Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
C1orf127	148345	broad.mit.edu	37	1	11024242	11024242	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:11024242C>T	uc010oao.1	-	1	17	c.12G>A	c.(10-12)CCG>CCA	p.P4P	C1orf127_uc001arr.1_Silent_p.P4P|C1orf127_uc001ars.1_Silent_p.P4P	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	4										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCTTAGCATCGGACACTTCA	0.542000												
NR0B2	8431	broad.mit.edu	37	1	27239982	27239982	+	Silent	SNP	T	T	C	rs139159423		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:27239982T>C	uc001bnf.2	-	1	586	c.450A>G	c.(448-450)CAA>CAG	p.Q150Q		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	150	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		CCAGACAGCATTGAAGCCACT	0.597000												
HIVEP3	59269	broad.mit.edu	37	1	42048532	42048532	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:42048532T>G	uc001cgz.3	-	4	3150	c.1937A>C	c.(1936-1938)AAC>ACC	p.N646T	HIVEP3_uc001cha.3_Missense_Mutation_p.N646T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	646	C2H2-type 3; degenerate.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCACATATGTTACATTCGTA	0.478000												
HIVEP3	59269	broad.mit.edu	37	1	42048615	42048615	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:42048615C>T	uc001cgz.3	-	4	3067	c.1854G>A	c.(1852-1854)TCG>TCA	p.S618S	HIVEP3_uc001cha.3_Silent_p.S618S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	618	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACTTCGTCCGAGGGCTTGG	0.517000												
ZFYVE9	9372	broad.mit.edu	37	1	52811788	52811788	+	Silent	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:52811788T>C	uc001cto.2	+	19	4345	c.4173T>C	c.(4171-4173)GAT>GAC	p.D1391D	ZFYVE9_uc001ctp.2_Silent_p.D1332D	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1391					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ACATGAATGATCTGGACAGCG	0.522000												
FGGY	55277	broad.mit.edu	37	1	60073568	60073568	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:60073568G>A	uc001czi.3	+	9	1209	c.997G>A	c.(997-999)GTT>ATT	p.V333I	FGGY_uc001czg.2_Missense_Mutation_p.V221I|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.V333I|FGGY_uc001czj.3_Missense_Mutation_p.V332I|FGGY_uc001czk.3_Missense_Mutation_p.V221I|FGGY_uc001czl.3_Missense_Mutation_p.V245I|FGGY_uc001czm.3_Missense_Mutation_p.V34I	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	333					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TGGTCAGAGCGTTACTGGAAA	0.433000												
TNNI3K	51086	broad.mit.edu	37	1	74957907	74957907	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:74957907G>A	uc001dgf.1	+	23	2359	c.2308G>A	c.(2308-2310)GAA>AAA	p.E770K	TNNI3K_uc001dge.1_Missense_Mutation_p.E871K	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	770						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCGAATTGGAATATGCTCT	0.448000												
AMY2A	279	broad.mit.edu	37	1	104160230	104160230	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:104160230G>T	uc001dut.2	+	1	232	c.168G>T	c.(166-168)CAG>CAT	p.Q56H	AMY2A_uc010ouq.1_Missense_Mutation_p.Q56H	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	56					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAGGGGTTCAGGTGGGTATGA	0.413000												
C1orf183	55924	broad.mit.edu	37	1	112269837	112269837	+	Missense_Mutation	SNP	C	C	T	rs139428718	by1000genomes	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:112269837C>T	uc001ebo.1	-	2	805	c.647G>A	c.(646-648)CGT>CAT	p.R216H	C1orf183_uc001ebp.1_Missense_Mutation_p.R201H	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	216										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		CCGCACACTACGCAAGAACTT	0.617000												
TCHH	7062	broad.mit.edu	37	1	152082181	152082181	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152082181C>T	uc001ezp.2	-	2	3512	c.3512G>A	c.(3511-3513)CGC>CAC	p.R1171H	TCHH_uc009wne.1_Missense_Mutation_p.R1171H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1171	4-9.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttcctcGCGGTATTGCCT	0.174000												
LCE2B	26239	broad.mit.edu	37	1	152659375	152659375	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152659375A>G	uc001fai.2	+	2	110	c.56A>G	c.(55-57)AAG>AGG	p.K19R		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	19	Pro-rich.|Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCCCAAGTGTACCCCA	0.522000												
IVL	3713	broad.mit.edu	37	1	152882720	152882720	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152882720A>T	uc001fau.2	+	2	493	c.447A>T	c.(445-447)AAA>AAT	p.K149N		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	149					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATGAAGAAAGAGCAACTGT	0.284000												
INSRR	3645	broad.mit.edu	37	1	156812986	156812986	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:156812986A>T	uc010pht.1	-	17	3190	c.2936T>A	c.(2935-2937)ATC>AAC	p.I979N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	979	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GATTATCGAGATCTGCTCCCG	0.602000												
FCRL1	115350	broad.mit.edu	37	1	157771938	157771938	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:157771938T>C	uc001frg.2	-	5	766	c.653A>G	c.(652-654)CAG>CGG	p.Q218R	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.Q218R|FCRL1_uc001fri.2_Missense_Mutation_p.Q218R|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	218	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGCAGCCTGGGCCCTGGG	0.567000												
CD1C	911	broad.mit.edu	37	1	158262135	158262135	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:158262135A>T	uc001fru.2	+	3	882	c.590A>T	c.(589-591)AAG>ATG	p.K197M	CD1C_uc001frv.2_Translation_Start_Site	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	197	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GATGCAGGGAAGATGTATGTA	0.458000												
EDEM3	80267	broad.mit.edu	37	1	184701990	184701990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:184701990C>T	uc010pok.1	-	6	854	c.593G>A	c.(592-594)AGT>AAT	p.S198N	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.S198N|EDEM3_uc001gqy.2_Missense_Mutation_p.S121N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	198					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						AGGAAGGCCACTGGTAGTGTT	0.358000												
PIGR	5284	broad.mit.edu	37	1	207103709	207103709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:207103709G>A	uc001hez.2	-	11	2433	c.2249C>T	c.(2248-2250)TCC>TTC	p.S750F	PIGR_uc009xbz.2_Missense_Mutation_p.S750F	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	750	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CACGGTGCTGGACTGGAGCAG	0.617000												
C4BPA	722	broad.mit.edu	37	1	207300153	207300153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:207300153C>T	uc001hfo.2	+	7	996	c.802C>T	c.(802-804)CAA>TAA	p.Q268*		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	268	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GTTTAAGTGCCAAAAAGGTTT	0.418000												
USH2A	7399	broad.mit.edu	37	1	216595587	216595587	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:216595587G>T	uc001hku.1	-	2	479	c.92C>A	c.(91-93)ACT>AAT	p.T31N	USH2A_uc001hkv.2_Missense_Mutation_p.T31N	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	31					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)		TCGTGACTCAGTCAAGGATAT	0.453000										HNSCC(13;0.011)		
ACTA1	58	broad.mit.edu	37	1	229568303	229568303	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:229568303C>T	uc001htm.2	-	3	559	c.454G>A	c.(454-456)GGC>AGC	p.G152S		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	152					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGGCACTCACCGGTGGTCCTG	0.502000												
RYR2	6262	broad.mit.edu	37	1	237713899	237713899	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:237713899G>A	uc001hyl.1	+	27	3242	c.3122G>A	c.(3121-3123)CGA>CAA	p.R1041Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1041	Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGATGACCGAACCAAGAAA	0.522000												
CUBN	8029	broad.mit.edu	37	10	17061967	17061967	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:17061967G>A	uc001ioo.2	-	28	4085	c.4033C>T	c.(4033-4035)CGG>TGG	p.R1345W		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1345	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCATCTGCCGTGGTCCATCA	0.493000												
PLXDC2	84898	broad.mit.edu	37	10	20568723	20568723	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:20568723G>T	uc001iqg.1	+	14	2202	c.1565G>T	c.(1564-1566)GGC>GTC	p.G522V	PLXDC2_uc001iqh.1_Missense_Mutation_p.G473V|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	522	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GAGAAAGAAGGCTTTATTGTA	0.423000												
CTNNA3	29119	broad.mit.edu	37	10	69366644	69366644	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:69366644G>A	uc009xpn.1	-	3	386	c.263C>T	c.(262-264)ACG>ATG	p.T88M	CTNNA3_uc001jmw.2_Missense_Mutation_p.T88M|CTNNA3_uc001jmx.3_Missense_Mutation_p.T88M|CTNNA3_uc009xpo.1_Missense_Mutation_p.R4W|CTNNA3_uc001jna.2_Missense_Mutation_p.T100M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	88	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AAGTGAAGCCGTAAGCTCATC	0.438000												
UNC5B	219699	broad.mit.edu	37	10	73050696	73050696	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:73050696C>T	uc001jro.2	+	9	1569	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	UNC5B_uc001jrp.2_Missense_Mutation_p.A364V	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	375	Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GGGGATGCGGCGCTGTATGCG	0.662000												
UNC5B	219699	broad.mit.edu	37	10	73055697	73055697	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:73055697A>G	uc001jro.2	+	14	2750	c.2305A>G	c.(2305-2307)AAG>GAG	p.K769E	UNC5B_uc001jrp.2_Missense_Mutation_p.K758E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	769	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TTGGAGGAGCAAGCTGCTGGC	0.627000												
MAT1A	4143	broad.mit.edu	37	10	82045320	82045320	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:82045320A>T	uc001kbw.2	-	2	372	c.117T>A	c.(115-117)GAT>GAA	p.D39E		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	39					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCAGCACTGCATCACTGATCT	0.448000												
CDHR1	92211	broad.mit.edu	37	10	85968016	85968016	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:85968016G>A	uc001kcv.2	+	11	1050	c.1050G>A	c.(1048-1050)CCG>CCA	p.P350P	CDHR1_uc001kcw.2_Silent_p.P350P|CDHR1_uc009xst.2_Silent_p.P109P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	350	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						ACAACCACCCGCCAACATTCT	0.602000												
NOLC1	9221	broad.mit.edu	37	10	103919017	103919017	+	Silent	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:103919017T>C	uc001kuo.2	+	6	910	c.675T>C	c.(673-675)AGT>AGC	p.S225S	NOLC1_uc001kup.2_Silent_p.S225S|NOLC1_uc001kuq.2_Silent_p.S226S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	225	11 X 12 AA approximate repeats of an acidic serine cluster.|Acidic serine cluster 4.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		gcagcagcagtagcagTGATG	0.398000												
SORCS3	22986	broad.mit.edu	37	10	106918738	106918738	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:106918738T>C	uc001kyi.1	+	11	1945	c.1718T>C	c.(1717-1719)CTT>CCT	p.L573P		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	573	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCCCAGGACTTGTGGTGGCT	0.378000												
OR52J3	119679	broad.mit.edu	37	11	5068262	5068262	+	Silent	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:5068262C>A	uc010qyv.1	+	1	507	c.507C>A	c.(505-507)CCC>CCA	p.P169P		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCGCCTACCCTTTTGTCAGG	0.443000												
DCHS1	8642	broad.mit.edu	37	11	6653349	6653349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:6653349G>A	uc001mem.1	-	6	3804	c.3394C>T	c.(3394-3396)CGA>TGA	p.R1132*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1132	Cadherin 11.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGAGTCTCGGTCAGTGGCA	0.602000												
MRGPRX2	117194	broad.mit.edu	37	11	19077106	19077106	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:19077106C>T	uc001mph.2	-	2	932	c.844G>A	c.(844-846)GTG>ATG	p.V282M		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	282	Helical; Name=7; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						AAAGAGCCCACGAAGAAGTAA	0.498000												
DCDC1	341019	broad.mit.edu	37	11	31349783	31349783	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:31349783C>G	uc001msv.2	-	3	247	c.45G>C	c.(43-45)CAG>CAC	p.Q15H	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	15					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ATAAGGAAGACTGAGATAGTG	0.348000												
PDHX	8050	broad.mit.edu	37	11	34991726	34991726	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:34991726T>A	uc001mvt.2	+	7	1383	c.857T>A	c.(856-858)GTT>GAT	p.V286D	PDHX_uc010rep.1_Missense_Mutation_p.V271D|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATTCGAAGAGTTATTGCCAAG	0.398000												
RAG2	5897	broad.mit.edu	37	11	36615566	36615566	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:36615566C>T	uc001mwv.3	-	2	341	c.153G>A	c.(151-153)AAG>AAA	p.K51K	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	51					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CATGGTTATGCTTTACATCCA	0.458000									Familial_Hemophagocytic_Lymphohistiocytosis			
LRP4	4038	broad.mit.edu	37	11	46911003	46911003	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:46911003G>A	uc001ndn.3	-	16	2320	c.2174C>T	c.(2173-2175)CCC>CTC	p.P725L		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	725	Extracellular (Potential).|EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAAGCCAGTGGGGCAGGCACA	0.607000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4A16	81327	broad.mit.edu	37	11	55110693	55110693	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:55110693A>T	uc010rie.1	+	1	17	c.17A>T	c.(16-18)AAT>ATT	p.N6I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						CCAAGCAGCAATGTTACAGAA	0.363000												
OR5AN1	390195	broad.mit.edu	37	11	59132682	59132682	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:59132682C>T	uc010rks.1	+	1	751	c.751C>T	c.(751-753)CTC>TTC	p.L251F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCTGTTTCCCTCTTCTATAC	0.428000												
NPAS4	266743	broad.mit.edu	37	11	66188802	66188802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:66188802G>A	uc001ohx.1	+	1	328	c.152G>A	c.(151-153)CGC>CAC	p.R51H	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	51	Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity				0						ATCTACACTCGCAAGGGCGTC	0.657000												
LRP5	4041	broad.mit.edu	37	11	68216312	68216312	+	Missense_Mutation	SNP	C	C	T	rs150862227		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:68216312C>T	uc001ont.2	+	23	4697	c.4622C>T	c.(4621-4623)ACG>ATG	p.T1541M	LRP5_uc009ysg.2_Missense_Mutation_p.T951M	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1541	PPPSP motif B.|Cytoplasmic (Potential).|Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCCGACGACGCCCTGCAGC	0.612000												
FOLH1B	219595	broad.mit.edu	37	11	89431659	89431659	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:89431659T>G	uc001pda.2	+	14	1747	c.1221T>G	c.(1219-1221)ATT>ATG	p.I407M		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	407					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TGTTTGATATTGAAAGCAAAG	0.468000												
ATM	472	broad.mit.edu	37	11	108175539	108175539	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:108175539G>A	uc001pkb.1	+	37	6019	c.5634G>A	c.(5632-5634)TCG>TCA	p.S1878S	ATM_uc009yxr.1_Silent_p.S1878S|ATM_uc001pke.1_Silent_p.S530S|ATM_uc001pkg.1_Silent_p.S235S|ATM_uc009yxt.1_Missense_Mutation_p.A22T	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1878					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GACACTTCTCGCAAACGAGCC	0.363000			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
ZBTB16	7704	broad.mit.edu	37	11	114118040	114118040	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:114118040A>C	uc001pop.2	+	6	2009	c.1745A>C	c.(1744-1746)AAG>ACG	p.K582T	ZBTB16_uc001poq.2_Missense_Mutation_p.K582T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	582	C2H2-type 7.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGTGGCAAGAAGTTCAGCCTC	0.597000												
C11orf63	79864	broad.mit.edu	37	11	122817312	122817312	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:122817312G>A	uc001pym.2	+	6	2038	c.1741G>A	c.(1741-1743)GTG>ATG	p.V581M		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	581										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTGACCGACGTGCAGCCCAG	0.517000												
B4GALNT3	283358	broad.mit.edu	37	12	653598	653598	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:653598C>A	uc001qii.1	+	4	445	c.445C>A	c.(445-447)CAT>AAT	p.H149N	B4GALNT3_uc001qij.1_Missense_Mutation_p.H51N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	149	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACTGTACCCCCATGTGAGTGC	0.567000												
TAS2R42	353164	broad.mit.edu	37	12	11338850	11338850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:11338850C>T	uc001qzr.1	-	1	694	c.694G>A	c.(694-696)GCC>ACC	p.A232T	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	232	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ATTTTCATGGCCCTCCTATGG	0.403000												
SLCO1B1	10599	broad.mit.edu	37	12	21325668	21325668	+	Missense_Mutation	SNP	C	C	T	rs139257324		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:21325668C>T	uc001req.3	+	3	273	c.169C>T	c.(169-171)CGG>TGG	p.R57W		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	57	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCATATAGAACGGAGATTTGA	0.323000												
CD63	967	broad.mit.edu	37	12	56120536	56120536	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:56120536T>C	uc001shm.2	-	4	470	c.374A>G	c.(373-375)AAT>AGT	p.N125S	CD63_uc009znz.2_Missense_Mutation_p.N102S|CD63_uc001shn.2_Missense_Mutation_p.N125S|CD63_uc001sho.2_Missense_Mutation_p.N125S|CD63_uc001shp.2_Missense_Mutation_p.N125S	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	125	Extracellular (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						TTTCGGGTAATTCTCCATCTG	0.517000												
LRP1	4035	broad.mit.edu	37	12	57579489	57579489	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:57579489C>T	uc001snd.2	+	41	7105	c.6639C>T	c.(6637-6639)CAC>CAT	p.H2213H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2213	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAGTATCCACCTGTCGGATG	0.617000												
PTPRB	5787	broad.mit.edu	37	12	71002847	71002847	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:71002847A>G	uc001swb.3	-	2	355	c.325_splice	c.e2+1	p.D109_splice	PTPRB_uc010sto.1_Splice_Site_p.D109_splice|PTPRB_uc010stp.1_Splice_Site_p.D109_splice|PTPRB_uc001swc.3_Splice_Site_p.D327_splice|PTPRB_uc001swa.3_Splice_Site_p.D327_splice|PTPRB_uc001swd.3_Splice_Site_p.D326_splice|PTPRB_uc009zrr.1_Splice_Site_p.D206_splice|PTPRB_uc001swe.2_Splice_Site_p.D327_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCATCCTTTACCTGTTTGCA	0.443000												
RAD9B	144715	broad.mit.edu	37	12	110957714	110957714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:110957714C>T	uc001trf.3	+	9	1021	c.883C>T	c.(883-885)CGA>TGA	p.R295*	RAD9B_uc001trg.3_Nonsense_Mutation_p.R295*|RAD9B_uc010sya.1_Nonsense_Mutation_p.R226*|RAD9B_uc001tre.3_Nonsense_Mutation_p.R223*|RAD9B_uc001trd.3_Nonsense_Mutation_p.R137*	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B	292					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						TTCACAGAAACGAAAAAGGTA	0.338000												
SDS	10993	broad.mit.edu	37	12	113835138	113835138	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:113835138G>C	uc001tvg.2	-	6	607	c.485C>G	c.(484-486)GCC>GGC	p.A162G	SDS_uc001tvh.1_Missense_Mutation_p.A162G	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	162					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGCGCGATGGCCCCCGGCTT	0.672000												
FRY	10129	broad.mit.edu	37	13	32811731	32811731	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:32811731G>C	uc001utx.2	+	44	6522	c.6026G>C	c.(6025-6027)TGT>TCT	p.C2009S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTCAGGCTTGTACCCAACAA	0.542000												
DCLK1	9201	broad.mit.edu	37	13	36700036	36700036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:36700036C>T	uc001uvf.2	-	2	472	c.239G>A	c.(238-240)CGG>CAG	p.R80Q		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGATCGGAACCGGTCTGGGGA	0.507000												
SOHLH2	54937	broad.mit.edu	37	13	36767772	36767772	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:36767772C>A	uc001uvj.2	-	4	505	c.416G>T	c.(415-417)TGT>TTT	p.C139F	SOHLH2_uc010tei.1_Missense_Mutation_p.C216F	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	139					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTTTGAGGGACATGTTGTCCA	0.323000												
PCDH17	27253	broad.mit.edu	37	13	58209029	58209029	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:58209029G>A	uc001vhq.1	+	1	3241	c.2349G>A	c.(2347-2349)ATG>ATA	p.M783I	PCDH17_uc010aec.1_Missense_Mutation_p.M783I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAACGTCATGAACGTGGTGA	0.587000												
PCDH20	64881	broad.mit.edu	37	13	61985660	61985660	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:61985660T>A	uc001vid.3	-	2	2936	c.2572A>T	c.(2572-2574)AGA>TGA	p.R858*	PCDH20_uc010thj.1_Nonsense_Mutation_p.R858*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	831	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTTCTTTTCTTAAAAGACTC	0.408000												
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:19553749G>A	uc001vuz.1	+	1	385	c.333G>A	c.(331-333)GGG>GGA	p.G111G	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	111										ovary(1)	1						GCTGCAGGGGGAGCGGCAAGA	0.597000												
MYH7	4625	broad.mit.edu	37	14	23894051	23894051	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:23894051C>T	uc001wjx.2	-	22	2712	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	869	Potential.		R -> G (in CMH1).|R -> C (in CMH1).|R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTTGCGGCGAGCCTCGGA	0.582000												
RPL10L	140801	broad.mit.edu	37	14	47120431	47120431	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:47120431T>G	uc001wwg.2	-	1	598	c.509A>C	c.(508-510)AAG>ACG	p.K170T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	170					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GAAGCCCCACTTCTTGGAGAT	0.502000												
C14orf49	161176	broad.mit.edu	37	14	95921749	95921749	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:95921749C>T	uc001yei.3	-	5	1117	c.1102G>A	c.(1102-1104)GAG>AAG	p.E368K	C14orf49_uc010avi.2_Missense_Mutation_p.E368K|C14orf49_uc001yej.1_Missense_Mutation_p.E368K	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	368	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGCTCGTCCTCGGTCCCCGCT	0.647000												
ATP8B4	79895	broad.mit.edu	37	15	50211119	50211119	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:50211119T>G	uc001zxu.2	-	19	2094	c.1952A>C	c.(1951-1953)AAG>ACG	p.K651T	ATP8B4_uc010ber.2_Missense_Mutation_p.K524T|ATP8B4_uc010ufd.1_Missense_Mutation_p.K461T|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	651	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			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)		CTCCTGTAACTTATCTTCTAC	0.343000												
ZNF609	23060	broad.mit.edu	37	15	64966687	64966687	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:64966687T>C	uc002ann.2	+	4	1634	c.1634T>C	c.(1633-1635)CTT>CCT	p.L545P		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	545						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CATGCAGATCTTGGGAGCTGC	0.537000												
IGDCC3	9543	broad.mit.edu	37	15	65622985	65622985	+	Silent	SNP	G	G	T	rs141538048		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:65622985G>T	uc002aos.2	-	10	1908	c.1656C>A	c.(1654-1656)GGC>GGA	p.G552G	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	552	Extracellular (Potential).|Fibronectin type-III 2.									ovary(3)	3						GCTTGAAGCCGCCCTCGTGCT	0.667000												
FAH	2184	broad.mit.edu	37	15	80465483	80465483	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:80465483G>T	uc002bfj.2	+	10	916	c.834G>T	c.(832-834)AAG>AAT	p.K278N	FAH_uc002bfk.1_Missense_Mutation_p.K278N|FAH_uc002bfm.1_Missense_Mutation_p.K278N|FAH_uc002bfn.1_Missense_Mutation_p.K208N	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	278					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						CCAACCCGAAGCAGGTAAGCA	0.592000									Tyrosinemia_type_1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDIA2	64714	broad.mit.edu	37	16	334907	334907	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:334907C>T	uc002cgn.1	+	9	1678	c.570C>T	c.(568-570)TTC>TTT	p.F190F	PDIA2_uc010bqt.1_Silent_p.F35F|PDIA2_uc002cgo.1_Silent_p.F190F	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	190					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGCCACCTTCTTGGCCTTGG	0.662000												
TMC7	79905	broad.mit.edu	37	16	19020541	19020541	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:19020541T>C	uc002dfq.2	+	2	245	c.115T>C	c.(115-117)TTC>CTC	p.F39L	TMC7_uc010vao.1_Missense_Mutation_p.F39L|TMC7_uc002dfp.2_Missense_Mutation_p.F39L|TMC7_uc010vap.1_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	39	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3						ACCTGTGAACTTCCTCCAAGA	0.483000												
CD19	930	broad.mit.edu	37	16	28943926	28943926	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:28943926G>A	uc002drs.2	+	2	410	c.348G>A	c.(346-348)GAG>GAA	p.E116E	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.E116E	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	116	Extracellular (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						TCAATGTGGAGGGCAGCGGTG	0.657000												
SLC9A5	6553	broad.mit.edu	37	16	67286649	67286649	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:67286649A>C	uc002esm.2	+	2	455	c.392A>C	c.(391-393)AAC>ACC	p.N131T	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	131					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TTCTTTGACAACTTGGGTGCC	0.562000												
FOXC2	2303	broad.mit.edu	37	16	86601967	86601967	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:86601967C>T	uc002fjq.2	+	1	1111	c.1026C>T	c.(1024-1026)GCC>GCT	p.A342A		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	342					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding				0						ACACCGGGGCCGAGCGGCCGG	0.716000									Late-onset_Hereditary_Lymphedema			
NCOR1	9611	broad.mit.edu	37	17	15965113	15965113	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:15965113G>A	uc002gpo.2	-	37	5723	c.5483C>T	c.(5482-5484)GCA>GTA	p.A1828V	NCOR1_uc002gpn.2_Missense_Mutation_p.A1844V|NCOR1_uc002gpm.2_Missense_Mutation_p.A348V|NCOR1_uc010vwb.1_Missense_Mutation_p.A412V|NCOR1_uc010coy.2_Missense_Mutation_p.A736V|NCOR1_uc010vwc.1_Missense_Mutation_p.A638V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1828	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCAGAAGCTGCAGCATCCAC	0.537000												
KRT27	342574	broad.mit.edu	37	17	38935958	38935958	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:38935958G>A	uc002hvg.2	-	4	881	c.840C>T	c.(838-840)AAC>AAT	p.N280N		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	280	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TTACCTTTTCGTTGAACCAGG	0.662000												
GPATCH8	23131	broad.mit.edu	37	17	42476351	42476351	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:42476351G>A	uc002igw.1	-	8	3158	c.3094C>T	c.(3094-3096)CGC>TGC	p.R1032C	GPATCH8_uc002igv.1_Missense_Mutation_p.R954C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R954C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1032						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GACTGGGAGCGGTAGATCTTA	0.562000												
OSBPL7	114881	broad.mit.edu	37	17	45892625	45892625	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:45892625C>T	uc002ilx.1	-	13	1416	c.1213G>A	c.(1213-1215)GAT>AAT	p.D405N	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	405					lipid transport		lipid binding				0						TCGCAGGCATCGAAGAACTCC	0.602000												
SCRN2	90507	broad.mit.edu	37	17	45915694	45915694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:45915694C>T	uc002imd.2	-	7	1187	c.1061G>A	c.(1060-1062)CGT>CAT	p.R354H	SCRN2_uc002imc.2_Missense_Mutation_p.R362H|SCRN2_uc002imf.2_Missense_Mutation_p.R354H|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	354					proteolysis		dipeptidase activity			ovary(1)	1						GGTATGCCGACGATCTACCTG	0.622000												
SPAG9	9043	broad.mit.edu	37	17	49091614	49091614	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:49091614C>T	uc002itc.2	-	9	1401	c.1192G>A	c.(1192-1194)GAT>AAT	p.D398N	SPAG9_uc002itb.2_Missense_Mutation_p.D384N|SPAG9_uc002itd.2_Missense_Mutation_p.D384N|SPAG9_uc002itf.2_Missense_Mutation_p.D219N|SPAG9_uc002ita.2_Missense_Mutation_p.D241N|SPAG9_uc002ite.2_Missense_Mutation_p.D228N	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	398					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)			GCTCCTTCATCCACATCTCCT	0.353000												
SMURF2	64750	broad.mit.edu	37	17	62542381	62542381	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:62542381C>T	uc002jep.1	-	18	2535	c.2147G>A	c.(2146-2148)TGC>TAC	p.C716Y	SMURF2_uc002jeq.1_Missense_Mutation_p.C475Y|SMURF2_uc002jer.1_Missense_Mutation_p.C475Y	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	716	HECT.	Glycyl thioester intermediate (By similarity).		C->G: Loss of activity. Loss of ability to ubiquitinate SMAD1 and SMAD2 and no down-regulation of SMAD1 and SMAD2 protein levels.|C->A: Increases Smad7-bound TGF-beta receptors in membrane rafts.	BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AATACCTTACCAAGTGTGGGC	0.408000												
TMX3	54495	broad.mit.edu	37	18	66378633	66378633	+	Missense_Mutation	SNP	C	C	T	rs140330197		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr18:66378633C>T	uc002lkf.2	-	3	244	c.109G>A	c.(109-111)GAA>AAA	p.E37K	TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.E37K|TMX3_uc002lkg.3_Missense_Mutation_p.E37K	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	37	Thioredoxin.|Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.E37K(1)		skin(1)	1						TTTCGATTTTCTTTAAACCTA	0.274000												
CNDP1	84735	broad.mit.edu	37	18	72228193	72228193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr18:72228193C>T	uc002llq.2	+	4	617	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	136					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTTGGACGTGCAGCCTGCTGA	0.642000												
PRAM1	84106	broad.mit.edu	37	19	8563996	8563996	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:8563996C>G	uc002mkd.2	-	2	716	c.696G>C	c.(694-696)CAG>CAC	p.Q232H	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232H	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0						GGCCACCGACCTGAGGCTGCG	0.632000												
ICAM1	3383	broad.mit.edu	37	19	10394179	10394179	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:10394179G>A	uc002mnq.2	+	3	673	c.354G>A	c.(352-354)CTG>CTA	p.L118L	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	118	Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGGTGGAACTGGCACCCCTCC	0.642000												
RYR1	6261	broad.mit.edu	37	19	38937121	38937121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:38937121C>T	uc002oit.2	+	8	771	c.641C>T	c.(640-642)ACG>ATG	p.T214M	RYR1_uc002oiu.2_Missense_Mutation_p.T214M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	214	MIR 3.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTTCGTGACGGGAGGTCAC	0.602000												
ZNF284	342909	broad.mit.edu	37	19	44590346	44590346	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:44590346A>C	uc002oyg.1	+	5	931	c.715A>C	c.(715-717)AGT>CGT	p.S239R	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	239	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GTGTGGGAAAAGTTTCAGCCG	0.408000												
ZNF320	162967	broad.mit.edu	37	19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:53384360C>T	uc002qag.2	-	4	1210	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428000												
PRKCG	5582	broad.mit.edu	37	19	54395881	54395881	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:54395881G>C	uc002qcq.1	+	7	1087	c.805G>C	c.(805-807)GCG>CCG	p.A269P	PRKCG_uc010eqz.1_Missense_Mutation_p.A269P|PRKCG_uc010yef.1_Missense_Mutation_p.A269P|PRKCG_uc010yeg.1_Missense_Mutation_p.A269P|PRKCG_uc010yeh.1_Missense_Mutation_p.A156P	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	269					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCTGCTCAAGGCGCCCGTGGA	0.642000												
PTPRH	5794	broad.mit.edu	37	19	55708067	55708067	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:55708067C>T	uc002qjq.2	-	10	2153	c.2080G>A	c.(2080-2082)GAG>AAG	p.E694K	PTPRH_uc010esv.2_Missense_Mutation_p.E516K|PTPRH_uc002qjs.2_Missense_Mutation_p.E701K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	694	Extracellular (Potential).|Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCAAAGGCCTCGTAGCCTCCC	0.612000												
ZNF256	10172	broad.mit.edu	37	19	58452346	58452346	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:58452346T>A	uc002qqu.2	-	3	2065	c.1830A>T	c.(1828-1830)AAA>AAT	p.K610N	ZNF256_uc010euj.2_Missense_Mutation_p.K457N	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	610	C2H2-type 15.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AGGTAAAAAATTTTCCACAGT	0.443000												
ATAD2B	54454	broad.mit.edu	37	2	24005831	24005831	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:24005831T>C	uc002rek.3	-	22	3335	c.3041A>G	c.(3040-3042)AAA>AGA	p.K1014R	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.K254R|ATAD2B_uc002rej.3_Missense_Mutation_p.K182R	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1014	Bromo.						ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAATTATGTTTATCAATTTT	0.318000												
NRXN1	9378	broad.mit.edu	37	2	51254789	51254789	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:51254789G>A	uc010fbq.2	-	2	2100	c.623C>T	c.(622-624)CCG>CTG	p.P208L	NRXN1_uc002rxe.3_Missense_Mutation_p.P208L|NRXN1_uc002rxd.1_Missense_Mutation_p.P208L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGTTGGGCGGCTCATCGTC	0.701000												
LRRTM4	80059	broad.mit.edu	37	2	77746756	77746756	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:77746756T>C	uc002snr.2	-	3	654	c.239A>G	c.(238-240)CAG>CGG	p.Q80R	LRRTM4_uc002snq.2_Missense_Mutation_p.Q80R|LRRTM4_uc002sns.2_Missense_Mutation_p.Q80R|LRRTM4_uc002snt.2_Missense_Mutation_p.Q81R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	80	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GCCGGCAAACTGATTGGATTT	0.418000												
C2orf49	79074	broad.mit.edu	37	2	105959540	105959540	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:105959540A>G	uc002tcs.1	+	3	534	c.502A>G	c.(502-504)AAT>GAT	p.N168D	C2orf49_uc010fjd.1_Intron	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	168						tRNA-splicing ligase complex					0						GGAACACAATAATAATGACGC	0.408000												
GPR39	2863	broad.mit.edu	37	2	133175221	133175221	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:133175221C>T	uc002ttl.2	+	1	1075	c.606C>T	c.(604-606)CCC>CCT	p.P202P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	202	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACGAGCAGCCCGAGACCTCCA	0.622000												
GALNT13	114805	broad.mit.edu	37	2	155102467	155102467	+	Silent	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:155102467A>C	uc002tyr.3	+	7	1396	c.829A>C	c.(829-831)AGG>CGG	p.R277R	GALNT13_uc002tyt.3_Silent_p.R277R|GALNT13_uc010foc.1_Silent_p.R96R|GALNT13_uc010fod.2_Silent_p.R30R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	277	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AATGGACAGGAGGAAAGGAGA	0.378000												
SCN3A	6328	broad.mit.edu	37	2	165947600	165947600	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:165947600T>C	uc002ucx.2	-	28	5555	c.5063A>G	c.(5062-5064)GAC>GGC	p.D1688G	SCN3A_uc010zcy.1_Missense_Mutation_p.D171G|SCN3A_uc002ucy.2_Missense_Mutation_p.D1639G|SCN3A_uc002ucz.2_Missense_Mutation_p.D1639G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1688						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTTGAACATGTCATCAATTCC	0.423000												
SCN2A	6326	broad.mit.edu	37	2	166172072	166172072	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:166172072A>C	uc002udc.2	+	11	1765	c.1475A>C	c.(1474-1476)AAG>ACG	p.K492T	SCN2A_uc002udd.2_Missense_Mutation_p.K492T|SCN2A_uc002ude.2_Missense_Mutation_p.K492T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	492					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GTAGCATCTAAGTTGAGCTCC	0.348000												
TTN	7273	broad.mit.edu	37	2	179594952	179594952	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:179594952A>G	uc010zfg.1	-	59	14667	c.14443T>C	c.(14443-14445)TCA>CCA	p.S4815P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1476P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5742							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)			TTCCAAACTGAGCGGGCTGCT	0.468000												
TTN	7273	broad.mit.edu	37	2	179611639	179611639	+	Missense_Mutation	SNP	C	C	T	rs150492317		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:179611639C>T	uc002unb.2	-	46	15712	c.15488G>A	c.(15487-15489)CGT>CAT	p.R5163H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388000												
ZNF142	7701	broad.mit.edu	37	2	219509670	219509670	+	Silent	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:219509670C>A	uc002vin.2	-	8	2005	c.1569G>T	c.(1567-1569)CGG>CGT	p.R523R	ZNF142_uc002vil.2_Silent_p.R484R|ZNF142_uc010fvt.2_Silent_p.R360R|ZNF142_uc002vim.2_Silent_p.R360R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	523	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTCATACTTCCGCTTGCAGG	0.607000												
TMC2	117532	broad.mit.edu	37	20	2604963	2604963	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:2604963G>A	uc002wgf.1	+	17	2242	c.2227G>A	c.(2227-2229)GAT>AAT	p.D743N	TMC2_uc002wgg.1_Missense_Mutation_p.D727N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	743	Extracellular (Potential).					integral to membrane				ovary(3)	3						CATTGAAAACGATTTCCCAAC	0.483000												
PAK7	57144	broad.mit.edu	37	20	9546762	9546762	+	Silent	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:9546762G>T	uc002wnl.2	-	6	1805	c.1260C>A	c.(1258-1260)TCC>TCA	p.S420S	PAK7_uc002wnk.2_Silent_p.S420S|PAK7_uc002wnj.2_Silent_p.S420S|PAK7_uc010gby.1_Silent_p.S420S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	420	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GCTGCTGGTCGGAGGAGGAGC	0.632000												
C20orf12	55184	broad.mit.edu	37	20	18414372	18414372	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:18414372A>G	uc010zsa.1	-	9	1051	c.842T>C	c.(841-843)ATG>ACG	p.M281T	C20orf12_uc002wqp.3_Missense_Mutation_p.M13T|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.M148T|C20orf12_uc002wqq.3_Missense_Mutation_p.M262T|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	89						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				GGGAGTGTTCATGGGTACCAA	0.458000												
FOXA2	3170	broad.mit.edu	37	20	22564868	22564868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:22564868C>A	uc002wsn.2	-	2	221	c.31G>T	c.(31-33)GAG>TAG	p.E11*	FOXA2_uc002wsm.2_Nonsense_Mutation_p.E17*	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	11					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					TCGGACGGCTCGTGCCCTTCC	0.587000												
C20orf114	92747	broad.mit.edu	37	20	31890858	31890858	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:31890858G>A	uc002wyw.1	+	11	1279	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	C20orf114_uc002wyx.1_RNA	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	373						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						GAAGCCCTCCGCCCTTTGTTC	0.532000												
SGK2	10110	broad.mit.edu	37	20	42196350	42196350	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:42196350G>A	uc002xkv.2	+	3	531	c.312G>A	c.(310-312)GGG>GGA	p.G104G	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.G44G|SGK2_uc010ggm.2_Silent_p.G44G|SGK2_uc002xks.2_Silent_p.G44G|SGK2_uc002xku.2_Silent_p.G44G|SGK2_uc002xkq.1_Silent_p.G44G	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	104	ATP (By similarity).|Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGGCAAAGGGAACTACGGGA	0.552000												
JPH2	57158	broad.mit.edu	37	20	42788598	42788598	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:42788598C>T	uc002xli.1	-	2	1702	c.829G>A	c.(829-831)GCA>ACA	p.A277T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	277	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCGAAGGGTGCGGCCTCGTCG	0.687000												
SLC12A5	57468	broad.mit.edu	37	20	44681717	44681717	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:44681717C>T	uc010zxl.1	+	19	2644	c.2568C>T	c.(2566-2568)CAC>CAT	p.H856H	SLC12A5_uc002xrb.2_Silent_p.H833H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	856	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGATTGTGCACGATGGAGGCA	0.448000												
DOK5	55816	broad.mit.edu	37	20	53208299	53208299	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:53208299G>A	uc002xwy.2	+	5	774	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DOK5_uc010gin.2_Missense_Mutation_p.R77Q|DOK5_uc002xwz.2_Missense_Mutation_p.R47Q	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCGCCCTGCGGCGGTATGGA	0.458000												
MC3R	4159	broad.mit.edu	37	20	54824725	54824725	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:54824725T>A	uc002xxb.2	+	1	938	c.826T>A	c.(826-828)TGC>AGC	p.C276S		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	313	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTACTGCATCTGCTACACTGC	0.567000												
CACNG2	10369	broad.mit.edu	37	22	36960645	36960645	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr22:36960645C>T	uc003aps.1	-	4	1007	c.725G>A	c.(724-726)CGC>CAC	p.R242H		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	242					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						CTCCGTGGAGCGCGAGCTGGA	0.697000												
SYN2	6854	broad.mit.edu	37	3	12182165	12182165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:12182165G>A	uc003bwm.2	+	6	556	c.392G>A	c.(391-393)CGG>CAG	p.R131Q	SYN2_uc003bwl.1_Missense_Mutation_p.R131Q	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	131					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AAGTGCTTTCGGGGCAAAAAA	0.423000												
SCN11A	11280	broad.mit.edu	37	3	38950622	38950622	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:38950622A>C	uc011ays.1	-	9	1364	c.1165T>G	c.(1165-1167)TTC>GTC	p.F389V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	389	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATCAGGTAGAAGGAGCCCAGG	0.448000												
CACNA2D2	9254	broad.mit.edu	37	3	50405113	50405113	+	Missense_Mutation	SNP	C	C	T	rs148442391		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:50405113C>T	uc003daq.2	-	27	2316	c.2278G>A	c.(2278-2280)GCT>ACT	p.A760T	CACNA2D2_uc003dap.2_Missense_Mutation_p.A753T|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	760	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCTGTGGCAGCGAACACGGCC	0.632000												
DNAH12	201625	broad.mit.edu	37	3	57494188	57494188	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:57494188G>A	uc003dit.2	-	7	803	c.622C>T	c.(622-624)CAT>TAT	p.H208Y	DNAH12_uc003diu.2_Missense_Mutation_p.H208Y	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	208	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						ATAGTTGGATGAATAATGTGC	0.343000												
EPHA6	285220	broad.mit.edu	37	3	96533679	96533679	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:96533679C>A	uc010how.1	+	1	255	c.212C>A	c.(211-213)CCT>CAT	p.P71H	EPHA6_uc003drp.1_Missense_Mutation_p.P71H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GACCCCCATCCTACCCAGAAC	0.562000												
STXBP5L	9515	broad.mit.edu	37	3	120973864	120973864	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:120973864T>A	uc003eec.3	+	16	1704	c.1564T>A	c.(1564-1566)TGG>AGG	p.W522R	STXBP5L_uc011bji.1_Missense_Mutation_p.W522R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	522	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GATGATTTACTGGTGTCCAGA	0.353000												
CHST13	166012	broad.mit.edu	37	3	126260803	126260803	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:126260803C>T	uc003eja.2	+	3	408	c.408C>T	c.(406-408)CGC>CGT	p.R136R		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	136	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		GCGACCCGCGCGCCATCTCCG	0.721000												
EEFSEC	60678	broad.mit.edu	37	3	127983559	127983559	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:127983559A>G	uc003eki.2	+	4	759	c.721A>G	c.(721-723)ATG>GTG	p.M241V	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	241						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						AGGCACTGTGATGACAGGGAC	0.562000												
IFT122	55764	broad.mit.edu	37	3	129180108	129180108	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:129180108A>G	uc003emm.2	+	5	516	c.310A>G	c.(310-312)ATT>GTT	p.I104V	IFT122_uc003eml.2_Missense_Mutation_p.I155V|IFT122_uc003emn.2_Missense_Mutation_p.I104V|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Missense_Mutation_p.I155V|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'Flank|IFT122_uc011bla.1_5'Flank|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	104	WD 3.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CTACAATCCTATTACTCATCA	0.408000												
TOPBP1	11073	broad.mit.edu	37	3	133339033	133339033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:133339033G>A	uc003eps.2	-	20	3469	c.3337C>T	c.(3337-3339)CGC>TGC	p.R1113C	TOPBP1_uc003ept.1_Missense_Mutation_p.R117C	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1113					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CGTCCACTGCGAGCAGAGCGA	0.502000								Other_conserved_DNA_damage_response_genes				
TOPBP1	11073	broad.mit.edu	37	3	133372361	133372361	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:133372361C>G	uc003eps.2	-	7	882	c.750G>C	c.(748-750)AAG>AAC	p.K250N		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	250	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CACACTCATACTTCTGACCTG	0.348000								Other_conserved_DNA_damage_response_genes				
SI	6476	broad.mit.edu	37	3	164764797	164764797	+	Silent	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:164764797A>G	uc003fei.2	-	16	1781	c.1719T>C	c.(1717-1719)GCT>GCC	p.A573A		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	573	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTTTTGTACAGCTCTAAAAA	0.294000										HNSCC(35;0.089)		
SPATA16	83893	broad.mit.edu	37	3	172642045	172642045	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:172642045T>C	uc003fin.3	-	8	1449	c.1291A>G	c.(1291-1293)AAG>GAG	p.K431E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	431					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGATTCGCTTCCCCATTGTC	0.328000												
ATP13A5	344905	broad.mit.edu	37	3	193081105	193081105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:193081105C>T	uc011bsq.1	-	3	304	c.304G>A	c.(304-306)GTA>ATA	p.V102I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	102					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCTTACAGGAAACTTC	0.398000												
PCDH7	5099	broad.mit.edu	37	4	30723907	30723907	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:30723907G>A	uc003gsk.1	+	1	1871	c.863G>A	c.(862-864)CGC>CAC	p.R288H	PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	288	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GACCCGCCTCGCTCCTCGCAG	0.672000												
KLF3	51274	broad.mit.edu	37	4	38698837	38698837	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:38698837C>T	uc003gth.3	+	6	1323	c.991C>T	c.(991-993)CGT>TGT	p.R331C		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	331	C2H2-type 3.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CAGCTTCTCCCGTTCTGACCA	0.522000												
LPHN3	23284	broad.mit.edu	37	4	62452949	62452949	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:62452949C>T	uc010ihh.2	+	2	233	c.60C>T	c.(58-60)TTC>TTT	p.F20F	LPHN3_uc003hcq.3_Silent_p.F20F|LPHN3_uc010ihg.1_Silent_p.F88F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	20	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TGGCAGCTTTCAGCCGTGCCC	0.453000												
UGT2A3	79799	broad.mit.edu	37	4	69817169	69817169	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:69817169A>C	uc003hef.2	-	1	341	c.310T>G	c.(310-312)TGG>GGG	p.W104G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	104	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						ACTGATTGCCAGGTTGATAAG	0.343000												
GK2	2712	broad.mit.edu	37	4	80329230	80329230	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:80329230T>G	uc003hlu.2	-	1	143	c.125A>C	c.(124-126)GAA>GCA	p.E42A		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	42					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TTGTGTTAATTCCACTTTGTG	0.468000												
ADH1B	125	broad.mit.edu	37	4	100237383	100237383	+	Silent	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:100237383G>A	uc003hus.3	-	4	420	c.336C>T	c.(334-336)TGC>TGT	p.C112C	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.C72C|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.C72C	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	112		Zinc 2.			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATTTTTCAAGCAGTAGTTGC	0.418000												
FAT4	79633	broad.mit.edu	37	4	126397386	126397386	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:126397386A>C	uc003ifj.3	+	12	12268	c.12268A>C	c.(12268-12270)AGT>CGT	p.S4090R	FAT4_uc011cgp.1_Missense_Mutation_p.S2353R|FAT4_uc003ifi.1_Missense_Mutation_p.S1568R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4090	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGTACTGTCAGTAATGTGGC	0.303000												
DNAH5	1767	broad.mit.edu	37	5	13766258	13766258	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:13766258G>A	uc003jfd.2	-	59	9970	c.9928C>T	c.(9928-9930)CGC>TGC	p.R3310C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3310	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCCAACGTGCGAACAGTGGCG	0.522000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13841082	13841082	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:13841082G>A	uc003jfd.2	-	34	5684	c.5642C>T	c.(5641-5643)ACG>ATG	p.T1881M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1881	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CACTCGTTCCGTGGAACTCAG	0.398000									Kartagener_syndrome			
RGS7BP	401190	broad.mit.edu	37	5	63871703	63871703	+	Silent	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:63871703G>T	uc003jtj.2	+	3	435	c.435G>T	c.(433-435)CTG>CTT	p.L145L	RGS7BP_uc011cqu.1_Silent_p.L12L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	145					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCATATGTCTGCTGGGGTCTC	0.423000												
ELL2	22936	broad.mit.edu	37	5	95278738	95278738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:95278738G>A	uc003klr.3	-	2	513	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	55					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATTGAAGGTCGAAAAGGAATT	0.318000												
FAM174A	345757	broad.mit.edu	37	5	99871318	99871318	+	Silent	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:99871318G>T	uc003knj.1	+	1	204	c.84G>T	c.(82-84)GGG>GGT	p.G28G	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	28						integral to membrane					0						AACTAAGCGGGCCCCTGGCAG	0.672000												
ST8SIA4	7903	broad.mit.edu	37	5	100192077	100192077	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:100192077T>C	uc003knk.2	-	4	855	c.527A>G	c.(526-528)GAG>GGG	p.E176G		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	176	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCAGCAAACTCCACCACAGG	0.363000												
PCDHA10	56139	broad.mit.edu	37	5	140236968	140236968	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140236968C>T	uc003lhx.2	+	1	1335	c.1335C>T	c.(1333-1335)GCC>GCT	p.A445A	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_Silent_p.A445A|PCDHA10_uc011dad.1_Silent_p.A445A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	445	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCCGACGTGAACG	0.672000												
PCDHB8	56128	broad.mit.edu	37	5	140559623	140559623	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140559623C>A	uc011dai.1	+	1	2194	c.2008C>A	c.(2008-2010)CCC>ACC	p.P670T	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	670	Cadherin 6.|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)			CTTCTCCCAGCCCTACCTGCC	0.677000												
PCDHB14	56122	broad.mit.edu	37	5	140604640	140604640	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140604640C>T	uc003ljb.2	+	1	1563	c.1563C>T	c.(1561-1563)TAC>TAT	p.Y521Y	PCDHB14_uc011dal.1_Silent_p.Y368Y	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	521	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTAC	0.687000												
HAVCR1	26762	broad.mit.edu	37	5	156482248	156482248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:156482248C>T	uc010jij.1	-	3	528	c.343G>A	c.(343-345)GAC>AAC	p.D115N	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.D115N|HAVCR1_uc011ddm.1_Missense_Mutation_p.D115N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	115	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTTCATGTCATTGAACCAC	0.393000												
GABRG2	2566	broad.mit.edu	37	5	161520906	161520906	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:161520906A>C	uc003lyz.3	+	2	538	c.180A>C	c.(178-180)AAA>AAC	p.K60N	GABRG2_uc010jjc.2_Missense_Mutation_p.K60N|GABRG2_uc003lyy.3_Missense_Mutation_p.K60N|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	60	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGACTCCAAAAGTTCCTGAGG	0.378000												
KCNIP1	30820	broad.mit.edu	37	5	169931586	169931586	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:169931586G>A	uc003mas.2	+	1	539	c.10G>A	c.(10-12)GTC>ATC	p.V4I	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Missense_Mutation_p.V4I|KCNIP1_uc010jjp.2_5'UTR|KCNIP1_uc010jjq.2_Missense_Mutation_p.V4I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	4					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGGGGGCCGTCATGGGCAC	0.577000												
EHMT2	10919	broad.mit.edu	37	6	31852190	31852190	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:31852190C>T	uc003nxz.1	-	21	2760	c.2750G>A	c.(2749-2751)CGC>CAC	p.R917H	EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.R115H|EHMT2_uc003nxy.1_Missense_Mutation_p.R715H|EHMT2_uc011don.1_Missense_Mutation_p.R940H|EHMT2_uc003nya.1_Missense_Mutation_p.R883H	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	917					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTTCTCTGTGCGGATGGCCCG	0.632000												
VPS52	6293	broad.mit.edu	37	6	33231568	33231568	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:33231568A>G	uc003odm.1	-	16	1919	c.1709T>C	c.(1708-1710)ATG>ACG	p.M570T	VPS52_uc003odn.1_Missense_Mutation_p.M381T	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	570					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ACCCAGCATCATGTCATAGTT	0.393000												
LHFPL5	222662	broad.mit.edu	37	6	35773558	35773558	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:35773558C>T	uc003olg.1	+	1	488	c.111C>T	c.(109-111)TCC>TCT	p.S37S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	37	Helical; (Potential).					integral to membrane				skin(1)	1						TCTGCTTCTCCGTACTGGTCA	0.602000												
FAM83B	222584	broad.mit.edu	37	6	54806758	54806758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:54806758C>T	uc003pck.2	+	5	3105	c.2989C>T	c.(2989-2991)CGA>TGA	p.R997*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	997										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACAAGTTTCGAGGATTTAT	0.333000												
RAB23	51715	broad.mit.edu	37	6	57075034	57075034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:57075034G>A	uc003pds.2	-	2	351	c.145C>T	c.(145-147)CGA>TGA	p.R49*	RAB23_uc003pdt.2_Nonsense_Mutation_p.R49*|RAB23_uc010kac.2_Nonsense_Mutation_p.R49*|RAB23_uc010kad.2_RNA	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Ras-related protein Rab-23	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			skin(1)	1	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAATTTGTCGCTCCAAAAAA	0.358000												
FAM184A	79632	broad.mit.edu	37	6	119345138	119345138	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:119345138C>T	uc003pyj.2	-	2	1348	c.1000G>A	c.(1000-1002)GAG>AAG	p.E334K	FAM184A_uc003pyk.3_Missense_Mutation_p.E214K|FAM184A_uc003pyl.3_Missense_Mutation_p.E214K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	334	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ACATTGTTCTCTGCTATGGCA	0.368000												
GRM1	2911	broad.mit.edu	37	6	146720482	146720482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:146720482C>A	uc010khw.1	+	8	2777	c.2307C>A	c.(2305-2307)TAC>TAA	p.Y769*	GRM1_uc010khv.1_Nonsense_Mutation_p.Y769*|GRM1_uc003qll.2_Nonsense_Mutation_p.Y769*|GRM1_uc011edz.1_Nonsense_Mutation_p.Y769*|GRM1_uc011eea.1_Nonsense_Mutation_p.Y769*	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	769	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTGTACCTACTATGCCTTCA	0.507000												
SYNJ2	8871	broad.mit.edu	37	6	158487596	158487596	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:158487596T>C	uc003qqx.1	+	12	1721	c.1646T>C	c.(1645-1647)GTG>GCG	p.V549A	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.V549A|SYNJ2_uc003qqy.1_Missense_Mutation_p.V262A|SYNJ2_uc011efn.1_Missense_Mutation_p.V477A|SYNJ2_uc010kjo.1_Missense_Mutation_p.V498A|SYNJ2_uc003qqz.1_Missense_Mutation_p.V166A	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	549	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGAGCAACGTGCTCAGGACG	0.587000												
RUNDC3B	154661	broad.mit.edu	37	7	87329821	87329821	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:87329821G>T	uc003ujb.2	+	4	785	c.374G>T	c.(373-375)TGT>TTT	p.C125F	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.C108F|RUNDC3B_uc011khe.1_Missense_Mutation_p.C108F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.C108F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.C30F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	125	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					TCACAGAATTGTATCTGCAGC	0.383000												
ZNF804B	219578	broad.mit.edu	37	7	88956701	88956701	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:88956701C>A	uc011khi.1	+	3	831	c.293C>A	c.(292-294)GCT>GAT	p.A98D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	98						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGAAATGTAGCTTCTAAGTCA	0.323000										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88965059	88965059	+	Silent	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:88965059C>A	uc011khi.1	+	4	3301	c.2763C>A	c.(2761-2763)ACC>ACA	p.T921T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	921						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAGAGGACCCCTCTAACAG	0.408000										HNSCC(36;0.09)		
SAMD9L	219285	broad.mit.edu	37	7	92761613	92761613	+	Silent	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:92761613G>T	uc003umh.1	-	5	4888	c.3672C>A	c.(3670-3672)TCC>TCA	p.S1224S	SAMD9L_uc003umj.1_Silent_p.S1224S|SAMD9L_uc003umi.1_Silent_p.S1224S|SAMD9L_uc010lfb.1_Silent_p.S1224S|SAMD9L_uc003umk.1_Silent_p.S1224S|SAMD9L_uc010lfc.1_Silent_p.S1224S|SAMD9L_uc010lfd.1_Silent_p.S1224S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1224										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATGTTTTTTGGATAATTCAT	0.373000												
BET1	10282	broad.mit.edu	37	7	93623678	93623678	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:93623678G>T	uc003unf.1	-	4	383	c.221C>A	c.(220-222)ACA>AAA	p.T74K	BET1_uc003une.3_RNA	NM_005868	NP_005859	O15155	BET1_HUMAN	blocked early in transport 1	74	Cytoplasmic (Potential).|t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding				0	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			AAATCCAGTTGTGGAATCAAA	0.343000												
ZAN	7455	broad.mit.edu	37	7	100364791	100364791	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:100364791G>A	uc003uwj.2	+	25	4936	c.4771G>A	c.(4771-4773)GGG>AGG	p.G1591R	ZAN_uc003uwk.2_Missense_Mutation_p.G1591R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.G168R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1591	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGAGAACCGCGGGGGGATCCT	0.572000												
CADPS2	93664	broad.mit.edu	37	7	122028700	122028700	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:122028700G>A	uc010lkp.2	-	22	3264	c.3101C>T	c.(3100-3102)GCC>GTC	p.A1034V	CADPS2_uc011knx.1_Missense_Mutation_p.A409V|CADPS2_uc003vkg.3_Missense_Mutation_p.A688V|CADPS2_uc010lkq.2_Missense_Mutation_p.A988V	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1034	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TAAGTGGTGGGCAAATTCCTG	0.423000												
LUZP6	767558	broad.mit.edu	37	7	135614721	135614721	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:135614721C>T	uc003vte.3	-	4	666	c.310G>A	c.(310-312)GCC>ACC	p.A104T	LUZP6_uc010lmv.2_RNA	NM_145808	NP_665807	Q538Z0	LUZP6_HUMAN	myotrophin	Error:Variant_position_missing_in_Q538Z0_after_alignment											0						GCTTCAAAGGCGGTCAGTCCA	0.502000												
TRYX3	136541	broad.mit.edu	37	7	141955044	141955044	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:141955044A>T	uc003vxb.2	-	3	587	c.267T>A	c.(265-267)CAT>CAA	p.H89Q	TRYX3_uc003vxc.3_Missense_Mutation_p.H89Q	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)					AGTGTGGATGATGAATCATCT	0.408000												
CNTNAP2	26047	broad.mit.edu	37	7	146997356	146997356	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:146997356A>C	uc003weu.1	+	9	1988	c.1472A>C	c.(1471-1473)AAA>ACA	p.K491T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	491	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTCAAGTTAAAACTGGCGAG	0.388000										HNSCC(39;0.1)		
C7orf29	113763	broad.mit.edu	37	7	150027913	150027913	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:150027913C>T	uc003wgy.2	+	1	976	c.420C>T	c.(418-420)TCC>TCT	p.S140S	LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	hypothetical protein LOC113763	140										ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAAGAGCTCCGGGGTGGAGG	0.622000												
REEP4	80346	broad.mit.edu	37	8	21996454	21996454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:21996454G>A	uc003xau.1	-	6	991	c.538C>T	c.(538-540)CGG>TGG	p.R180W	REEP4_uc010ltt.1_Intron	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	180						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGTGGCCTCCGGTGGGACACC	0.652000												
LEPROTL1	23484	broad.mit.edu	37	8	29963316	29963316	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:29963316A>T	uc003xhw.3	+	4	441	c.334A>T	c.(334-336)ACT>TCT	p.T112S	LEPROTL1_uc003xhx.2_Intron	NM_015344	NP_056159	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	112	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CATCTTTGCAACTATACTAGG	0.413000												
FGFR1	2260	broad.mit.edu	37	8	38271510	38271510	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:38271510C>T	uc003xlp.2	-	18	3160	c.2218G>A	c.(2218-2220)GTG>ATG	p.V740M	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.V738M|FGFR1_uc011lbp.1_Missense_Mutation_p.V651M|FGFR1_uc011lbq.1_Missense_Mutation_p.V649M|FGFR1_uc010lwk.2_Missense_Mutation_p.V730M	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	740	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGTGAGGGCACTGCATGCCAG	0.607000		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
TRPA1	8989	broad.mit.edu	37	8	72966069	72966069	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:72966069C>T	uc003xza.2	-	13	1738	c.1563G>A	c.(1561-1563)GCG>GCA	p.A521A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	521	ANK 13.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CGCCCATGGACGCATGATGCA	0.478000												
GDF6	392255	broad.mit.edu	37	8	97157137	97157137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:97157137C>T	uc003yhp.2	-	2	1122	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	341					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CTTGCCATGGCGACTGGCGAA	0.433000												
LRP12	29967	broad.mit.edu	37	8	105509670	105509670	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:105509670T>G	uc003yma.2	-	5	1205	c.1110A>C	c.(1108-1110)CAA>CAC	p.Q370H	LRP12_uc003ymb.2_Missense_Mutation_p.Q351H|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	370	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCCATCTACTTGGTAAGTAG	0.448000												
SYBU	55638	broad.mit.edu	37	8	110587148	110587148	+	Missense_Mutation	SNP	C	C	T	rs74885615	byFrequency	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:110587148C>T	uc003ynj.3	-	7	2142	c.1979G>A	c.(1978-1980)CGT>CAT	p.R660H	SYBU_uc003yni.3_Missense_Mutation_p.R657H|SYBU_uc003ynk.3_Missense_Mutation_p.R541H|SYBU_uc010mco.2_Missense_Mutation_p.R659H|SYBU_uc003ynl.3_Missense_Mutation_p.R659H|SYBU_uc010mcp.2_Missense_Mutation_p.R660H|SYBU_uc010mcq.2_Missense_Mutation_p.R660H|SYBU_uc003yno.3_Missense_Mutation_p.R541H|SYBU_uc010mcr.2_Missense_Mutation_p.R660H|SYBU_uc003ynm.3_Missense_Mutation_p.R659H|SYBU_uc003ynn.3_Missense_Mutation_p.R659H|SYBU_uc010mcs.2_Missense_Mutation_p.R541H|SYBU_uc010mct.2_Missense_Mutation_p.R660H|SYBU_uc010mcu.2_Missense_Mutation_p.R659H|SYBU_uc003ynp.3_Missense_Mutation_p.R592H|SYBU_uc010mcv.2_Missense_Mutation_p.R660H|SYBU_uc003ynh.3_Missense_Mutation_p.R454H|SYBU_uc011lhw.1_Missense_Mutation_p.R530H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	660						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.R657H(1)		ovary(1)	1						GGTTTTGATACGGAAGGCGGT	0.527000												
CSMD3	114788	broad.mit.edu	37	8	113293418	113293418	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:113293418A>T	uc003ynu.2	-	59	9652	c.9493T>A	c.(9493-9495)TTA>ATA	p.L3165I	CSMD3_uc003yns.2_Missense_Mutation_p.L2367I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3125I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2996I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3165	Extracellular (Potential).|Sushi 23.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAGTTAGGTAAAGTTCCAGAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113649169	113649169	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:113649169A>C	uc003ynu.2	-	22	3751	c.3592T>G	c.(3592-3594)TTT>GTT	p.F1198V	CSMD3_uc003yns.2_Missense_Mutation_p.F470V|CSMD3_uc003ynt.2_Missense_Mutation_p.F1158V|CSMD3_uc011lhx.1_Missense_Mutation_p.F1094V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1198	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCAATCCCAAAGTTGAACCCG	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ADCY8	114	broad.mit.edu	37	8	132002740	132002740	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:132002740A>G	uc003ytd.3	-	2	1265	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	ADCY8_uc010mds.2_Missense_Mutation_p.F337L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	337	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAACTGATGAAGATTCCAGCT	0.512000										HNSCC(32;0.087)		
PTK2	5747	broad.mit.edu	37	8	141711019	141711019	+	Missense_Mutation	SNP	G	G	A	rs150410292	byFrequency	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:141711019G>A	uc003yvu.2	-	26	2700	c.2470C>T	c.(2470-2472)CGC>TGC	p.R824C	PTK2_uc011ljp.1_Missense_Mutation_p.R132C|PTK2_uc003yvo.2_Missense_Mutation_p.R452C|PTK2_uc011ljq.1_Missense_Mutation_p.R519C|PTK2_uc003yvp.2_Missense_Mutation_p.R492C|PTK2_uc003yvq.2_Missense_Mutation_p.R350C|PTK2_uc003yvr.2_Missense_Mutation_p.R764C|PTK2_uc003yvs.2_Missense_Mutation_p.R778C|PTK2_uc003yvt.2_Missense_Mutation_p.R846C|PTK2_uc003yvv.2_Missense_Mutation_p.R724C|PTK2_uc011ljr.1_Missense_Mutation_p.R824C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	824	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCAGCCAGCGCTGATCTTCT	0.433000												
KIAA1797	54914	broad.mit.edu	37	9	20988425	20988425	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:20988425C>T	uc003zog.1	+	43	5364	c.5001C>T	c.(4999-5001)GAC>GAT	p.D1667D	KIAA1797_uc003zoh.1_Silent_p.D1103D	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1667						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CGGCTCTTGACAAGGTAAAAT	0.284000												
TRPM6	140803	broad.mit.edu	37	9	77411801	77411801	+	Silent	SNP	T	T	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:77411801T>A	uc004ajl.1	-	18	2485	c.2247A>T	c.(2245-2247)ATA>ATT	p.I749I	TRPM6_uc004ajk.1_Silent_p.I744I|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.I127I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	749	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AAATAATGCTTATAATAATCT	0.318000												
TRPM6	140803	broad.mit.edu	37	9	77427319	77427319	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:77427319C>A	uc004ajl.1	-	12	1577	c.1339G>T	c.(1339-1341)GCT>TCT	p.A447S	TRPM6_uc004ajk.1_Missense_Mutation_p.A442S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.A447S|TRPM6_uc010mpd.1_Missense_Mutation_p.A447S|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	447	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ATCACTAAAGCATCTGACATT	0.378000												
SVEP1	79987	broad.mit.edu	37	9	113196685	113196685	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:113196685G>T	uc010mtz.2	-	30	5327	c.4990C>A	c.(4990-4992)CTG>ATG	p.L1664M		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1664	Sushi 5.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTCCCGACCAGCTGGAAGCCT	0.502000												
SLC46A2	57864	broad.mit.edu	37	9	115652545	115652545	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:115652545C>T	uc004bgk.2	-	1	649	c.417G>A	c.(415-417)GCG>GCA	p.A139A		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	139	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						TCAGCGCCGCCGCCCCGTACA	0.692000												
ASTN2	23245	broad.mit.edu	37	9	120176865	120176865	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:120176865G>T	uc004bjs.1	-	1	453	c.352C>A	c.(352-354)CGC>AGC	p.R118S	ASTN2_uc004bjr.1_Missense_Mutation_p.R118S|ASTN2_uc004bjt.1_Missense_Mutation_p.R118S	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	118	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGCAGGAGGCGCGACTCGGCG	0.562000												
ARX	170302	broad.mit.edu	37	X	25033778	25033778	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:25033778G>A	uc004dbp.3	-	1	288	c.77C>T	c.(76-78)TCC>TTC	p.S26F		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GATGCAGTAGGAGGAGAGCAA	0.627000												
PCDH11X	27328	broad.mit.edu	37	X	91873460	91873460	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:91873460G>A	uc004efk.1	+	7	4410	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M	PCDH11X_uc004efl.1_Missense_Mutation_p.V1179M|PCDH11X_uc004efo.1_Missense_Mutation_p.V1152M|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.V1181M|PCDH11X_uc004efn.1_Missense_Mutation_p.V1171M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1189	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCCCACGAGTGACACAGAC	0.587000												
COL4A5	1287	broad.mit.edu	37	X	107838773	107838773	+	Silent	SNP	A	A	C			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:107838773A>C	uc004enz.1	+	22	1660	c.1458A>C	c.(1456-1458)GGA>GGC	p.G486G	COL4A5_uc011mso.1_Silent_p.G486G|COL4A5_uc004eob.1_Silent_p.G94G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	486	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ACTGCATTGGAACTGGTATTT	0.413000									Alport_syndrome_with_Diffuse_Leiomyomatosis			
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:125299816G>A	uc004euk.1	-	1	119	c.92C>T	c.(91-93)GCG>GTG	p.A31V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCTCCGTCCGCCGCCGCTAA	0.701000												
ARHGAP36	158763	broad.mit.edu	37	X	130219891	130219891	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:130219891C>T	uc004evz.2	+	9	1454	c.1109C>T	c.(1108-1110)CCA>CTA	p.P370L	ARHGAP36_uc004ewa.2_Missense_Mutation_p.P358L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.P339L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.P234L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	370	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						GCCTAGGTCCCAGGCAACCGT	0.438000												
RENBP	5973	broad.mit.edu	37	X	153208373	153208373	+	Silent	SNP	C	C	T			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:153208373C>T	uc004fjo.1	-	6	791	c.621G>A	c.(619-621)GAG>GAA	p.E207E	RENBP_uc011mzh.1_Silent_p.E207E	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	207	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCGCCAGCTCCTCATCTGCCT	0.701000												
B3GNT6	192134	broad.mit.edu	37	11	76751504	76751504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:76751504delG	uc001oxw.2	+	2	997	c.909delG	c.(907-909)CCGfs	p.P303fs		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	303	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						gccACACCCCGCTCTTCCCCA	0.562												
TP53	7157	broad.mit.edu	37	17	7578453	7578477	+	Frame_Shift_Del	DEL	GGCGCGGACGCGGGTGCCGGGCGGG	GGCGCGGACGCGGGTGCCGGGCGGG	-	rs139200646		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:7578453_7578477delGGCGCGGACGCGGGTGCCGGGCGGG	uc002gim.2	-	5	647_671	c.453_477delCCCGCCCGGCACCCGCGTCCGCGCC	c.(451-477)CCCCCGCCCGGCACCCGCGTCCGCGCCfs	p.P151fs	TP53_uc002gig.1_Frame_Shift_Del_p.P151fs|TP53_uc002gih.2_Frame_Shift_Del_p.P151fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P19fs|TP53_uc010cng.1_Frame_Shift_Del_p.P19fs|TP53_uc002gii.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P151fs|TP53_uc010cni.1_Frame_Shift_Del_p.P151fs|TP53_uc002gij.2_Frame_Shift_Del_p.P151fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P58fs|TP53_uc002gio.2_Frame_Shift_Del_p.P19fs|TP53_uc010vug.1_Frame_Shift_Del_p.P112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151_159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(139)|p.P151S(61)|p.R158H(58)|p.P152L(57)|p.R158L(55)|p.G154V(36)|p.A159V(30)|p.P151H(25)|p.R156P(24)|p.P152S(21)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.A159P(13)|p.P151T(13)|p.G154G(12)|p.P151P(12)|p.V157I(10)|p.R156H(10)|p.T155I(10)|p.P153fs*28(10)|p.R158G(10)|p.G154S(9)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.R156fs*14(8)|p.P153S(8)|p.P151A(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.P151fs*30(7)|p.T155A(7)|p.P152T(7)|p.0?(7)|p.P153P(7)|p.V157L(6)|p.G154D(6)|p.P151L(6)|p.P152fs*18(6)|p.P151R(6)|p.R158R(6)|p.P153L(6)|p.V157V(5)|p.A159fs*11(5)|p.P152fs*29(5)|p.R158fs*12(5)|p.T155T(5)|p.P152P(5)|p.A159S(4)|p.R158_A159insX(4)|p.P152Q(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.G154I(3)|p.P152R(3)|p.T150fs*16(3)|p.V157fs*13(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.R156C(2)|p.P153fs*26(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.T155S(2)|p.R158_A159delRA(2)|p.P152A(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157A(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*25(1)|p.Q144_G154del11(1)|p.V157_R158delVR(1)|p.P151del(1)|p.R156fs*20(1)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.G154C(1)|p.V157_M160delVRAM(1)|p.P152del(1)|p.S149fs*72(1)|p.T150_P151delTP(1)|p.T155fs*15(1)|p.T155_A161delTRVRAMA(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.P152_P153del(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.V157fs*23(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.P153F(1)|p.P153A(1)|p.P153H(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)		AGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAAT	0.618		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
POTEA	340441	broad.mit.edu	37	8	43155718	43155718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:43155717_43155717AT>A	uc003xpz.1	+	3	688	c.645_645AT>A	c.(643-645)aaafs	p.K215fs	POTEA_uc003xqa.1_Frame_Shift_Del_p.K215fs	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	215								p.K215N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAATGGTGAAATTTTTAATCA	0.318												
SOX9	6662	broad.mit.edu	37	17	70120488	70120489	+	In_Frame_Ins	INS	-	-	ACT			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:70120487_70120488C>CACT	uc002jiw.3	+	2	1861_1862	c.1489_1490C>CACT	c.(1489-1491)cac>CACTc	p.H497H		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	497					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCCCCCAGCACTGGGAACAA	0.594