.2_Missense_Mutation_p.I356V|MSH2_uc010fbg.2_Missense_Mutation_p.I166V	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	356					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAGAACAGAATAGAGGAGAG	0.383			NA	D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				33	59					0	0	0.013726	0	0
MEIS1	4211	broad.mit.edu	37	2	66739408	66739408	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:66739408G>C	uc002sdu.2	+	8	1327	c.870G>C	c.(868-870)TGG>TGC	p.W290C	MEIS1_uc002sdt.2_Missense_Mutation_p.W290C|MEIS1_uc002sdv.2_Missense_Mutation_p.W288C|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Missense_Mutation_p.W225C|MEIS1_uc002sdw.1_Missense_Mutation_p.W146C	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	290	Homeobox; TALE-type.						sequence-specific DNA binding transcription factor activity				0						TGAGGGCGTGGCTGTTCCAGC	0.393			NA											11	17					0	0	0.016723	0	0
REG3G	130120	broad.mit.edu	37	2	79255397	79255397	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:79255397G>C	uc002snw.2	+	6	608	c.523G>C	c.(523-525)GAC>CAC	p.D175H	REG3G_uc002snx.2_Missense_Mutation_p.D175H|REG3G_uc010ffu.2_Missense_Mutation_p.D129H	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	175					acute-phase response	extracellular region	sugar binding				0						CAAGTTCAAGGACTAGGGCAG	0.493			NA											19	31					0	0	0.007413	0	0
ASTL	431705	broad.mit.edu	37	2	96789882	96789882	+	Missense_Mutation	SNP	C	C	A	rs138508296	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:96789882C>A	uc010yui.1	-	9	1003	c.1003G>T	c.(1003-1005)GTT>TTT	p.V335F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	335					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CCTGCAGGAACGGGCTGGCCT	0.672			NA											22	33					7.41877e-09	8.90678e-09	0.012319	1	0
CHST10	9486	broad.mit.edu	37	2	101014379	101014379	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:101014379C>A	uc002tam.2	-	5	777	c.418G>T	c.(418-420)GTT>TTT	p.V140F		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	140	Lumenal (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						CCATTTAGAACAATCAGCACT	0.512			NA											14	20					0.000219431	0.000233355	0.020292	1	0
IL18RAP	8807	broad.mit.edu	37	2	103061712	103061712	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:103061712G>C	uc002tbx.2	+	9	1468	c.984G>C	c.(982-984)CAG>CAC	p.Q328H	IL18RAP_uc010fiz.2_Missense_Mutation_p.Q186H	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	328	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						AAGTCACTCAGCGTGATCTTC	0.403			NA											14	22					0	0	0.003163	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121999986	121999986	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:121999986G>T	uc002tmx.2	-	7	810	c.717C>A	c.(715-717)GCC>GCA	p.A239A	TFCP2L1_uc010flr.2_Silent_p.A239A	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	239					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					CCTTCTCTTGGGCAGTTCTTT	0.562			NA											51	110					1.83081e-24	2.76935e-24	0.01441	1	0
TTN	7273	broad.mit.edu	37	2	179403333	179403333	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179403333C>T	uc010zfg.1	-	303	91743	c.91519G>A	c.(91519-91521)GCT>ACT	p.A30507T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24202T|TTN_uc010zfi.1_Missense_Mutation_p.A24135T|TTN_uc010zfj.1_Missense_Mutation_p.A24010T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31434							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTCTCAGCAAAAACCCTG	0.418			NA											61	50					0	0	0.01441	0	0
TTN	7273	broad.mit.edu	37	2	179437609	179437610	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179437609_179437610GG>TT	uc010zfg.1	-	275	65769_65770	c.65545_65546CC>AA	c.(65545-65547)CCA>AAA	p.P21849K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P15544K|TTN_uc010zfi.1_Missense_Mutation_p.P15477K|TTN_uc010zfj.1_Missense_Mutation_p.P15352K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22776							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCTTTGGAGTTCCAGGA	0.475			NA											15	18					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179553413	179553413	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179553413G>T	uc010zfg.1	-	123	28680	c.28456C>A	c.(28456-28458)CGG>AGG	p.R9486R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.R6147R|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10413							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCGTGCCGCGTGACTTCC	0.388			NA											16	60					1.02788e-11	1.30116e-11	0.00499	1	0
TTN	7273	broad.mit.edu	37	2	179593427	179593427	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179593427G>T	uc010zfg.1	-	63	15718	c.15494C>A	c.(15493-15495)GCT>GAT	p.A5165D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1826D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6092							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTCCAGCCACAACACA	0.383			NA											17	20					1.99824e-07	2.2876e-07	0.00499	1	0
MSTN	2660	broad.mit.edu	37	2	190926980	190926980	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:190926980T>A	uc002urp.2	-	1	476	c.343A>T	c.(343-345)ACG>TCG	p.T115S		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	115					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTGTTTCCGTTGTAGCGTGA	0.438			NA											21	78					0	0	0.012319	0	0
ADAM23	8745	broad.mit.edu	37	2	207482345	207482345	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:207482345C>A	uc002vbq.2	+	26	2716	c.2493C>A	c.(2491-2493)CCC>CCA	p.P831P	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	831	Cytoplasmic (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGCAAGGCCCCATCTGAATCA	0.453	Melanoma(194;1127 2130 19620 24042 27855)		NA											9	16					3.86212e-05	4.1923e-05	0.008291	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209182591	209182591	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:209182591A>T	uc002vcz.2	+	16	2166	c.2008A>T	c.(2008-2010)ATC>TTC	p.I670F	PIKFYVE_uc010fun.1_Missense_Mutation_p.I351F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.I614F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	670					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						GTTCCATTAGATCCCAGGTGG	0.308			NA											25	95					0	0	0.01892	0	0
TRIP12	9320	broad.mit.edu	37	2	230678748	230678748	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:230678748C>A	uc002vpw.1	-	12	1790	c.1681_splice	c.e12-1	p.G561_splice	TRIP12_uc002vpx.1_Splice_Site_p.G609_splice|TRIP12_uc002vpy.1_Splice_Site_p.G264_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.G567_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCAAACCACCCTAAAATATAG	0.348			NA											18	19					3.51602e-12	4.54695e-12	0.008871	1	0
NMUR1	10316	broad.mit.edu	37	2	232392962	232392962	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:232392962C>A	uc002vry.3	-	2	880	c.770G>T	c.(769-771)CGA>CTA	p.R257L		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	257	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCGCCGCAGTCGCAGCCCAAT	0.642			NA											4	14					0.00116845	0.00121786	0.001168	1	0
CRNKL1	51340	broad.mit.edu	37	20	20018200	20018200	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:20018200C>A	uc002wrs.2	-	14	2178	c.2146G>T	c.(2146-2148)GCT>TCT	p.A716S		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	716	HAT 14.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TCAAACTGAGCAAAGCTGATC	0.318			NA											34	59					2.46105e-21	3.5681e-21	0.010818	1	0
PREX1	57580	broad.mit.edu	37	20	47256395	47256395	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:47256395C>A	uc002xtw.1	-	30	3836	c.3813G>T	c.(3811-3813)CGG>CGT	p.R1271R	PREX1_uc002xtv.1_Silent_p.R568R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1271					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATCAGGCTCCGGCCACGGA	0.557			NA											72	65					3.41413e-29	5.33777e-29	0.01441	1	0
KCNB1	3745	broad.mit.edu	37	20	47989929	47989929	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:47989929G>T	uc002xur.1	-	2	2332	c.2168C>A	c.(2167-2169)TCC>TAC	p.S723Y	KCNB1_uc002xus.1_Missense_Mutation_p.S723Y	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	723	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAGATGGAGGACTCTGGGCT	0.572			NA											28	30					1.75199e-13	2.30843e-13	0.007291	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871355	51871355	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:51871355G>T	uc002xwo.2	+	2	2314	c.1358G>T	c.(1357-1359)TGT>TTT	p.C453F		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	453					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCATCAGATTGTACAGCCTCT	0.453			NA											50	88					2.9001e-28	4.50053e-28	0.01441	1	0
COL9A3	1299	broad.mit.edu	37	20	61467557	61467557	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:61467557C>A	uc002ydm.2	+	28	1423	c.1420C>A	c.(1420-1422)CTG>ATG	p.L474M	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	474	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					TCGAGGGGAGCTGGGCCCCAA	0.711			NA											16	19					2.35188e-11	2.95041e-11	0.006122	1	0
BAGE2	85319	broad.mit.edu	37	21	11049614	11049614	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:11049614T>A	uc002yit.1	-	4	495	c.287A>T	c.(286-288)AAG>ATG	p.K96M		NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTTTGCATCTTCCTTCGCTA	0.373			NA											8	126					0	0	0.008291	0	0
GRIK1	2897	broad.mit.edu	37	21	31066378	31066378	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:31066378C>A	uc002yno.1	-	2	587	c.123G>T	c.(121-123)GGG>GGT	p.G41G	GRIK1_uc002ynn.2_Silent_p.G41G|GRIK1_uc011acs.1_Silent_p.G41G|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.G41G	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	41	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTCAAAAATCCCTCCTGCAG	0.323			NA											25	31					9.57634e-11	1.18713e-10	0.01892	1	0
IFNGR2	3460	broad.mit.edu	37	21	34793969	34793969	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:34793969C>T	uc002yrp.3	+	3	1037	c.389C>T	c.(388-390)CCT>CTT	p.P130L	IFNGR2_uc002yrq.3_Missense_Mutation_p.P149L|IFNGR2_uc010gma.2_Missense_Mutation_p.P51L|IFNGR2_uc002yrr.3_Missense_Mutation_p.P51L	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	130	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GTGACAATGCCTTGGTTTCAA	0.493			NA											38	73					0	0	0.00874	0	0
PCBP3	54039	broad.mit.edu	37	21	47333886	47333886	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:47333886A>G	uc002zhq.1	+	8	747	c.622A>G	c.(622-624)ATT>GTT	p.I208V	PCBP3_uc010gqb.2_Missense_Mutation_p.I208V|PCBP3_uc002zhp.1_Missense_Mutation_p.I208V|PCBP3_uc010gqc.1_Intron|PCBP3_uc002zhs.1_Intron|PCBP3_uc002zhr.1_Missense_Mutation_p.I208V|PCBP3_uc002zht.1_Missense_Mutation_p.I176V	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	208					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGGTGCCACCATTCCCTACCG	0.627			NA											22	36					0	0	0.021523	0	0
DIP2A	23181	broad.mit.edu	37	21	47970495	47970495	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:47970495G>T	uc002zjo.2	+	23	2860	c.2677G>T	c.(2677-2679)GCC>TCC	p.A893S	DIP2A_uc011afy.1_Missense_Mutation_p.A829S|DIP2A_uc011afz.1_Missense_Mutation_p.A889S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	893					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTACTGTCTGGCCCTGGTTCC	0.577			NA											13	22					1.5842e-08	1.8804e-08	0.016723	1	0
GAB4	128954	broad.mit.edu	37	22	17488963	17488963	+	Silent	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:17488963T>G	uc002zlw.2	-	1	150	c.42A>C	c.(40-42)CCA>CCC	p.P14P	GAB4_uc010gqs.1_Silent_p.P14P	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	14										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCGGGTCAGGTGGGCACAGCT	0.682			NA											8	4					0	0	0.006214	0	0
NAGA	4668	broad.mit.edu	37	22	42456311	42456311	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:42456311A>G	uc003bbx.2	-	10	1345	c.1208T>C	c.(1207-1209)ATC>ACC	p.I403T	NAGA_uc003bby.2_Missense_Mutation_p.I403T|NAGA_uc003bbw.3_Missense_Mutation_p.I403T	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	403					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						CAGGTTCTTGATGGGATACAG	0.552			NA											43	88					0	0	0.009718	0	0
PTH1R	5745	broad.mit.edu	37	3	46944143	46944143	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:46944143T>C	uc003cqm.2	+	14	1542	c.1339T>C	c.(1339-1341)TTC>CTC	p.F447L	PTH1R_uc003cqn.2_Missense_Mutation_p.F447L	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	447	Helical; Name=7; (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						TGAGATGCTCTTCAACTCCTT	0.602			NA							Ollier_disease_/_Maffucsyndrome				20	3					0	0	0.007413	0	0
GNAT1	2779	broad.mit.edu	37	3	50230772	50230772	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:50230772A>G	uc003cym.2	+	3	340	c.224A>G	c.(223-225)CAG>CGG	p.Q75R	GNAT1_uc003cyl.2_Missense_Mutation_p.Q75R	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	75					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)		AACACGTTGCAGTCCATCCTG	0.602			NA											20	6					0	0	0.008871	0	0
FLNB	2317	broad.mit.edu	37	3	58111327	58111327	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:58111327G>C	uc003djj.2	+	23	4083	c.3918G>C	c.(3916-3918)GTG>GTC	p.V1306V	FLNB_uc010hne.2_Silent_p.V1306V|FLNB_uc003djk.2_Silent_p.V1306V|FLNB_uc010hnf.2_Silent_p.V1306V|FLNB_uc003djl.2_Silent_p.V1137V|FLNB_uc003djm.2_Silent_p.V1137V	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1306	Filamin 11.|Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TAGTGGAGGTGACATATGATG	0.458			NA											3	47					0	0	0.004672	0	0
CRYBG3	131544	broad.mit.edu	37	3	97605504	97605504	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:97605504C>A	uc003drx.2	+	5	1402	c.1338C>A	c.(1336-1338)TTC>TTA	p.F446L		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TAGAGCTTTTCCCACAATCTG	0.418			NA											33	231					1.36615e-20	1.96706e-20	0.013726	1	0
GAP43	2596	broad.mit.edu	37	3	115395236	115395236	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:115395236G>C	uc003ebq.2	+	2	793	c.407G>C	c.(406-408)GGC>GCC	p.G136A	GAP43_uc003ebr.2_Missense_Mutation_p.G172A	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)		GAGAAGGCCGGCTCAGCTGAG	0.582			NA											12	28					0	0	0.016723	0	0
POLQ	10721	broad.mit.edu	37	3	121208549	121208549	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:121208549G>C	uc003eee.3	-	16	3358	c.3229C>G	c.(3229-3231)CTT>GTT	p.L1077V	POLQ_uc003eed.2_Missense_Mutation_p.L249V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1077					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCTTCACAAAGACTAGGATTA	0.408	Pancreas(152;907 1925 26081 31236 36904)		NA						DNA_polymerases_(catalytic_subunits)					126	63					0	0	0.01441	0	0
CCDC14	64770	broad.mit.edu	37	3	123663717	123663717	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:123663717C>G	uc011bjx.1	-	9	1557	c.1466G>C	c.(1465-1467)AGT>ACT	p.S489T	CCDC14_uc003egv.3_Missense_Mutation_p.S130T|CCDC14_uc003egx.3_Missense_Mutation_p.S289T|CCDC14_uc010hrt.2_Missense_Mutation_p.S448T|CCDC14_uc003egy.3_Missense_Mutation_p.S289T|CCDC14_uc003egz.2_Missense_Mutation_p.S289T	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	489	Potential.					centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGCATTCTCACTTCTTAATGG	0.388			NA											9	48					0	0	0.006214	0	0
HEG1	57493	broad.mit.edu	37	3	124746194	124746194	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:124746194C>A	uc003ehs.3	-	3	836	c.768G>T	c.(766-768)TCG>TCT	p.S256S	HEG1_uc011bke.1_Silent_p.S256S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	256	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCTCCAAGCCGAAGTGGTGG	0.542			NA											12	40					0.00010058	0.000108059	0.013537	1	0
PIK3R4	30849	broad.mit.edu	37	3	130452634	130452634	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130452634A>C	uc003enj.2	-	4	1789	c.1208T>G	c.(1207-1209)CTT>CGT	p.L403R		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	403					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AGCCAAATGAAGAATCAGTTC	0.403			NA											5	260					0	0	0.014758	0	0
ATP2C1	27032	broad.mit.edu	37	3	130735084	130735084	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130735084G>T	uc011bli.1	+	28	3135	c.2915G>T	c.(2914-2916)TGT>TTT	p.C972F	ATP2C1_uc011blh.1_Missense_Mutation_p.C943F|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Missense_Mutation_p.C922F|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Missense_Mutation_p.C948F|ATP2C1_uc003ent.2_Missense_Mutation_p.C938F|ASTE1_uc010htm.1_Missense_Mutation_p.T538K|ASTE1_uc003env.1_Missense_Mutation_p.T538K|ASTE1_uc011blj.1_RNA	NM_001001487	NP_001001487	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1b	Error:Variant_position_missing_in_P98194_after_alignment					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GATGTGAGCTGTGTCTAAGTC	0.527	Esophageal Squamous(99;456 1443 27647 34099 42636)		NA							Hailey-Hailey_disease				34	99					9.17885e-22	1.34005e-21	0.015359	1	0
PRR23A	729627	broad.mit.edu	37	3	138724422	138724423	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:138724422_138724423GG>TT	uc011bms.1	-	1	688_689	c.688_689CC>AA	c.(688-690)CCT>AAT	p.P230N		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	proline rich 23A	230	Pro-rich.										0						AGGTTGGAGAGGTGAGCTGGGG	0.673			NA											4	10					0	0	0.004672	0	0
SLC9A9	285195	broad.mit.edu	37	3	143214238	143214238	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:143214238C>A	uc003evn.2	-	10	1324	c.1142G>T	c.(1141-1143)GGC>GTC	p.G381V		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	381	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CAGTGCCAGGCCCATGTAACA	0.353			NA											38	108					2.47872e-24	3.73592e-24	0.010771	1	0
ZIC4	84107	broad.mit.edu	37	3	147108869	147108869	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:147108869T>C	uc003ewd.1	-	4	1126	c.853A>G	c.(853-855)ATG>GTG	p.M285V	ZIC4_uc003ewc.1_Missense_Mutation_p.M215V|ZIC4_uc011bno.1_Missense_Mutation_p.M335V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	285	C2H2-type 5.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TGCACCTTCATGTGCTTACGC	0.637			NA											14	55					0	0	0.004007	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183295	167183295	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:167183295C>T	uc003fer.1	-	3	703	c.645G>A	c.(643-645)ATG>ATA	p.M215I	SERPINI2_uc003fes.1_Missense_Mutation_p.M225I|SERPINI2_uc003fet.1_Missense_Mutation_p.M215I	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	215					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						GAGCCTTCATCATTGGAATTT	0.318			NA											80	51					0	0	0.01441	0	0
SEC62	7095	broad.mit.edu	37	3	169710594	169710594	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:169710594A>C	uc003fgg.2	+	8	974	c.943A>C	c.(943-945)AGT>CGT	p.S315R	SEC62_uc003fgh.2_Missense_Mutation_p.S315R	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	315	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						AAAGTCAGACAGTGAGAAAAA	0.463			NA											20	47					0	0	0.008871	0	0
NLGN1	22871	broad.mit.edu	37	3	173993224	173993224	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:173993224A>T	uc003fio.1	+	5	1189	c.766A>T	c.(766-768)ACT>TCT	p.T256S	NLGN1_uc010hww.1_Missense_Mutation_p.T296S|NLGN1_uc003fip.1_Missense_Mutation_p.T256S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	273	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTAAGAATCACTGTTTTTGG	0.428			NA											43	111					0	0	0.013114	0	0
DGKG	1608	broad.mit.edu	37	3	186015996	186015996	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:186015996T>A	uc003fqa.2	-	4	704	c.167A>T	c.(166-168)AAG>ATG	p.K56M	DGKG_uc003fqb.2_Missense_Mutation_p.K56M|DGKG_uc003fqc.2_Missense_Mutation_p.K56M|DGKG_uc011brx.1_Missense_Mutation_p.K56M	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	56					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CATGAACAGCTTGAAGACATC	0.353			NA											11	66					0	0	0.008291	0	0
AHSG	197	broad.mit.edu	37	3	186338396	186338396	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:186338396C>G	uc003fqk.3	+	7	862	c.781C>G	c.(781-783)CCA>GCA	p.P261A	AHSG_uc003fql.3_Missense_Mutation_p.P262A|AHSG_uc003fqm.3_Missense_Mutation_p.P260A|AHSG_uc010hyp.2_Missense_Mutation_p.P224A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	261					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		ACAGCCCCAACCAGAAGGTGC	0.612			NA											14	87					0	0	0.007291	0	0
PYDC2	152138	broad.mit.edu	37	3	191179085	191179085	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:191179085C>G	uc011bso.1	+	1	134	c.134C>G	c.(133-135)ACA>AGA	p.T45R		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	45	DAPIN.					cytoplasm|nucleus					0						GTCCCCCAGACAGAGGTAGAC	0.532			NA											69	42					0	0	0.01441	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:195400728A>G	uc003fuw.2	+	9	1218	c.24A>G	c.(22-24)CCA>CCG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0						GATTGTGCCCAGCCTGTACGC	0.587			NA											3	28					0	0	0.009096	0	0
FAM193A	8603	broad.mit.edu	37	4	2674026	2674026	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:2674026A>C	uc010icl.2	+	11	1736	c.1385A>C	c.(1384-1386)CAC>CCC	p.H462P	FAM193A_uc010ick.2_Missense_Mutation_p.H662P|FAM193A_uc003gfd.2_Missense_Mutation_p.H462P|FAM193A_uc011bvm.1_Missense_Mutation_p.H484P|FAM193A_uc011bvn.1_Missense_Mutation_p.H462P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.H316P	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	462										ovary(3)	3						GTGCCTTTGCACACTGTTCCA	0.567			NA											21	25					0	0	0.012319	0	0
EVC	2121	broad.mit.edu	37	4	5754652	5754652	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:5754652G>T	uc003gil.1	+	9	1372	c.1188G>T	c.(1186-1188)CGG>CGT	p.R396R	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	396					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCAGGTGCCGGCTGGCTGCCA	0.627			NA											20	19					2.94398e-08	3.45526e-08	0.007413	1	0
CRMP1	1400	broad.mit.edu	37	4	5837732	5837732	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:5837732C>T	uc003gip.2	-	12	1292	c.1191G>A	c.(1189-1191)AGG>AGA	p.R397R	CRMP1_uc003gin.1_Silent_p.R309R|CRMP1_uc003giq.2_Silent_p.R397R|CRMP1_uc003gir.2_Silent_p.R392R|CRMP1_uc003gis.2_Silent_p.R511R	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	397					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		TCCGCCCTTTCCTTGGGTACA	0.532			NA											44	77					0	0	0.011902	0	0
TBC1D19	55296	broad.mit.edu	37	4	26744202	26744202	+	Nonsense_Mutation	SNP	C	C	T	rs141345574		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:26744202C>T	uc003gsf.3	+	18	1570	c.1300C>T	c.(1300-1302)CGA>TGA	p.R434*	TBC1D19_uc010iew.2_Nonsense_Mutation_p.R434*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.R369*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	434	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R434*(1)		breast(1)	1		Breast(46;0.0503)				TTATCATCTACGAGAAATTGG	0.373			NA											41	45					0	0	0.01441	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181643	57181643	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:57181643C>A	uc003hbk.2	+	8	2366	c.1975C>A	c.(1975-1977)CCC>ACC	p.P659T	KIAA1211_uc010iha.2_Missense_Mutation_p.P652T|KIAA1211_uc011bzz.1_Missense_Mutation_p.P569T|KIAA1211_uc003hbm.1_Missense_Mutation_p.P545T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	659										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCAGGAGTCTCCCAGCAGCGC	0.677			NA											16	21					2.31682e-05	2.53459e-05	0.003163	1	0
CXCL6	6372	broad.mit.edu	37	4	74702948	74702948	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:74702948T>G	uc003hhf.2	+	3	466	c.271T>G	c.(271-273)TGT>GGT	p.C91G	IL8_uc011cbh.1_Intron	NM_002993	NP_002984	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6 (granulocyte	91					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAGCAAGTTTGTCTGGACCC	0.453			NA											37	30					0	0	0.00623	0	0
HSD17B13	345275	broad.mit.edu	37	4	88239557	88239557	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:88239557C>T	uc003hqo.2	-	2	305	c.242G>A	c.(241-243)CGA>CAA	p.R81Q	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	81						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GCCTAGTTTTCGGCACTCAGC	0.443			NA											3	55					0	0	0.004672	0	0
PDHA2	5161	broad.mit.edu	37	4	96761509	96761509	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:96761509C>A	uc003htr.3	+	1	271	c.208C>A	c.(208-210)CGC>AGC	p.R70S		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	70					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCTGACTGTTCGCCGCATGGA	0.493			NA											21	19					8.34094e-07	9.39476e-07	0.008871	1	0
ANK2	287	broad.mit.edu	37	4	114280096	114280096	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:114280096G>A	uc003ibe.3	+	38	10422	c.10322G>A	c.(10321-10323)CGA>CAA	p.R3441Q	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R743Q|ANK2_uc011cgb.1_Missense_Mutation_p.R3456Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3408					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTACATCCCGATTGCCAGTT	0.478			NA											6	32					0	0	0.001168	0	0
EXOSC9	5393	broad.mit.edu	37	4	122734443	122734443	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:122734443A>T	uc003iea.2	+	9	990	c.882A>T	c.(880-882)ACA>ACT	p.T294T	EXOSC9_uc003idz.2_Silent_p.T294T|EXOSC9_uc003ieb.2_Silent_p.T278T|EXOSC9_uc010inp.1_Intron	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	294					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						AAAGGATCACAGCATTTAAAA	0.418			NA											43	37					0	0	0.006999	0	0
KIAA1109	84162	broad.mit.edu	37	4	123271219	123271219	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:123271219A>T	uc003ieh.2	+	78	13884	c.13839A>T	c.(13837-13839)TCA>TCT	p.S4613S	KIAA1109_uc003iem.2_Silent_p.S969S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4613					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAAAAAGTTCACAAGAACAAT	0.333			NA											36	27					0	0	0.015359	0	0
TDO2	6999	broad.mit.edu	37	4	156831336	156831336	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:156831336G>C	uc003ipf.1	+	6	655	c.591G>C	c.(589-591)CAG>CAC	p.Q197H		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AATCTGAGCAGGAAAAGACAC	0.323	Colon(57;928 1036 2595 6946 26094)		NA											10	76					0	0	0.006214	0	0
PALLD	23022	broad.mit.edu	37	4	169842780	169842780	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:169842780G>T	uc011cjx.1	+	18	3157	c.2946G>T	c.(2944-2946)GGG>GGT	p.G982G	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.G965G|PALLD_uc003irv.2_Silent_p.G583G|PALLD_uc003irw.2_Silent_p.G467G|PALLD_uc003irx.2_Silent_p.G191G	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	1189	Ig-like C2-type 4.|Interaction with EZR.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTGAGAACGGGGTGCACTCTC	0.537	Esophageal Squamous(109;1482 1532 18347 40239 51172)		NA							Pancreatic_Cancer_Familial_Clustering_of				13	14					2.27111e-07	2.58586e-07	0.013537	1	0
IRX2	153572	broad.mit.edu	37	5	2749032	2749032	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:2749032C>G	uc003jda.2	-	3	1032	c.790G>C	c.(790-792)GAG>CAG	p.E264Q	IRX2_uc003jdb.2_Missense_Mutation_p.E264Q	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		TCGTCGTCCTCCAGGTCGTCA	0.706			NA											19	9					0	0	0.008871	0	0
CDH18	1016	broad.mit.edu	37	5	19747077	19747077	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:19747077A>G	uc003jgc.2	-	3	874	c.497T>C	c.(496-498)GTT>GCT	p.V166A	CDH18_uc003jgd.2_Missense_Mutation_p.V166A|CDH18_uc011cnm.1_Missense_Mutation_p.V166A	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	166	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCACAGTAACAATGTATGG	0.343			NA											119	57					0	0	0.01441	0	0
CDH9	1007	broad.mit.edu	37	5	26916033	26916033	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:26916033C>A	uc003jgs.1	-	3	398	c.229_splice	c.e3-1	p.L77_splice	CDH9_uc010iug.2_Splice_Site_p.L77_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CAGTGTGAAGCTTTAGAGAGG	0.343	Melanoma(8;187 585 15745 40864 52829)		NA											35	113					2.42023e-17	3.36903e-17	0.015359	1	0
RICTOR	253260	broad.mit.edu	37	5	39021212	39021212	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:39021212G>A	uc003jlp.2	-	3	148	c.124C>T	c.(124-126)CTC>TTC	p.L42F	RICTOR_uc003jlo.2_Missense_Mutation_p.L42F|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.L26F|RICTOR_uc011cpk.1_Missense_Mutation_p.L42F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	42					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					ACATTTTGGAGAATCTCTCTT	0.323			NA											46	186					0	0	0.01441	0	0
C6	729	broad.mit.edu	37	5	41142976	41142976	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:41142976C>A	uc003jmk.2	-	18	2966	c.2756G>T	c.(2755-2757)TGT>TTT	p.C919F	C6_uc003jml.1_Missense_Mutation_p.C919F	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	919	Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTGTTTGCACATCTTATAGT	0.433			NA											117	68					5.16181e-52	8.48156e-52	0.01441	1	0
PARP8	79668	broad.mit.edu	37	5	50056133	50056133	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:50056133A>T	uc003jon.3	+	6	464	c.282A>T	c.(280-282)AGA>AGT	p.R94S	PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Missense_Mutation_p.R94S|PARP8_uc003jop.2_Missense_Mutation_p.R94S	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	94						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				CAGAATTAAGAAAAACAAATG	0.249			NA											7	5					0	0	0.001984	0	0
FOXD1	2297	broad.mit.edu	37	5	72743820	72743820	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:72743820A>T	uc003kcp.2	-	1	533	c.368T>A	c.(367-369)CTG>CAG	p.L123Q		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	123					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		CGGCTTCACCAGCGGGTTCTT	0.398			NA											5	10					0	0	0.014758	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388641	80388641	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:80388641C>T	uc003kha.1	+	10	1412	c.1412C>T	c.(1411-1413)TCC>TTC	p.S471F	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	471	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAAGTACCTTCCGTTGAGAGG	0.373			NA											41	69					0	0	0.007835	0	0
XRCC4	7518	broad.mit.edu	37	5	82491599	82491599	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:82491599G>T	uc003kib.2	+	4	454	c.326G>T	c.(325-327)GGT>GTT	p.G109V	XRCC4_uc003kia.1_Missense_Mutation_p.G109V|XRCC4_uc003kid.2_Missense_Mutation_p.G109V|XRCC4_uc003kic.2_Missense_Mutation_p.G109V|XRCC4_uc003kie.2_Missense_Mutation_p.G109V|XRCC4_uc003kif.1_Missense_Mutation_p.G109V	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	109					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTCAGACTTGGTTCCTTCAAC	0.343			NA						NHEJ					21	28					1.55795e-14	2.09897e-14	0.012319	1	0
HAPLN1	1404	broad.mit.edu	37	5	82937473	82937474	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:82937473_82937474GG>TT	uc003kim.2	-	4	977_978	c.906_907CC>AA	c.(904-909)GACCGC>GAAAGC	p.302_303DR>ES	HAPLN1_uc003kin.2_Missense_Mutation_p.302_303DR>ES	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	302_303	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCATCACAGCGGTCATATCCGA	0.554			NA											53	80					0	0	0.004672	0	0
CATSPER3	347732	broad.mit.edu	37	5	134346177	134346177	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:134346177A>T	uc003lag.2	+	7	1119	c.1051A>T	c.(1051-1053)ATC>TTC	p.I351F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	351					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCATCGATATCTACTTTTC	0.512			NA											14	37					0	0	0.003163	0	0
KIF20A	10112	broad.mit.edu	37	5	137515415	137515415	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:137515415G>T	uc003lcj.2	+	2	542	c.46G>T	c.(46-48)GAC>TAC	p.D16Y	BRD8_uc003lcc.1_5'Flank|BRD8_uc003lcf.1_5'Flank|BRD8_uc003lcg.2_5'Flank|BRD8_uc003lci.2_5'Flank|BRD8_uc003lch.2_5'Flank|BRD8_uc011cym.1_5'Flank|BRD8_uc010jer.1_5'Flank|BRD8_uc011cyn.1_5'Flank|BRD8_uc010jes.1_5'Flank|KIF20A_uc011cyo.1_Missense_Mutation_p.D16Y	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	16					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGTCCGATGACGATGTCGT	0.542			NA											5	58					1.024e-07	1.18852e-07	0.014758	1	0
CXXC5	51523	broad.mit.edu	37	5	139060145	139060146	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:139060145_139060146GG>TT	uc010jfg.1	+	2	327_328	c.37_38GG>TT	c.(37-39)GGC>TTC	p.G13F	CXXC5_uc003let.2_Missense_Mutation_p.G13F	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	13					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCCGgcggcagtagcagc	0.525			NA											4	3					0	0	0.004672	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256399	140256399	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140256399G>A	uc003lic.2	+	1	1469	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V448M	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	448	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.657	Pancreas(113;759 1672 13322 24104 50104)		NA											19	78					0	0	0.008871	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475631	140475631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140475631C>A	uc003lil.2	+	1	1395	c.1257C>A	c.(1255-1257)TAC>TAA	p.Y419*	PCDHB2_uc003lim.1_Nonsense_Mutation_p.Y80*	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	419	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCCGAATACAACATCACCA	0.522			NA											25	38					4.26978e-12	5.47106e-12	0.01892	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480379	140480379	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140480379C>T	uc003lio.2	+	1	146	c.146C>T	c.(145-147)GCA>GTA	p.A49V	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	49	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAACCTAGCAAAGGATCTG	0.507			NA											25	23					0	0	0.01892	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140559000G>C	uc011dai.1	+	1	1571	c.1385G>C	c.(1384-1386)CGC>CCC	p.R462P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	462	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627			NA											41	204					0	0	0.01441	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744879	140744879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140744879G>T	uc003lju.1	+	1	982	c.982G>T	c.(982-984)GTT>TTT	p.V328F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V328F	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	328	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGCTCTTGTTGCCAGCGC	0.502			NA											18	30					2.94398e-08	3.45526e-08	0.007413	1	0
LARS	51520	broad.mit.edu	37	5	145523006	145523006	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:145523006G>A	uc003lnx.1	-	19	2084	c.1846C>T	c.(1846-1848)CAT>TAT	p.H616Y	LARS_uc011dbq.1_Missense_Mutation_p.H570Y|LARS_uc011dbr.1_Missense_Mutation_p.H562Y|LARS_uc011dbs.1_Missense_Mutation_p.H589Y	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	616					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GCCTGTCCATGCAAGTTACCC	0.433			NA											72	123					0	0	0.01441	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270801	154270801	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:154270801C>A	uc003lvx.3	-	26	4345	c.4262G>T	c.(4261-4263)TGT>TTT	p.C1421F	GEMIN5_uc011ddk.1_Missense_Mutation_p.C1420F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1421					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTACTTACCACTGGCTCTG	0.343			NA											44	60					6.07928e-31	9.61214e-31	0.009718	1	0
HK3	3101	broad.mit.edu	37	5	176314548	176314549	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:176314548_176314549CC>AA	uc003mfa.2	-	11	1595_1596	c.1503_1504GG>TT	c.(1501-1506)CAGGCA>CATTCA	p.501_502QA>HS	HK3_uc003mez.2_Missense_Mutation_p.57_58QA>HS	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	501_502	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCATCTGTGCCTGAACCGCAG	0.673			NA											20	28					0	0	0.004672	0	0
FLT4	2324	broad.mit.edu	37	5	180047710	180047710	+	Nonsense_Mutation	SNP	C	C	A	rs144822344		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:180047710C>A	uc003mma.3	-	16	2384	c.2305G>T	c.(2305-2307)GAG>TAG	p.E769*	FLT4_uc003mlz.3_Nonsense_Mutation_p.E769*|FLT4_uc003mmb.1_Nonsense_Mutation_p.E302*	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	769	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTTATCCTCGGAGCCTGCG	0.597	Colon(97;1075 1466 27033 27547 35871)		NA							Congenital_Hereditary_Lymphedema				18	10					3.32936e-07	3.77027e-07	0.006122	1	0
OR2V2	285659	broad.mit.edu	37	5	180581967	180581967	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:180581967T>A	uc011dhj.1	+	1	25	c.25T>A	c.(25-27)TAC>AAC	p.Y9N		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACCAGTCCTACACAGATGG	0.507			NA											46	58					0	0	0.01441	0	0
GPLD1	2822	broad.mit.edu	37	6	24447133	24447133	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:24447133G>A	uc003ned.1	-	18	1864	c.1753C>T	c.(1753-1755)CAC>TAC	p.H585Y		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	585	FG-GAP 4.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						GTGACACCGTGAAGGGAATAT	0.522			NA											31	32					0	0	0.010818	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533937	24533937	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:24533937G>T	uc003neg.2	+	10	1633	c.1605G>T	c.(1603-1605)TTG>TTT	p.L535F	ALDH5A1_uc003nef.2_Missense_Mutation_p.L548F	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	535					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	ACGGGGGCTTGTAGGATTCTT	0.398			NA											22	45					6.44725e-10	7.92199e-10	0.014323	1	0
BTN1A1	696	broad.mit.edu	37	6	26509112	26509112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:26509112G>T	uc003nif.3	+	7	1311	c.1291G>T	c.(1291-1293)GGA>TGA	p.G431*		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	431	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CTATGAATCAGGAGACATCTC	0.522			NA											18	25					9.16793e-09	1.09753e-08	0.00499	1	0
GPX5	2880	broad.mit.edu	37	6	28501899	28501899	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:28501899C>T	uc003nll.2	+	5	623	c.621C>T	c.(619-621)GTC>GTT	p.V207V	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_RNA	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	207					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	TCAGCTCAGTCAAGACAGACA	0.507			NA											25	16					0	0	0.021523	0	0
OR12D2	26529	broad.mit.edu	37	6	29364862	29364862	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:29364862G>T	uc003nmf.3	+	1	447	c.386G>T	c.(385-387)CGC>CTC	p.R129L		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGCCACTTCGCTACACTGTC	0.512			NA											15	35					4.3181e-19	6.09186e-19	0.013726	1	0
GABBR1	2550	broad.mit.edu	37	6	29595311	29595311	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:29595311C>A	uc003nmt.3	-	6	945	c.609G>T	c.(607-609)AGG>AGT	p.R203S	GABBR1_uc003nmp.3_Missense_Mutation_p.R86S|GABBR1_uc003nms.3_Missense_Mutation_p.R86S|GABBR1_uc003nmu.3_Missense_Mutation_p.R141S|GABBR1_uc011dlr.1_Missense_Mutation_p.R26S|GABBR1_uc011dls.1_Missense_Mutation_p.R203S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	203	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GCAGGATGTCCCTGCGGCTAT	0.677			NA											3	7					0.00909568	0.00934091	0.009096	1	0
GRM4	2914	broad.mit.edu	37	6	34003675	34003675	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:34003675G>A	uc003oir.3	-	8	2382	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	GRM4_uc011dsn.1_Missense_Mutation_p.R691C|GRM4_uc010jvh.2_Missense_Mutation_p.R738C|GRM4_uc010jvi.2_Missense_Mutation_p.R430C|GRM4_uc003oio.2_Missense_Mutation_p.R430C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R598C|GRM4_uc003oiq.2_Missense_Mutation_p.R605C|GRM4_uc011dsm.1_Missense_Mutation_p.R569C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	738	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CTGGCGAAGCGGGGGTCGAGT	0.622			NA											18	29					0	0	0.007413	0	0
C6orf81	221481	broad.mit.edu	37	6	35715159	35715160	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:35715159_35715160GG>TT	uc003ola.2	+	4	674_675	c.647_648GG>TT	c.(646-648)CGG>CTT	p.R216L	C6orf81_uc003olb.1_Missense_Mutation_p.R189L	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	189	ARM 2.						binding			ovary(1)	1						CAGCTGCGACGGGTGATGCCTG	0.589			NA											12	31					0	0	0.004672	0	0
GUCA1B	2979	broad.mit.edu	37	6	42162358	42162358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:42162358C>A	uc003orz.2	-	1	337	c.201G>T	c.(199-201)AAG>AAT	p.K67N		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	67	1 (Potential).|EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTACCCCATTCTTGTCGAAGG	0.537			NA											25	22					1.75199e-13	2.30843e-13	0.007291	1	0
GFRAL	389400	broad.mit.edu	37	6	55216094	55216094	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:55216094T>C	uc003pcm.1	+	5	500	c.414T>C	c.(412-414)TGT>TGC	p.C138C		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	138	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGAGGCATGTGTAGGGGATG	0.468			NA											75	108					0	0	0.01441	0	0
COL21A1	81578	broad.mit.edu	37	6	55924964	55924964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:55924964G>T	uc003pcs.2	-	28	2692	c.2460C>A	c.(2458-2460)TGC>TGA	p.C820*	COL21A1_uc010jzz.2_Nonsense_Mutation_p.C205*|COL21A1_uc011dxg.1_Nonsense_Mutation_p.C193*|COL21A1_uc011dxh.1_Intron|COL21A1_uc003pcr.2_Nonsense_Mutation_p.C177*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	820					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTGGGACAGGCAATGATCAC	0.493			NA											13	18					1.5842e-08	1.8804e-08	0.016723	1	0
BAI3	577	broad.mit.edu	37	6	70092758	70092758	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:70092758A>G	uc003pev.3	+	31	4759	c.4311A>G	c.(4309-4311)CTA>CTG	p.L1437L	BAI3_uc010kak.2_Silent_p.L1437L|BAI3_uc011dxx.1_Silent_p.L643L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1437	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATATGGAACTATTTCAAGAAC	0.363			NA											16	21					0	0	0.006122	0	0
COL19A1	1310	broad.mit.edu	37	6	70916968	70916968	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:70916968G>A	uc003pfc.1	+	51	3536	c.3419G>A	c.(3418-3420)GGT>GAT	p.G1140D		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1140				G -> C (in Ref. 2; BAA23309).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						CAGCGCACAGGTGGGAATTGA	0.542			NA											84	101					0	0	0.01441	0	0
COL9A1	1297	broad.mit.edu	37	6	71004158	71004158	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:71004158G>C	uc003pfg.3	-	5	567	c.408C>G	c.(406-408)TCC>TCG	p.S136S		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	136	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCTTCCCAGAGGAATCCTGAA	0.438			NA											108	126					0	0	0.01441	0	0
RIMS1	22999	broad.mit.edu	37	6	73102459	73102459	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:73102459G>T	uc003pga.2	+	31	4642	c.4565G>T	c.(4564-4566)GGA>GTA	p.G1522V	RIMS1_uc011dyb.1_Missense_Mutation_p.G919V|RIMS1_uc003pgc.2_Missense_Mutation_p.G971V|RIMS1_uc010kaq.2_Missense_Mutation_p.G842V|RIMS1_uc011dyc.1_Missense_Mutation_p.G647V|RIMS1_uc010kar.2_Missense_Mutation_p.G590V|RIMS1_uc011dyd.1_Missense_Mutation_p.G656V|RIMS1_uc003pgf.2_Missense_Mutation_p.G522V|RIMS1_uc003pgg.2_Missense_Mutation_p.G418V|RIMS1_uc003pgi.2_Missense_Mutation_p.G338V|RIMS1_uc003pgh.2_Missense_Mutation_p.G389V|RIMS1_uc003pgd.2_Missense_Mutation_p.G588V|RIMS1_uc003pge.2_Missense_Mutation_p.G562V|RIMS1_uc011dye.1_Missense_Mutation_p.G328V|RIMS1_uc011dyf.1_Missense_Mutation_p.G146V|RIMS1_uc011dyg.1_Missense_Mutation_p.G49V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1522					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCTTGATGGATTGGGACCA	0.408			NA											30	52					4.65686e-17	6.46101e-17	0.017118	1	0
CD109	135228	broad.mit.edu	37	6	74528210	74528210	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:74528210G>T	uc003php.2	+	31	4436	c.4011G>T	c.(4009-4011)GTG>GTT	p.V1337V	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.V1320V|CD109_uc010kba.2_Silent_p.V1260V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	1337						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GCGAGACAGTGAAGAAAGTGG	0.403			NA											17	23					1.02788e-11	1.30116e-11	0.00499	1	0
SIM1	6492	broad.mit.edu	37	6	100838768	100838768	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:100838768G>C	uc003pqj.3	-	11	1977	c.1770C>G	c.(1768-1770)GAC>GAG	p.D590E	SIM1_uc010kcu.2_Missense_Mutation_p.D590E	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	590	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAGCCAGTTGGTCTGAGGGGG	0.473			NA											39	25					0	0	0.021022	0	0
BVES	11149	broad.mit.edu	37	6	105549026	105549026	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:105549026C>G	uc003pqw.2	-	8	1178	c.1021G>C	c.(1021-1023)GAT>CAT	p.D341H	BVES_uc003pqx.2_Missense_Mutation_p.D341H|BVES_uc003pqy.2_Missense_Mutation_p.D341H	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	341	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCATCATCATCTTCTGCTCCT	0.473			NA											31	38					0	0	0.008361	0	0
FIG4	9896	broad.mit.edu	37	6	110086283	110086283	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:110086283G>A	uc003ptt.2	+	14	1717	c.1502G>A	c.(1501-1503)GGA>GAA	p.G501E	FIG4_uc011eau.1_Missense_Mutation_p.G224E	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	501	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTTATGGTGGGAAAATGTGCT	0.398			NA											42	81					0	0	0.007835	0	0
LAMA4	3910	broad.mit.edu	37	6	112513053	112513053	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:112513053C>A	uc003pvu.2	-	6	813	c.504_splice	c.e6-1	p.R168_splice	LAMA4_uc003pvv.2_Splice_Site_p.R168_splice|LAMA4_uc003pvt.2_Splice_Site_p.R168_splice	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGAGCACATCTGAAGAGGAA	0.338			NA											12	21					0.000151284	0.000162118	0.016723	1	0
RSPO3	84870	broad.mit.edu	37	6	127440428	127440428	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:127440428C>A	uc003qar.2	+	1	381	c.91C>A	c.(91-93)CGA>AGA	p.R31R	uc003qaq.1_Intron|RSPO3_uc003qas.1_Silent_p.R31R	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	31						extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		AAGGCGCCAGCGAAGAAGTAA	0.552			NA											27	35					1.17739e-12	1.53207e-12	0.005443	1	0
EYA4	2070	broad.mit.edu	37	6	133849905	133849905	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:133849905C>A	uc003qec.3	+	20	2340	c.1882C>A	c.(1882-1884)CTG>ATG	p.L628M	EYA4_uc011ecq.1_Missense_Mutation_p.L574M|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.L628M|EYA4_uc003qee.3_Missense_Mutation_p.L605M|EYA4_uc011ecs.1_Missense_Mutation_p.L634M|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	628					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCAGACCTCCTGGCTCTCCA	0.323	Melanoma(57;398 1237 3528 4702 7415)		NA											109	97					1.38406e-41	2.23907e-41	0.01441	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151247409	151247409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:151247409G>T	uc003qob.2	+	11	1502	c.1234G>T	c.(1234-1236)GGA>TGA	p.G412*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.G413*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.G360*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	412	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TCAAGCAGATGGAAAATACGT	0.393			NA											47	47					4.18559e-23	6.28588e-23	0.01441	1	0
PLG	5340	broad.mit.edu	37	6	161134032	161134032	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:161134032C>A	uc003qtm.3	+	5	485	c.422C>A	c.(421-423)ACA>AAA	p.T141K		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	141	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCACCTGCTACACACCCCTCA	0.483			NA											56	52					2.30037e-20	3.2896e-20	0.01441	1	0
ETV1	2115	broad.mit.edu	37	7	13971234	13971234	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:13971234T>A	uc011jxq.1	-	9	1434	c.695A>T	c.(694-696)CAC>CTC	p.H232L	ETV1_uc011jxn.1_Missense_Mutation_p.H192L|ETV1_uc011jxo.1_Missense_Mutation_p.H129L|ETV1_uc011jxp.1_Missense_Mutation_p.H174L|ETV1_uc003ssw.3_Missense_Mutation_p.H232L|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.H214L|ETV1_uc011jxs.1_Missense_Mutation_p.H214L|ETV1_uc010ktv.2_Missense_Mutation_p.H101L	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	232					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						CACTGGGTCGTGGTACTCCTG	0.522			NA	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								16	12					0	0	0.006122	0	0
C7orf69	80099	broad.mit.edu	37	7	47859104	47859104	+	Splice_Site	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:47859104G>A	uc003tnz.3	+	3	324	c.279_splice	c.e3-1	p.S93_splice	PKD1L1_uc003tny.1_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Intron	NM_025031	NP_079307	Q9H7B7	CG069_HUMAN	hypothetical protein LOC80099 precursor							extracellular region					0						TTTGCACACAGCACCACCTAC	0.418			NA											10	6					0	0	0.006214	0	0
ABCA13	154664	broad.mit.edu	37	7	48312879	48312879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:48312879G>T	uc003toq.2	+	17	3641	c.3616G>T	c.(3616-3618)GCT>TCT	p.A1206S	ABCA13_uc010kyr.2_Missense_Mutation_p.A709S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1206					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCATAATGTTGCTAGACTCAT	0.388			NA											16	9					1.45105e-14	1.96126e-14	0.006122	1	0
ABCA13	154664	broad.mit.edu	37	7	48337984	48337984	+	Missense_Mutation	SNP	T	T	C	rs117649711	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:48337984T>C	uc003toq.2	+	23	9246	c.9221T>C	c.(9220-9222)ATG>ACG	p.M3074T	ABCA13_uc010kys.1_Missense_Mutation_p.M148T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3074					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAGATTTGATGAAGAATATC	0.328			NA											10	14					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82387927	82387927	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:82387927C>G	uc003uhx.2	-	25	15682	c.15393G>C	c.(15391-15393)TGG>TGC	p.W5131C		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5054					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAAGTTTGTGCCAGTTGACTA	0.393			NA											71	77					0	0	0.01441	0	0
PCLO	27445	broad.mit.edu	37	7	82579280	82579280	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:82579280G>T	uc003uhx.2	-	6	10913	c.10624C>A	c.(10624-10626)CGA>AGA	p.R3542R	PCLO_uc003uhv.2_Silent_p.R3542R|PCLO_uc010lec.2_Silent_p.R507R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3473					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCATCCACTCGTGCCCGTATG	0.448			NA											19	26					6.49762e-13	8.48132e-13	0.006122	1	0
COL1A2	1278	broad.mit.edu	37	7	94058669	94058669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:94058669G>C	uc003ung.1	+	51	4352	c.3881G>C	c.(3880-3882)GGC>GCC	p.G1294A	COL1A2_uc011kib.1_Missense_Mutation_p.G146A	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1294	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATTCTACAGGGCTCTAATGAT	0.448			NA								HNSCC(75;0.22)			21	23					0	0	0.010504	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445825	99445825	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:99445825G>T	uc003urx.1	+	6	572	c.469G>T	c.(469-471)GTG>TTG	p.V157L	CYP3A43_uc003ury.1_Missense_Mutation_p.V157L|CYP3A43_uc003urz.1_Missense_Mutation_p.V157L|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.G19V	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	157			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGATATGTTGGTGAGAAGCCT	0.488			NA											7	14					1.06961e-07	1.23803e-07	0.00308	1	0
MUC17	140453	broad.mit.edu	37	7	100675733	100675733	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:100675733G>T	uc003uxp.1	+	3	1089	c.1036G>T	c.(1036-1038)GTT>TTT	p.V346F	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	346	Extracellular (Potential).|Ser-rich.|3.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCATGCCGGTTGCCACTTC	0.483			NA											30	98					6.04164e-23	9.04089e-23	0.010818	1	0
C7orf60	154743	broad.mit.edu	37	7	112462041	112462041	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:112462041T>C	uc003vgo.1	-	5	1103	c.976A>G	c.(976-978)ACA>GCA	p.T326A	C7orf60_uc011kms.1_Missense_Mutation_p.T352A	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	326										ovary(2)|skin(1)	3						AAGTCACTTGTGGTTTTTAGA	0.373			NA											10	21					0	0	0.006214	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653414	121653414	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:121653414C>A	uc003vjy.2	+	12	4709	c.4314C>A	c.(4312-4314)TCC>TCA	p.S1438S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1438	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATGGCTTATCCATTCATAAGT	0.308			NA											11	31					0.000673444	0.000708978	0.008291	1	0
GRM8	2918	broad.mit.edu	37	7	126410120	126410120	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:126410120C>A	uc003vlr.2	-	6	1468	c.1157_splice	c.e6-1	p.G386_splice	GRM8_uc003vls.2_Splice_Site|GRM8_uc011kof.1_Splice_Site|GRM8_uc003vlt.2_Splice_Site_p.G386_splice|GRM8_uc010lkz.1_Splice_Site|GRM8_uc003vlu.1_Splice_Site_p.G107_splice	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTCCAGCCCTGCAAAATAA	0.378			NA								HNSCC(24;0.065)			16	12					1.52009e-12	1.97188e-12	0.003163	1	0
TRIM24	8805	broad.mit.edu	37	7	138189108	138189108	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:138189108G>A	uc003vuc.2	+	2	653	c.438G>A	c.(436-438)AAG>AAA	p.K146K	TRIM24_uc003vub.2_Silent_p.K146K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	146					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						TTTTTGTGAAGGACACTACTG	0.373	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)		NA											42	50					0	0	0.011902	0	0
MLL3	58508	broad.mit.edu	37	7	151962287	151962287	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:151962287T>A	uc003wla.2	-	8	1239	c.1020A>T	c.(1018-1020)GAA>GAT	p.E340D		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	340					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGTTTGCATCTTCCTTCGCTA	0.368	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								5	94					0	0	0.00308	0	0
CSMD1	64478	broad.mit.edu	37	8	2944645	2944645	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:2944645C>A	uc011kwk.1	-	49	7841	c.7451G>T	c.(7450-7452)TGG>TTG	p.W2484L	CSMD1_uc011kwj.1_Missense_Mutation_p.W1813L|CSMD1_uc010lrg.2_Missense_Mutation_p.W552L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2484	Sushi 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGGAGTCCCACTGGTACAT	0.478			NA											31	7					5.6714e-07	6.40517e-07	0.010818	1	0
NEFM	4741	broad.mit.edu	37	8	24775339	24775339	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:24775339G>T	uc003xed.3	+	3	2004	c.1971G>T	c.(1969-1971)CCG>CCT	p.P657P	NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Silent_p.P281P	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	657	4.|6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCTGTGCCGAAATCACCAG	0.478			NA											33	4					1.56442e-22	2.30807e-22	0.012213	1	0
ADAM18	8749	broad.mit.edu	37	8	39587426	39587426	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:39587426C>A	uc003xni.2	+	20	2187	c.2187C>A	c.(2185-2187)TCC>TCA	p.S729S	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.S705S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	729	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAATTCATCCGTTGTATCAG	0.308			NA											418	55					4.14718e-181	6.86826e-181	0.01441	1	0
HOOK3	84376	broad.mit.edu	37	8	42865485	42865485	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:42865485G>C	uc003xpr.2	+	19	2018	c.1776G>C	c.(1774-1776)AAG>AAC	p.K592N		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	592	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTTTACGAAAGAAAGAGGAAG	0.269			NA	T	RET	papillary thyroid								5	44					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763422	77763422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:77763422G>T	uc003yav.2	+	10	4517	c.4130G>T	c.(4129-4131)CGG>CTG	p.R1377L	ZFHX4_uc003yau.1_Missense_Mutation_p.R1422L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGCAATTCGGGCTGCGACA	0.458			NA								HNSCC(33;0.089)			11	10					3.86212e-05	4.1923e-05	0.008291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764395	77764395	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:77764395G>T	uc003yav.2	+	10	5490	c.5103G>T	c.(5101-5103)ACG>ACT	p.T1701T	ZFHX4_uc003yau.1_Silent_p.T1746T|ZFHX4_uc003yaw.1_Silent_p.T1701T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1701	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCTGGGACGGAGTTCAGCT	0.507			NA								HNSCC(33;0.089)			14	29					5.01169e-05	5.4261e-05	0.00499	1	0
MMP16	4325	broad.mit.edu	37	8	89209482	89209482	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:89209482C>T	uc003yeb.3	-	2	468	c.186G>A	c.(184-186)GTG>GTA	p.V62V	MMP16_uc003yec.2_Silent_p.V62V	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	62					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CAGAGCGCAGCACTGACATTC	0.438			NA											13	32					0	0	0.013537	0	0
OXR1	55074	broad.mit.edu	37	8	107752609	107752609	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:107752609A>G	uc011lht.1	+	13	2304	c.2205A>G	c.(2203-2205)CCA>CCG	p.P735P	OXR1_uc003ymf.2_Silent_p.P707P|OXR1_uc011lhu.1_Silent_p.P700P|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.P363P|OXR1_uc003ymk.2_Silent_p.P104P|OXR1_uc003yml.2_Silent_p.P77P	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	735	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTGGCTATCCATGGACTCTTG	0.368			NA											47	75					0	0	0.01441	0	0
COL14A1	7373	broad.mit.edu	37	8	121262859	121262859	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:121262859C>G	uc003yox.2	+	22	2871	c.2606C>G	c.(2605-2607)CCT>CGT	p.P869R	COL14A1_uc003yoy.2_Missense_Mutation_p.P547R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	869	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTTTAGTTCCTGGTCCAACA	0.383			NA											34	55					0	0	0.013726	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621365	144621365	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:144621365T>A	uc003yyd.2	-	2	201	c.172A>T	c.(172-174)AGC>TGC	p.S58C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	58					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCCTCCGGCTTGGACGAGGG	0.657			NA											25	37					0	0	0.007291	0	0
KLHL9	55958	broad.mit.edu	37	9	21333334	21333334	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:21333334A>G	uc003zoy.2	-	1	2096	c.1525T>C	c.(1525-1527)TAT>CAT	p.Y509H	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	509	Kelch 5.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACATCATCATAATCACTTGTT	0.453			NA											167	32					0	0	0.01441	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745436	37745436	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:37745436C>T	uc004aag.1	+	16	3451	c.3407C>T	c.(3406-3408)TCC>TTC	p.S1136F	FRMPD1_uc004aah.1_Missense_Mutation_p.S1136F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1136						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TCAGGTGACTCCCCGGGTGAT	0.438			NA											25	5					0	0	0.01892	0	0
LOC442421	442421	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	A	G	rs141617852	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:66499716A>G	uc004aee.1	+	1	526	c.526A>G	c.(526-528)AAT>GAT	p.N176D	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						CCTGGAGCCCAATCTGCTGGA	0.607			NA											8	55					0	0	0.006214	0	0
ZNF883	169834	broad.mit.edu	37	9	115759674	115759674	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:115759674C>T	uc011lwy.1	-	5	2105	c.866G>A	c.(865-867)TGT>TAT	p.C289Y		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGTTTCACACAAGAATGAAT	0.388			NA											6	136					0	0	0.004482	0	0
OR1J4	26219	broad.mit.edu	37	9	125281945	125281945	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:125281945C>A	uc011lyw.1	+	1	526	c.526C>A	c.(526-528)CAT>AAT	p.H176N		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CACCATCCCCCATTTCTTCTG	0.507			NA											35	13					4.34311e-12	5.54805e-12	0.015359	1	0
OR1N2	138882	broad.mit.edu	37	9	125316138	125316138	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:125316138G>A	uc011lyx.1	+	1	690	c.690G>A	c.(688-690)CTG>CTA	p.L230L		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	230	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						CCCTCCTGCTGATCGTCTTCT	0.517			NA											102	22					0	0	0.01441	0	0
NUP188	23511	broad.mit.edu	37	9	131749115	131749115	+	Missense_Mutation	SNP	C	C	T	rs148207291		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:131749115C>T	uc004bws.1	+	22	2247	c.2225C>T	c.(2224-2226)GCG>GTG	p.A742V	NUP188_uc004bwu.2_Missense_Mutation_p.A85V	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	742					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CTGATTCATGCGATACTGAAC	0.493			NA											4	50					0	0	0.014758	0	0
BAT2L1	84726	broad.mit.edu	37	9	134351524	134351524	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:134351524A>G	uc004can.3	+	15	4063	c.4008A>G	c.(4006-4008)GCA>GCG	p.A1336A	BAT2L1_uc010mzj.1_Silent_p.A919A|BAT2L1_uc004cao.3_Silent_p.A694A	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1336							protein binding				0						ACCTGCTGGCAGGTCAGTGGC	0.677			NA									OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	9					0	0	0.007413	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413252	139413252	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:139413252T>C	uc004chz.2	-	6	890	c.890A>G	c.(889-891)GAC>GGC	p.D297G		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	297	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACTCGTCCACATCCTC	0.637			NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			18	1					0	0	0.007413	0	0
TUBBP5	643224	broad.mit.edu	37	9	141071154	141071154	+	Missense_Mutation	SNP	T	T	C	rs150819761	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:141071154T>C	uc004com.2	+	4	818	c.557T>C	c.(556-558)GTC>GCC	p.V186A	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						GTGAACATGGTCCCGTTTCCC	0.632			NA											8	17					0	0	0.00308	0	0
FANCB	2187	broad.mit.edu	37	X	14863236	14863236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:14863236C>G	uc004cwg.1	-	8	1937	c.1669G>C	c.(1669-1671)GAT>CAT	p.D557H	FANCB_uc004cwh.1_Missense_Mutation_p.D557H	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	557					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TTCTTGCTATCAGGGGTCAAC	0.388			NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	FanconAnemia				81	99					0	0	0.01441	0	0
RAI2	10742	broad.mit.edu	37	X	17819005	17819005	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:17819005C>T	uc004cyf.2	-	3	1696	c.1126G>A	c.(1126-1128)GAG>AAG	p.E376K	RAI2_uc004cyg.2_Missense_Mutation_p.E376K|RAI2_uc010nfa.2_Missense_Mutation_p.E376K|RAI2_uc004cyh.3_Missense_Mutation_p.E376K|RAI2_uc011miy.1_Missense_Mutation_p.E326K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	376					embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					GGAAGTTTCTCCATCACTGTG	0.557			NA											24	43					0	0	0.016522	0	0
BEND2	139105	broad.mit.edu	37	X	18221854	18221854	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:18221854C>G	uc004cyj.3	-	5	828	c.674G>C	c.(673-675)GGC>GCC	p.G225A	BEND2_uc010nfb.2_Missense_Mutation_p.G225A	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	225										ovary(3)|kidney(1)|central_nervous_system(1)	5						AGGAAATGAGCCACCTTGTGC	0.453			NA											21	122					0	0	0.014323	0	0
PPEF1	5475	broad.mit.edu	37	X	18836203	18836203	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:18836203G>A	uc004cyq.2	+	16	1922	c.1441G>A	c.(1441-1443)GTG>ATG	p.V481M	PPEF1_uc004cyp.2_Missense_Mutation_p.V453M|PPEF1_uc004cyr.2_Missense_Mutation_p.V419M|PPEF1_uc004cys.2_Missense_Mutation_p.V481M|PPEF1_uc011mja.1_Missense_Mutation_p.V416M|PPEF1_uc011mjb.1_Missense_Mutation_p.V425M	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	481					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					AAGAGAGAGAGTGATTTCACG	0.348			NA											52	75					0	0	0.01441	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24382893	24382893	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:24382893G>T	uc011mjx.1	+	1	2016	c.2016G>T	c.(2014-2016)CAG>CAT	p.Q672H		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CACCCCTTCAGTTTTTCCTAA	0.602			NA											28	34					1.08312e-15	1.49285e-15	0.009535	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973708	29973708	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:29973708A>G	uc004dby.2	+	11	2370	c.1862A>G	c.(1861-1863)CAG>CGG	p.Q621R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	621	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						CAAATGCGTCAGAAACACTAC	0.527			NA											7	12					0	0	0.001984	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821060	35821060	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:35821060C>A	uc010ngt.1	+	2	1026	c.747C>A	c.(745-747)CTC>CTA	p.L249L		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	249	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						CCAGAATGCTCATCACCAAAG	0.502			NA											4	16					3.32936e-07	3.77027e-07	0.006122	1	0
CXorf38	159013	broad.mit.edu	37	X	40496313	40496313	+	Silent	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:40496313C>G	uc004dew.2	-	4	572	c.567G>C	c.(565-567)CTG>CTC	p.L189L	CXorf38_uc011mko.1_Silent_p.L104L|CXorf38_uc004dev.1_Silent_p.L70L|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	189										ovary(1)	1						TGAATTCATTCAGAAAATTTT	0.363			NA											52	57					0	0	0.01441	0	0
WAS	7454	broad.mit.edu	37	X	48547174	48547174	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48547174C>A	uc004dkm.3	+	10	1114	c.1057C>A	c.(1057-1059)CCA>ACA	p.P353T		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	353	Poly-Pro.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				TGCCCCACCCCCACCAACACC	0.692			NA	Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				3	2					6.4e-05	6.89509e-05	0.004672	1	0
OTUD5	55593	broad.mit.edu	37	X	48780529	48780529	+	Silent	SNP	C	C	A	rs138137225		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48780529C>A	uc004dlu.2	-	9	1699	c.1638G>T	c.(1636-1638)CTG>CTT	p.L546L	OTUD5_uc004dlt.3_Silent_p.L541L|OTUD5_uc004dlv.2_Silent_p.L541L|OTUD5_uc011mmp.1_Silent_p.L324L	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	546					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						GGGACACTGCCAGCACCGAAG	0.532			NA											23	39					0.00047179	0.000499192	0.01892	1	0
GPKOW	27238	broad.mit.edu	37	X	48972658	48972658	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48972658G>C	uc004dmr.2	-	7	940	c.933C>G	c.(931-933)GCC>GCG	p.A311A		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	311						nucleus	nucleic acid binding			ovary(2)	2						TCCGTGATGAGGCAGTTCCGT	0.537			NA											23	40					0	0	0.021523	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034397	49034397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:49034397G>T	uc004dmy.1	-	7	926	c.900C>A	c.(898-900)TGC>TGA	p.C300*	PRICKLE3_uc011mmv.1_Nonsense_Mutation_p.C232*|PRICKLE3_uc011mmw.1_Nonsense_Mutation_p.C219*|PRICKLE3_uc011mmx.1_Nonsense_Mutation_p.C262*|PRICKLE3_uc011mmy.1_Nonsense_Mutation_p.C287*	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	300	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(1)	1						CGTAGCAGGCGCAGCAGTGGG	0.617			NA											14	25					0.00244969	0.00254065	0.020292	1	0
GSPT2	23708	broad.mit.edu	37	X	51486783	51486783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:51486783G>T	uc004dpl.2	+	1	287	c.61G>T	c.(61-63)GAA>TAA	p.E21*		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	21					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					GGTGGACATGGAATCCCCGGG	0.677			NA											10	23					0.000978159	0.00102462	0.010729	1	0
TRO	7216	broad.mit.edu	37	X	54949157	54949157	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:54949157C>A	uc004dtq.2	+	3	299	c.192C>A	c.(190-192)AAC>AAA	p.N64K	TRO_uc011moj.1_Missense_Mutation_p.N7K|TRO_uc004dts.2_Missense_Mutation_p.N64K|TRO_uc004dtr.2_Missense_Mutation_p.N64K|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	64					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CAGTTGTCAACCGGCCTAAGA	0.537			NA											7	12					0.000157383	0.000167795	0.00308	1	0
MTMR8	55613	broad.mit.edu	37	X	63488738	63488738	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:63488738C>T	uc004dvs.2	-	14	1862	c.1794G>A	c.(1792-1794)ATG>ATA	p.M598I	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	598						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TTACTTGATCCATCTGAGCTC	0.507			NA											21	27					0	0	0.008871	0	0
VSIG4	11326	broad.mit.edu	37	X	65259825	65259825	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:65259825C>A	uc004dwh.2	-	1	143	c.16G>T	c.(16-18)GGC>TGC	p.G6C	VSIG4_uc004dwi.2_Missense_Mutation_p.G6C|VSIG4_uc010nkq.1_Missense_Mutation_p.G6C|VSIG4_uc004dwj.2_Missense_Mutation_p.G6C|VSIG4_uc011moy.1_Missense_Mutation_p.G6C|VSIG4_uc004dwk.2_Missense_Mutation_p.G6C	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	6					complement activation, alternative pathway	integral to membrane	protein binding				0						AGTAGCAGGCCCAGTAAGATC	0.567			NA											9	24					2.80697e-09	3.3992e-09	0.010729	1	0
HEPH	9843	broad.mit.edu	37	X	65415023	65415023	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:65415023C>A	uc011moz.1	+	9	1522	c.1462C>A	c.(1462-1464)CAT>AAT	p.H488N	HEPH_uc004dwn.2_Missense_Mutation_p.H488N|HEPH_uc004dwo.2_Missense_Mutation_p.H218N|HEPH_uc010nkr.2_Missense_Mutation_p.H488N|HEPH_uc011mpa.1_Missense_Mutation_p.H488N	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	485	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CATGCAGCCCCATGGGGTCTT	0.522			NA											22	25					6.44725e-10	7.92199e-10	0.014323	1	0
KIF4A	24137	broad.mit.edu	37	X	69622419	69622419	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:69622419T>A	uc004dyg.2	+	23	2620	c.2493T>A	c.(2491-2493)AGT>AGA	p.S831R	KIF4A_uc010nkw.2_Missense_Mutation_p.S831R	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	831	Potential.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						CCTGAAGGAGTGCTCAGATTG	0.453			NA											11	19					0	0	0.010729	0	0
FOXO4	4303	broad.mit.edu	37	X	70321152	70321152	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:70321152G>T	uc004dys.1	+	2	1425	c.1072G>T	c.(1072-1074)GGG>TGG	p.G358W	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.G303W	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	358					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AGCAGGAGAAGGGTGCTTCTC	0.612			NA									OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	10					4.7546e-09	5.74115e-09	0.004007	1	0
P2RY10	27334	broad.mit.edu	37	X	78216792	78216792	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:78216792T>C	uc004ede.2	+	4	1144	c.775T>C	c.(775-777)TAT>CAT	p.Y259H	P2RY10_uc004edf.2_Missense_Mutation_p.Y259H	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	259	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CTTCACTCCCTATCATATTAA	0.458			NA											56	52					0	0	0.01441	0	0
GPR174	84636	broad.mit.edu	37	X	78426678	78426678	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:78426678G>C	uc004edg.1	+	1	210	c.174G>C	c.(172-174)ATG>ATC	p.M58I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	58	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TGATATTTATGATAAACTTAG	0.408			NA								HNSCC(63;0.18)			10	17					0	0	0.008291	0	0
CHM	1121	broad.mit.edu	37	X	85213879	85213879	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:85213879C>A	uc004eet.2	-	6	836	c.806G>T	c.(805-807)GGA>GTA	p.G269V	CHM_uc011mqz.1_Missense_Mutation_p.G121V	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	269					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				TTCCACTCGTCCTTCTCGAAA	0.338			NA											37	87					3.78316e-11	4.73177e-11	0.00623	1	0
NRK	203447	broad.mit.edu	37	X	105167150	105167150	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:105167150T>A	uc004emd.2	+	18	2954	c.2651T>A	c.(2650-2652)GTA>GAA	p.V884E	NRK_uc010npc.1_Missense_Mutation_p.V552E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	884							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TCACCCCCTGTATACTTGACA	0.418			NA								HNSCC(51;0.14)			77	98					0	0	0.01441	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924711	109924711	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:109924711C>A	uc004eou.3	-	10	1504	c.1155G>T	c.(1153-1155)AAG>AAT	p.K385N	CHRDL1_uc004eov.2_Missense_Mutation_p.K374N|CHRDL1_uc004eow.2_Missense_Mutation_p.K383N|CHRDL1_uc010nps.2_Missense_Mutation_p.K384N|CHRDL1_uc004eot.2_Missense_Mutation_p.K304N|CHRDL1_uc011mss.1_Missense_Mutation_p.K299N	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	377					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CTTGCTCACCCTTTCGAATAG	0.443			NA											51	73					7.77372e-23	1.15914e-22	0.01441	1	0
WDR44	54521	broad.mit.edu	37	X	117570726	117570726	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:117570726G>C	uc004eqn.2	+	14	2338	c.1913G>C	c.(1912-1914)AGA>ACA	p.R638T	WDR44_uc004eqo.2_Missense_Mutation_p.R638T|WDR44_uc011mtr.1_Missense_Mutation_p.R613T|WDR44_uc010nqi.2_Missense_Mutation_p.R348T	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	638	WD 2.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ATTTCTCGAAGAGAATGCCTT	0.328			NA											39	53					0	0	0.00623	0	0
UPF3B	65109	broad.mit.edu	37	X	118972013	118972013	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:118972013G>T	uc004erz.1	-	10	1086	c.1009C>A	c.(1009-1011)CCT>ACT	p.P337T	UPF3B_uc004esa.1_Missense_Mutation_p.P324T	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	337	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TCATCTTCAGGTCTGCATGAA	0.473			NA											64	79					5.10508e-28	7.8931e-28	0.01441	1	0
GLUD2	2747	broad.mit.edu	37	X	120182428	120182428	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:120182428C>A	uc004eto.2	+	1	967	c.890C>A	c.(889-891)CCA>CAA	p.P297Q		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	297					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAATGACACCAGGGTTTAGA	0.408			NA											76	106					1.76847e-28	2.75461e-28	0.01441	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299865	125299865	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:125299865C>A	uc004euk.1	-	1	70	c.43G>T	c.(43-45)GCG>TCG	p.A15S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	15										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCCTCGACCGCGGGCGCTTTC	0.567			NA											7	6					2.0095e-06	2.25732e-06	0.001984	1	0
BCORL1	63035	broad.mit.edu	37	X	129148566	129148566	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:129148566G>C	uc004evb.1	+	4	1932	c.1818G>C	c.(1816-1818)CAG>CAC	p.Q606H	BCORL1_uc010nrd.1_Missense_Mutation_p.Q508H	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	606	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CACCGCCACAGCTGGAACGAG	0.602			NA											17	33					0	0	0.007413	0	0
RAB33A	9363	broad.mit.edu	37	X	129306210	129306210	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:129306210G>T	uc004evl.2	+	1	438	c.174G>T	c.(172-174)GGG>GGT	p.G58G	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	58					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						GCTTCTGCGGGGGTACCTTCC	0.562			NA											21	42					3.8784e-16	5.36321e-16	0.012319	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427710	134427710	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:134427710C>A	uc004eyp.2	-	3	3012	c.357G>T	c.(355-357)CAG>CAT	p.Q119H	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.Q119H	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	119	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGACCAGAGCCTGTTTGACAT	0.463			NA											62	55					1.41401e-22	2.10095e-22	0.01441	1	0
SLC9A6	10479	broad.mit.edu	37	X	135067822	135067822	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:135067822A>T	uc004ezj.2	+	1	237	c.161A>T	c.(160-162)GAC>GTC	p.D54V	SLC9A6_uc004ezk.2_Missense_Mutation_p.D54V|SLC9A6_uc011mvx.1_Missense_Mutation_p.D2V	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	54					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCATGGACGAGGAGATC	0.647			NA											22	43					0	0	0.01892	0	0
VGLL1	51442	broad.mit.edu	37	X	135631064	135631064	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:135631064C>T	uc004ezy.2	+	3	701	c.531C>T	c.(529-531)TGC>TGT	p.C177C	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGATGCCTAGCCCGTC	0.607			NA											6	133					0	0	0.001984	0	0
F9	2158	broad.mit.edu	37	X	138642899	138642899	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138642899G>T	uc004fas.1	+	7	753	c.724_splice	c.e7-1	p.V242_splice	F9_uc004fat.1_Splice_Site_p.V204_splice	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGTTTTCACAGGTTGTTTTGA	0.338			NA											57	66					7.47603e-22	1.09526e-21	0.01441	1	0
MCF2	4168	broad.mit.edu	37	X	138689898	138689898	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138689898C>A	uc004fau.2	-	12	1736	c.1442G>T	c.(1441-1443)GGT>GTT	p.G481V	MCF2_uc004fav.2_Missense_Mutation_p.G497V|MCF2_uc011mwl.1_Missense_Mutation_p.G458V|MCF2_uc010nsh.1_Missense_Mutation_p.G481V|MCF2_uc011mwm.1_Missense_Mutation_p.G442V|MCF2_uc011mwn.1_Missense_Mutation_p.G626V|MCF2_uc004faw.2_Missense_Mutation_p.G541V|MCF2_uc011mwo.1_Missense_Mutation_p.G557V	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	481					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GGAGGATGGACCAGAACTTCT	0.353			NA											27	44					3.90053e-15	5.30624e-15	0.012213	1	0
ATP11C	286410	broad.mit.edu	37	X	138880430	138880430	+	Splice_Site	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138880430A>G	uc004faz.2	-	10	965	c.866_splice	c.e10+1	p.K289_splice	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Splice_Site_p.K289_splice	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					GCGCATACTAACTTTTCAACA	0.313			NA											23	70					0	0	0.01892	0	0
TMEM185A	84548	broad.mit.edu	37	X	148693003	148693003	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:148693003C>A	uc011mxq.1	-	3	493	c.182G>T	c.(181-183)GGA>GTA	p.G61V	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_5'Flank	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	61	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTCCAGTTCCAACTGAGGC	0.458			NA											126	215					2.87069e-51	4.69851e-51	0.01441	1	0
ATP2B3	492	broad.mit.edu	37	X	152825273	152825273	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152825273C>A	uc004fht.1	+	16	2838	c.2712C>A	c.(2710-2712)CCC>CCA	p.P904P	ATP2B3_uc004fhs.1_Silent_p.P904P|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	904	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGCCACCCACAGAGTCGC	0.602			NA											24	22					1.22574e-08	1.4632e-08	0.014323	1	0
SLC6A8	6535	broad.mit.edu	37	X	152958790	152958790	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152958790A>T	uc004fib.3	+	6	1263	c.985A>T	c.(985-987)AGC>TGC	p.S329C	SLC6A8_uc004fic.3_Missense_Mutation_p.S329C|SLC6A8_uc011myx.1_Missense_Mutation_p.S214C|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	329	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AGCCCTGGGCAGCTACAACCG	0.507			NA											24	36					0	0	0.01892	0	0
ABCD1	215	broad.mit.edu	37	X	152991456	152991456	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152991456C>T	uc004fif.2	+	1	1134	c.735C>T	c.(733-735)GCC>GCT	p.A245A	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	245	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCGGCCATCGCCGGCC	0.701			NA											16	11					0	0	0.003163	0	0
FLNA	2316	broad.mit.edu	37	X	153582821	153582821	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:153582821C>G	uc004fkk.2	-	33	5593	c.5344G>C	c.(5344-5346)GGG>CGG	p.G1782R	FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.G1774R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1782	Filamin 16.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACATCCAGCCCATTGACACCC	0.612			NA											12	20					0	0	0.020292	0	0
FLNA	2316	broad.mit.edu	37	X	153596271	153596271	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:153596271G>T	uc004fkk.2	-	3	810	c.561C>A	c.(559-561)AAC>AAA	p.N187K	FLNA_uc010nuu.1_Missense_Mutation_p.N187K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	187	CH 2.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGCTGAAGTTGGTGATGG	0.687			NA											24	36					1.10923e-09	1.35501e-09	0.016522	1	0
F8	2157	broad.mit.edu	37	X	154157090	154157090	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:154157090G>T	uc004fmt.2	-	14	5146	c.4975C>A	c.(4975-4977)CCA>ACA	p.P1659T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1659	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGACTGGTGGGTTTTGAGAG	0.418			NA											61	84					4.09106e-26	6.25604e-26	0.01441	1	0
MTF2	22823	broad.mit.edu	37	1	93602318	93602327	+	Frame_Shift_Del	DEL	AGAGCACTCC	AGAGCACTCC	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	AGAGCACTCC	AGAGCACTCC	-	-	AGAGCACTCC	AGAGCACTCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:93602318_93602327delAGAGCACTCC	uc009wdj.2	+	15	1808_1817	c.1516_1525delAGAGCACTCC	c.(1516-1527)AGAGCACTCCAGfs	p.R506fs	MTF2_uc010oth.1_Frame_Shift_Del_p.R404fs|MTF2_uc009wdk.2_Frame_Shift_Del_p.R449fs|MTF2_uc001dpi.3_Frame_Shift_Del_p.R233fs|MTF2_uc010oti.1_Frame_Shift_Del_p.R404fs|MTF2_uc001dpj.3_Frame_Shift_Del_p.R404fs|MTF2_uc001dpl.3_Frame_Shift_Del_p.R404fs|MTF2_uc001dpm.3_Frame_Shift_Del_p.R175fs	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	506_509						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCTTCCAAGAAGAGCACTCCAGACTCAGAA	0.41			NA											8	117	---	---	---	---	NA	NA	NA	NA	NA
FAM40A	85369	broad.mit.edu	37	1	110590442	110590442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:110590442delA	uc001dza.1	+	15	1631	c.1612delA	c.(1612-1614)AAAfs	p.K538fs	FAM40A_uc001dyz.1_Frame_Shift_Del_p.K443fs|FAM40A_uc009wfp.1_Frame_Shift_Del_p.K362fs	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	538						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTCAAAAGCCAAAACAGACTC	0.502			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
COX8A	1351	broad.mit.edu	37	11	63743756	63743764	+	In_Frame_Del	DEL	CCTGTCACA	CCTGTCACA	-	rs11550240		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	CCTGTCACA	CCTGTCACA	-	-	CCTGTCACA	CCTGTCACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:63743756_63743764delCCTGTCACA	uc001nye.2	+	2	248_256	c.174_182delCCTGTCACA	c.(172-183)ATCCTGTCACAC>ATC	p.LSH59del		NM_004074	NP_004065	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIa precursor	59_61	Mitochondrial intermembrane (By similarity).				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0						CGGGCTGGATCCTGTCACACCTGGAGACC	0.579			NA											48	87	---	---	---	---	NA	NA	NA	NA	NA
NT5M	56953	broad.mit.edu	37	17	17207098	17207098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:17207098delG	uc002grf.2	+	1	419	c.234delG	c.(232-234)TCGfs	p.S78fs	NT5M_uc002gre.2_Frame_Shift_Del_p.S78fs|NT5M_uc002grg.2_Frame_Shift_Del_p.S78fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	78					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						TCTGGGTGTCGGAGCAGTACG	0.617			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
SUPT6H	6830	broad.mit.edu	37	17	27015143	27015143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:27015143delG	uc002hby.2	+	24	3131	c.3041delG	c.(3040-3042)CGGfs	p.R1014fs	SUPT6H_uc010crt.2_Frame_Shift_Del_p.R1014fs|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1014					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CTCGAGAGCCGGACCCAGCTG	0.607			NA											40	50	---	---	---	---	NA	NA	NA	NA	NA
COL29A1	256076	broad.mit.edu	37	3	130095082	130095082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130095082delC	uc010htj.1	+	3	564	c.70delC	c.(70-72)CCAfs	p.P24fs	COL29A1_uc010hti.1_RNA	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	collagen, type XXIX, alpha 1	24	Nonhelical region.				axon guidance|cell adhesion	collagen					0						TTTGATAGGGCCAGGCCCTGT	0.388			NA											28	53	---	---	---	---	NA	NA	NA	NA	NA
BCHE	590	broad.mit.edu	37	3	165491179	165491180	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:165491179_165491180delCA	uc003fem.3	-	4	1959_1960	c.1799_1800delTG	c.(1798-1800)GTGfs	p.V600fs	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	600					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTAGAGACCCACACAACTTTC	0.342			NA											15	39	---	---	---	---	NA	NA	NA	NA	NA
NDUFB5	4711	broad.mit.edu	37	3	179322663	179322663	+	Frame_Shift_Del	DEL	C	C	-	rs2271840		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:179322663delC	uc003fkc.2	+	1	89	c.60delC	c.(58-60)GGCfs	p.G20fs	MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Frame_Shift_Del_p.G20fs	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	20					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	CTCTGTCTGGCCGGCCCCTTG	0.652			NA											15	31	---	---	---	---	NA	NA	NA	NA	NA
GBA3	57733	broad.mit.edu	37	4	22749429	22749429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:22749429delA	uc003gqp.3	+	3	888	c.797delA	c.(796-798)GAAfs	p.E266fs	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.E267fs	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	266					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GATTATCCTGAAGTTGTCAAG	0.428			NA											13	30	---	---	---	---	NA	NA	NA	NA	NA
DNAH8	1769	broad.mit.edu	37	6	38743667	38743667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:38743667delA	uc003ooe.1	+	11	1851	c.1251delA	c.(1249-1251)CCAfs	p.P417fs		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCTGGATCCAAGAAGGACAG	0.303			NA											63	105	---	---	---	---	NA	NA	NA	NA	NA
DGKB	1607	broad.mit.edu	37	7	14216483	14216484	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:14216483_14216484insA	uc003ssz.2	-	24	2474_2475	c.2287_2288insT	c.(2287-2289)TGGfs	p.W763fs	DGKB_uc011jxt.1_Frame_Shift_Ins_p.W744fs|DGKB_uc003sta.2_Frame_Shift_Ins_p.W763fs|DGKB_uc011jxu.1_Frame_Shift_Ins_p.W762fs	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	763					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GGTCTGCATCCATGGCTCCCCA	0.381			NA											80	90	---	---	---	---	NA	NA	NA	NA	NA
CNBD1	168975	broad.mit.edu	37	8	88296927	88296927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:88296927delG	uc003ydy.2	+	7	841	c.793delG	c.(793-795)GGGfs	p.G265fs		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	265										ovary(3)	3						GAGTACCTTTGGGACTCTGGA	0.393			NA											7	9	---	---	---	---	NA	NA	NA	NA	NA
