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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KIR3DL2	3812	broad.mit.edu	37	19	55333038	55333038	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:55333038C>T	uc002qhl.4	+	4	737	c.674C>T	c.(673-675)tCt>tTt	p.S225F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.S225F|KIR3DL2_uc010esf.3_Missense_Mutation_p.S130F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.S225F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.S225F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	225					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GAGAAACCTTCTCTCTCAGCC	0.557000														88			114		0	0	0.870114	0	0
USP6	9098	broad.mit.edu	37	17	5041493	5041493	+	Missense_Mutation	SNP	G	A	A	rs145087393	byFrequency	TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr17:5041493G>A	uc002gau.1	+	20	3233	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	USP6_uc002gav.1_Missense_Mutation_p.D335N|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	335					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCCATGAACGATGACACCGT	0.577000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									76			55		0	0	0.870114	0	0
MMRN1	22915	broad.mit.edu	37	4	90856722	90856722	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr4:90856722A>G	uc003hst.3	+	5	1962	c.1891A>G	c.(1891-1893)Aag>Gag	p.K631E	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.K373E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	631					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATGGACAATAAGATGGACAA	0.363000														96			4		0	0	0.150653	0	0
MYH8	4626	broad.mit.edu	37	17	10310124	10310124	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr17:10310124C>T	uc002gmm.2	-	19	2149	c.2054_splice	c.e19-1	p.G685_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	685	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCCATTGCCCCTAAAAATAT	0.418000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					16			11		0	0	0.361761	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215804	140215804	+	Silent	SNP	A	G	G			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:140215804A>G	uc003lhq.2	+	0	1836	c.1836A>G	c.(1834-1836)caA>caG	p.Q612Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.Q612Q	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	624	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGTTGCAACCGGTGGCGG	0.647000														99			28		0	0	0.760397	0	0
MYOM2	9172	broad.mit.edu	37	8	2017587	2017587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr8:2017587C>T	uc003wpx.4	+	7	902	c.764C>T	c.(763-765)cCa>cTa	p.P255L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	255					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GACGAGGAACCATTCCGTTCG	0.507000														42			121		0	0	0.870114	0	0
CDH10	1008	broad.mit.edu	37	5	24535308	24535308	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:24535308C>T	uc003jgr.2	-	4	1233	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	243	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCTGGCCGCCCATGTCTTTG	0.473000										HNSCC(23;0.051)				59			24		0	0	0.681144	0	0
GHR	2690	broad.mit.edu	37	5	42711475	42711475	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:42711475G>A	uc021xxv.1	+	7	942	c.805_splice	c.e7+1	p.D269_splice	GHR_uc003jmt.3_Splice_Site_p.D262_splice|GHR_uc003jmu.3_Splice_Site_p.D262_splice|GHR_uc003jmv.2_Splice_Site_p.D262_splice|GHR_uc021xxw.1_Splice_Site_p.D262_splice|GHR_uc021xxx.1_Splice_Site_p.D262_splice|GHR_uc021xxy.1_Splice_Site_p.D262_splice|GHR_uc021xxz.1_Splice_Site_p.D262_splice|GHR_uc021xya.1_Splice_Site_p.D262_splice|GHR_uc021xyb.1_Splice_Site_p.D262_splice|GHR_uc021xyc.1_Splice_Site_p.D262_splice|GHR_uc011cpq.2_Splice_Site_p.D75_splice|GHR_uc021xyd.1_Splice_Site_p.D240_splice	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	262					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTGAAGAAGGTAAAAGAAAT	0.378000														61			25		0	0	0.667858	0	0
VCAN	1462	broad.mit.edu	37	5	82817123	82817123	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:82817123C>T	uc003kii.3	+	6	3354	c.2998C>T	c.(2998-3000)Ccc>Tcc	p.P1000S	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1000S|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1000	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTAGGTGAACCCTCTCAAGA	0.428000														48			16		0	0	0.557998	0	0
PTPRT	11122	broad.mit.edu	37	20	40877386	40877386	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr20:40877386G>A	uc002xkg.3	-	13	2437	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PTPRT_uc010ggj.3_Silent_p.I770I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	751					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGGCCAGCGATCACGCCAG	0.552000														49			19		0	0	0.624587	0	0
FAM135B	51059	broad.mit.edu	37	8	139163542	139163542	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr8:139163542G>A	uc003yuy.3	-	12	3347	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	FAM135B_uc003yux.3_Missense_Mutation_p.S960F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S621F|FAM135B_uc003yvb.3_Missense_Mutation_p.S621F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1059										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTCTGTTTGGAAGAGAATCC	0.522000										HNSCC(54;0.14)				23			28		0	0	0.740014	0	0
EML5	161436	broad.mit.edu	37	14	89093244	89093244	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr14:89093244C>T	uc021ryf.1	-	33	4927	c.4678G>A	c.(4678-4680)Ggg>Agg	p.G1560R	EML5_uc001xxf.3_Missense_Mutation_p.G347R|EML5_uc021ryg.1_Missense_Mutation_p.G1560R|EML5_uc001xxh.1_Missense_Mutation_p.G691R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1552						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCAGTAGCCCTTTTTTGCTA	0.468000														34			30		0	0	0.750413	0	0
DNAH9	1770	broad.mit.edu	37	17	11840675	11840675	+	Missense_Mutation	SNP	G	A	A	rs148626653		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr17:11840675G>A	uc002gne.3	+	65	12564	c.12496G>A	c.(12496-12498)Gat>Aat	p.D4166N	DNAH9_uc010coo.3_Missense_Mutation_p.D3384N|DNAH9_uc002gnf.3_Missense_Mutation_p.D478N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4166					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGTACATCGATGCTGAGCT	0.547000														97			24		0	0	0.706142	0	0
NRP1	8829	broad.mit.edu	37	10	33502319	33502319	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr10:33502319C>T	uc001iwx.4	-	8	2132	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	NRP1_uc001iwv.4_Missense_Mutation_p.A537T|NRP1_uc001iwy.4_Missense_Mutation_p.A537T|NRP1_uc009xlz.3_Missense_Mutation_p.A537T|NRP1_uc001iww.4_Missense_Mutation_p.A356T|NRP1_uc001iwz.2_Missense_Mutation_p.A537T|NRP1_uc001ixa.2_Missense_Mutation_p.A537T|NRP1_uc001ixb.2_Missense_Mutation_p.A537T|NRP1_uc001ixc.1_Missense_Mutation_p.A537T	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	537	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.A537V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCACCTTCGCCTTGCGTTTG	0.527000														54			98		0	0	0.870114	0	0
IL23R	149233	broad.mit.edu	37	1	67666516	67666516	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:67666516C>T	uc001ddo.3	+	4	673	c.588C>T	c.(586-588)gtC>gtT	p.V196V	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Silent_p.V153V|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Intron|IL23R_uc010opn.2_Silent_p.V41V|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Silent_p.V55V|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Silent_p.V55V|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Intron|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_5'UTR|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_5'UTR|IL23R_uc010opv.2_Silent_p.V55V|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Intron|IL23R_uc010opy.2_5'UTR|IL23R_uc010opz.2_Intron|IL23R_uc010oqa.2_5'UTR|IL23R_uc010oqb.2_Silent_p.V55V|IL23R_uc010oqc.2_Intron|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	196	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGTTTGGGTCCAAGCAGCAA	0.373000														77			39		0	0	0.870114	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353946	77353946	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr16:77353946C>T	uc002ffc.4	-	15	2751	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E366K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E474K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	778	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCTGGATTTCGATGCTTCGG	0.522000														40			18		0	0	0.608945	0	0
LMAN2	10960	broad.mit.edu	37	5	176764711	176764711	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:176764711G>A	uc003mge.3	-	3	746	c.509C>T	c.(508-510)aCt>aTt	p.T170I		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	170	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTACCTCAGTGGTCTCATC	0.547000														17			7		0	0	0.278610	0	0
HEATR8	374977	broad.mit.edu	37	1	55167796	55167796	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:55167796C>T	uc010ooe.1	+	19	3643	c.3319C>T	c.(3319-3321)Ctg>Ttg	p.L1107L	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.L625L|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.L309L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1107						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGCATCAACCTGTATGGGAA	0.622000														22			15		0	0	0.557998	0	0
THSD1P1	374500	broad.mit.edu	37	13	52865661	52865661	+	RNA	SNP	C	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr13:52865661C>A	uc001vgm.1	-	0		c.20G>T								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		AAGGATGACACAATTGAATGA	0.289000														39			9		0.000308642	0.00031617	0.479597	1	0
UBC	7316	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	G	G	rs111568648		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr17:21731075T>G	uc002gyy.3	+	1	502	c.377T>G	c.(376-378)cTg>cGg	p.L126R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	278	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCAAGCAGCTGGAAGATGGC	0.537000														65			3		0	0	0.115264	0	0
RYR2	6262	broad.mit.edu	37	1	237664122	237664122	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:237664122G>A	uc001hyl.1	+	20	2435	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	772	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			CGAATTAATGGACAACCTGTT	0.403000														107			41		0	0	0.847076	0	0
ODZ1	10178	broad.mit.edu	37	X	124030042	124030042	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chrX:124030042G>A	uc010nqy.3	-	1	330	c.266C>T	c.(265-267)aCa>aTa	p.T89I	ODZ1_uc011muj.2_Missense_Mutation_p.T89I|ODZ1_uc004euj.3_Missense_Mutation_p.T89I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	89	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GTGCATGTCTGTTTGGTAGCC	0.473000														51			80		0	0	0.870114	0	0
CLCA2	9635	broad.mit.edu	37	1	86916377	86916377	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:86916377G>A	uc001dlr.4	+	11	2278	c.2116G>A	c.(2116-2118)Ggg>Agg	p.G706R		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	706					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTATTCCAGGGAGTCATGC	0.423000														91			54		0	0	0.870114	0	0
COL7A1	1294	broad.mit.edu	37	3	48622192	48622192	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:48622192C>T	uc003ctz.2	-	33	4023	c.4022G>A	c.(4021-4023)gGa>gAa	p.G1341E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1341	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTCGAGGTCCTCGCTCTCC	0.667000														50			14		0	0	0.520397	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115903	15115903	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:15115903G>A	uc003bzm.1	-	13	2355	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	ZFYVE20_uc010hek.1_Missense_Mutation_p.P581S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	581	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGCTGCTTGGAACTGGGGAA	0.592000														11			19		0	0	0.608945	0	0
PLCE1	51196	broad.mit.edu	37	10	95995871	95995871	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr10:95995871G>A	uc001kjk.3	+	6	3048	c.2414G>A	c.(2413-2415)cGa>cAa	p.R805Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R805Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R497Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	805					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAAAAGCCGATGGCAGTAA	0.463000														4			9		0	0	0.361761	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90732959	90732959	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr10:90732959G>A	uc010qmx.1	+	10	1698	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	ACTA2_uc001kfq.3_Intron|FAS_uc010qna.2_Non-coding_Transcript	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	0							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TCCTTTCTGGGATAATTTCTG	0.433000														26			49		0	0	0.870114	0	0
WWC1	23286	broad.mit.edu	37	5	167850881	167850881	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:167850881C>T	uc003lzu.3	+	10	1711	c.1618C>T	c.(1618-1620)Ctc>Ttc	p.L540F	WWC1_uc003lzv.3_Missense_Mutation_p.L540F|WWC1_uc011den.2_Missense_Mutation_p.L540F|WWC1_uc003lzw.3_Missense_Mutation_p.L339F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	540					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGTTCCTCTCTCTCCTCCCC	0.632000														68			27		0	0	0.779181	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554138	140554138	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:140554138G>A	uc003lit.3	+	0	1896	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	574	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACCGAGCCGTTGCCCC	0.701000														44			74		0	0	0.870114	0	0
ZNF197	10168	broad.mit.edu	37	3	44684223	44684223	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:44684223G>T	uc003cnm.3	+	5	1807	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	534					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATCCACTCTGGGGAAAAACCC	0.433000														93			7		2.52707e-12	2.67572e-12	0.335167	1	0
HR	55806	broad.mit.edu	37	8	21982903	21982903	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr8:21982903G>C	uc003xas.3	-	4	2336	c.1671C>G	c.(1669-1671)caC>caG	p.H557Q	HR_uc003xat.3_Missense_Mutation_p.H557Q	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	557							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CACTGAGCAGGTGCTTGGCGA	0.687000														6			12		0	0	0.479597	0	0
FLG2	388698	broad.mit.edu	37	1	152328911	152328911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:152328911G>A	uc001ezw.4	-	2	1424	c.1351C>T	c.(1351-1353)Caa>Taa	p.Q451*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	451	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAAGTTTGACCTGAGCCA	0.478000														94			104		0	0	0.870114	0	0
PKHD1	5314	broad.mit.edu	37	6	51512867	51512867	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr6:51512867G>A	uc003pah.1	-	62	11636	c.11360C>T	c.(11359-11361)tCa>tTa	p.S3787L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3787					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGGAAGCTGAAATTGTCCA	0.423000														65			21		0	0	0.693898	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518355	113518355	+	Missense_Mutation	SNP	G	T	T	rs35449651	byFrequency	TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr7:113518355G>T	uc010ljy.1	-	3	2823	c.2792C>A	c.(2791-2793)gCa>gAa	p.A931E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	931			A -> E (in NIDDM; dbSNP:rs35449651).		glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TACAGCAATTGCCTGCTCATT	0.378000														75			52		1.53582e-20	1.65396e-20	0.870114	1	0
SH2D3C	10044	broad.mit.edu	37	9	130513556	130513556	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr9:130513556C>T	uc004bsc.3	-	3	721	c.579G>A	c.(577-579)ctG>ctA	p.L193L	SH2D3C_uc010mxo.3_Silent_p.L33L|SH2D3C_uc004bry.3_Silent_p.L35L|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.L125L|SH2D3C_uc004bsa.3_Silent_p.L36L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	193					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGATGAGTCCAGGATGTACT	0.517000														26			67		0	0	0.870114	0	0
OSBPL9	114883	broad.mit.edu	37	1	52250221	52250221	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:52250221G>A	uc001cst.3	+	19	2033	c.1850G>A	c.(1849-1851)gGg>gAg	p.G617E	OSBPL9_uc001css.3_Missense_Mutation_p.G604E|OSBPL9_uc009vza.3_Missense_Mutation_p.G582E|OSBPL9_uc001csu.3_Missense_Mutation_p.G609E|OSBPL9_uc001csv.3_Missense_Mutation_p.G434E|OSBPL9_uc001csw.3_Missense_Mutation_p.G586E|OSBPL9_uc001csy.3_Missense_Mutation_p.G421E|OSBPL9_uc001csz.3_Missense_Mutation_p.G421E|OSBPL9_uc001cta.3_Missense_Mutation_p.G489E|OSBPL9_uc001ctb.3_Missense_Mutation_p.G384E	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	599					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CCCTTCTATGGGGGCAAGAAG	0.403000														45			19		0	0	0.592651	0	0
UCKL1	54963	broad.mit.edu	37	20	62572210	62572210	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr20:62572210C>T	uc010gkn.3	-	11	1192	c.1117_splice	c.e11-1	p.D373_splice	UCKL1_uc011abm.2_Splice_Site_p.D358_splice|UCKL1_uc011abn.2_Splice_Site	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	373					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGACGCAGTCCTGTGGGGTGC	0.682000														22			31		0	0	0.827153	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242215	60242215	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr18:60242215C>T	uc002lip.4	+	12	2901	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.G437G	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	967					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACACCCCAGGCCCTGCCCCGA	0.617000														64			28		0	0	0.740014	0	0
TTN	7273	broad.mit.edu	37	2	179517255	179517255	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:179517255C>T	uc021vsy.1	-	155	31980	c.31755G>A	c.(31753-31755)ccG>ccA	p.P10585P	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11512	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTCTTTCGGAGCCTCTG	0.373000														67			26		0	0	0.769981	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42373218	42373218	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr15:42373218G>A	uc001zox.3	-	11	1166	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	357	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGATGCCACTGAAGTAGGTCA	0.612000														19			19		0	0	0.608945	0	0
MME	4311	broad.mit.edu	37	3	154861348	154861348	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:154861348G>A	uc010hvr.1	+	12	1516	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	MME_uc003fab.1_Silent_p.E435E|MME_uc003fac.1_Silent_p.E435E|MME_uc003fad.1_Silent_p.E435E|MME_uc003fae.1_Silent_p.E435E	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	435					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTGCTGGAGAGAGTAAACATG	0.403000														112			28		0	0	0.812448	0	0
DSG4	147409	broad.mit.edu	37	18	28991408	28991408	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr18:28991408G>A	uc002kwr.2	+	13	2544	c.2409G>A	c.(2407-2409)tcG>tcA	p.S803S	DSG4_uc002kwq.2_Silent_p.S784S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	784					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.C802Y(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTACTTCTCGGAGGTAATGC	0.473000														31			45		0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141732710	141732710	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr7:141732710G>A	uc003vwy.3	+	14	1723	c.1669_splice	c.e14+1	p.R557_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	557	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCACTCCCAGTAAGTCTTGG	0.373000														20			14		0	0	0.539581	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476715	102476715	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr14:102476715C>T	uc001yks.2	+	30	6488	c.6324C>T	c.(6322-6324)atC>atT	p.I2108I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2108					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGAGAGAATCCAGAAGATAA	0.463000														30			26		0	0	0.740014	0	0
RP1L1	94137	broad.mit.edu	37	8	10469525	10469525	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr8:10469525C>T	uc003wtc.3	-	3	2312	c.2083G>A	c.(2083-2085)Gcc>Acc	p.A695T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	695					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGCAGGCCCTTCGCCGC	0.617000														16			34		0	0	0.796494	0	0
PAQR8	85315	broad.mit.edu	37	6	52268794	52268794	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr6:52268794C>A	uc003pao.4	+	1	957	c.783C>A	c.(781-783)ttC>ttA	p.F261L	PAQR8_uc021zal.1_Missense_Mutation_p.F261L	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	261					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GCGCTTATTTCTTCTCCTGCC	0.572000														61			13		1.3612e-06	1.41745e-06	0.479597	1	0
FBXO31	79791	broad.mit.edu	37	16	87417077	87417077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr16:87417077G>A	uc002fjw.3	-	0	318	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	FBXO31_uc010vot.2_Intron	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	92	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGCAGACCTGGGCCAAGCTG	0.736000														7			5		0	0	0.248553	0	0
SLC22A11	55867	broad.mit.edu	37	11	64338456	64338456	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr11:64338456C>T	uc001oai.3	+	9	1969	c.1595C>T	c.(1594-1596)tCa>tTa	p.S532L	SLC22A11_uc009ypq.3_Missense_Mutation_p.S424L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	532					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCTAGGAAATCAACAGCAGCC	0.512000														63			32		0	0	0.812448	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656748	31656749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr20:31656748_31656749GG>AA	uc002wym.1	+	9	1118_1119	c.1118_1119GG>AA	c.(1117-1119)ggg>gAA	p.G373E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	373					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTCCCTAAGGGGACCCCTGAAT	0.594000														66			27		0	0	0.115264	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080465	3080465	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr16:3080465C>T	uc002ctf.4	-	3	792	c.747G>A	c.(745-747)cgG>cgA	p.R249R	CCDC64B_uc002cte.4_Silent_p.R42R|CCDC64B_uc010bta.1_3'UTR	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	249										breast(1)|endometrium(2)|large_intestine(1)	4						GGCTGTGCTCCCGCCGCTCCC	0.652000														9			13		0	0	0.500413	0	0
MUC16	94025	broad.mit.edu	37	19	9073897	9073897	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:9073897C>T	uc002mkp.3	-	2	13753	c.13549G>A	c.(13549-13551)Gag>Aag	p.E4517K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4519	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E4517K(3)|p.E150K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTATCTCATTTGATGGA	0.433000														49			34		0	0	0.840704	0	0
LSG1	55341	broad.mit.edu	37	3	194379705	194379705	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:194379705G>A	uc003fui.3	-	6	1055	c.740C>T	c.(739-741)cCc>cTc	p.P247L		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	247					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACCATTCAGGGGAATGGCTCC	0.458000														161			48		0	0	0.870114	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911066	62911066	+	Silent	SNP	A	G	G			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr11:62911066A>G	uc021qkp.1	-	0	628	c.186T>C	c.(184-186)aaT>aaC	p.N62N		NM_001136506	NP_001129978			Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA.											kidney(1)|stomach(1)	2						TCCCGGTATCATTGTCAGACA	0.522000														20			8		0	0	0.335167	0	0
KCNA1	3736	broad.mit.edu	37	12	5021217	5021217	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr12:5021217G>A	uc001qnh.3	+	1	1778	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	KCNA1_uc021qts.1_Missense_Mutation_p.E225K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	225					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCATCGTGGAAACGCTGTG	0.512000														14			42		0	0	0.847076	0	0
ZNF221	7638	broad.mit.edu	37	19	44470724	44470724	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:44470724C>T	uc002oxx.2	+	5	1398	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	ZNF221_uc010ejb.1_Missense_Mutation_p.S357F|ZNF221_uc010xws.1_Missense_Mutation_p.S357F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S357F(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AATAGTCATTCCATGGTCCAC	0.413000														81			102		0	0	0.870114	0	0
PTGIR	5739	broad.mit.edu	37	19	47124917	47124917	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:47124917T>G	uc002pex.3	-	2	894	c.781A>C	c.(781-783)Acc>Ccc	p.T261P		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	261					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACAGCCTGGGTGAAGCAGCGG	0.637000														16			29		0	0	0.769981	0	0
OR13H1	347468	broad.mit.edu	37	X	130678233	130678233	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chrX:130678233C>T	uc011muw.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCTACTTCTTCCTTAGTAACC	0.433000														32			52		0	0	0.870114	0	0
LTBP2	4053	broad.mit.edu	37	14	74972782	74972782	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr14:74972782C>T	uc001xqa.3	-	27	4533	c.4146G>A	c.(4144-4146)caG>caA	p.Q1382Q		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1382	EGF-like 16; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTGCCCCTCCTGGGCATCGT	0.627000														63			62		0	0	0.870114	0	0
CORIN	10699	broad.mit.edu	37	4	47663875	47663875	+	Splice_Site	SNP	T	C	C			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr4:47663875T>C	uc003gxm.3	-	12	1683	c.1590_splice	c.e12-1	p.R530_splice	CORIN_uc011bzf.2_Splice_Site_p.R391_splice|CORIN_uc011bzg.2_Splice_Site_p.R463_splice|CORIN_uc011bzh.1_Splice_Site_p.R493_splice|CORIN_uc011bzi.1_Intron	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	530	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACAATGCCCTAGATGAACAA	0.408000														17			4		0	0	0.217242	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239263	55239263	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:55239263C>T	uc002qgu.1	+	3	560	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	181	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTCAACTATTCCATGGGTCCC	0.572000														56			69		0	0	0.870114	0	0
GFRAL	389400	broad.mit.edu	37	6	55216368	55216368	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr6:55216368G>A	uc003pcm.1	+	4	774	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	230						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGCCAAAATGATGAATTATG	0.423000														28			10		0	0	0.411799	0	0
NLRC5	84166	broad.mit.edu	37	16	57060787	57060787	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr16:57060787C>T	uc021tiu.1	+	4	2059	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	NLRC5_uc021tit.1_Silent_p.F644F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F449F|NLRC5_uc021tiw.1_Silent_p.F449F|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	644					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCACAATTTCCCACTGACCT	0.587000														68			70		0	0	0.870114	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592606	2592606	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr11:2592606G>A	uc001lwn.3	+	3	764	c.656G>A	c.(655-657)gGg>gAg	p.G219E	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.G92E	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	219					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCTCCAAGGGGCAGGTGTTT	0.677000														63			30		0	0	0.788014	0	0
ZNF761	388561	broad.mit.edu	37	19	53959186	53959187	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:53959186_53959187CC>GT	uc010eqp.3	+	6	1883_1884	c.1425_1426CC>GT	c.(1423-1428)ttccgt>ttGTgt	p.475_476FR>LC	ZNF761_uc010ydy.2_Missense_Mutation_p.421_422FR>LC|ZNF761_uc002qbt.2_Missense_Mutation_p.421_422FR>LC	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACAAAGCTTTCCGTTTCAAATC	0.421000														72			38		0	0	0.115264	0	0
TSPAN14	81619	broad.mit.edu	37	10	82272022	82272022	+	Silent	SNP	T	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr10:82272022T>A	uc001kcj.4	+	5	680	c.573T>A	c.(571-573)ccT>ccA	p.P191P	TSPAN14_uc009xss.3_Silent_p.P68P|TSPAN14_uc001kci.4_Silent_p.P174P	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.	191						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGCCAGATCCTGCGGTGAGTT	0.597000														6			21		0	0	0.639603	0	0
MMP12	4321	broad.mit.edu	37	11	102745631	102745631	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr11:102745631C>T	uc001phk.3	-	0	134	c.37G>A	c.(37-39)Gct>Act	p.A13T		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	13					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCTCCAGAAGCAGTGGCCTGC	0.408000														10			5		0	0	0.278610	0	0
GABRA5	2558	broad.mit.edu	37	15	27128562	27128562	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr15:27128562C>T	uc001zbd.2	+	5	887	c.355C>T	c.(355-357)Cct>Tct	p.P119S	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.P119S	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	119					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCAGCGCCTCCCTCTCAACAA	0.532000														55			59		0	0	0.870114	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653532	121653532	+	Missense_Mutation	SNP	T	A	A	rs144360433	byFrequency	TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr7:121653532T>A	uc003vjy.3	+	11	4827	c.4432T>A	c.(4432-4434)Tct>Act	p.S1478T	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1478					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATACTCACTATCTGAGAATTC	0.393000														61			56		0	0	0.870114	0	0
CCKBR	887	broad.mit.edu	37	11	6291015	6291015	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr11:6291015A>T	uc001mcp.3	+	1	523	c.268A>T	c.(268-270)Aat>Tat	p.N90Y	CCKBR_uc001mcq.3_Missense_Mutation_p.N18Y|CCKBR_uc001mcr.3_Missense_Mutation_p.N90Y|CCKBR_uc001mcs.3_Missense_Mutation_p.N90Y	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	90					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GACTGTCACCAATGCCTTCCT	0.552000														117			50		0	0	0.870114	0	0
CALCR	799	broad.mit.edu	37	7	93108821	93108821	+	Splice_Site	SNP	T	C	C			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr7:93108821T>C	uc003umv.2	-	5	406	c.106_splice	c.e5-1	p.H36_splice	CALCR_uc003umt.1_Splice_Site|CALCR_uc003ums.1_Splice_Site|CALCR_uc022ahi.1_Splice_Site_p.H18_splice|CALCR_uc003umw.2_Splice_Site_p.H18_splice	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	18					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGTTGGGTGCTGTATTAAAAA	0.363000														67			54		0	0	0.870114	0	0
WDR3	10885	broad.mit.edu	37	1	118495284	118495284	+	Splice_Site	SNP	T	C	C			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:118495284T>C	uc010oxe.1	+	19	2217	c.2151_splice	c.e19+1	p.M717_splice	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	717						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GAAAGGGAGATGGTAAGAACT	0.448000														68			27		0	0	0.804634	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														54			22		0	0	0.654019	0	0
LY6H	4062	broad.mit.edu	37	8	144239833	144239833	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr8:144239833G>A	uc003yxt.3	-	2	1118	c.371C>T	c.(370-372)tCa>tTa	p.S124L	LY6H_uc011lka.2_Missense_Mutation_p.S86L|LY6H_uc011lkb.2_Missense_Mutation_p.S107L|LY6H_uc011lkc.2_Missense_Mutation_p.S107L			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	86					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGATAGTCTGAGAAAAAGTG	0.547000														107			5		0	0	0.217242	0	0
TEAD4	7004	broad.mit.edu	37	12	3147221	3147221	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr12:3147221A>G	uc010sej.2	+	10	1277	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	TEAD4_uc010sek.2_Missense_Mutation_p.T286A|TEAD4_uc001qln.3_Missense_Mutation_p.T200A	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	329					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CATGATCATCACCTGCTCCAC	0.587000														34			21		0	0	0.608945	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117561	117561	+	RNA	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chrGL000205.1:117561C>T	uc002kgk.4	+	0		c.939C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCATCCCGTCCGCAGCCGTGG	0.617000														23			4		0	0	0.184627	0	0
DSG4	147409	broad.mit.edu	37	18	28971146	28971146	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr18:28971146G>A	uc002kwr.2	+	6	925	c.790G>A	c.(790-792)Gat>Aat	p.D264N	DSG4_uc002kwq.2_Missense_Mutation_p.D264N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	264	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGACGTCAACGATAATTTCCC	0.388000														48			52		0	0	0.870114	0	0
EDNRA	1909	broad.mit.edu	37	4	148460990	148460990	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr4:148460990G>A	uc003iky.3	+	5	1452	c.922G>A	c.(922-924)Gtt>Att	p.V308I	EDNRA_uc011cid.2_Missense_Mutation_p.V83I|EDNRA_uc010ipg.2_Missense_Mutation_p.V199I|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	308					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GGCAAAAACAGTTTTCTGCTT	0.363000														55			41		0	0	0.870114	0	0
CP	1356	broad.mit.edu	37	3	148924059	148924059	+	Silent	SNP	C	T	T	rs142503847		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:148924059C>T	uc003ewy.4	-	5	1357	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Silent_p.G149G|CP_uc003ewz.3_Silent_p.G368G|CP_uc010hvf.1_Silent_p.G94G	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	368					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAACATGCTTCCCACGGATAT	0.423000														53			59		0	0	0.870114	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	T	T	rs145610800		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTATTTTTTTCGCATTGCAGG	0.363000														119			17		0	0	0.608945	0	0
SPEF1	25876	broad.mit.edu	37	20	3759160	3759160	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr20:3759160C>T	uc002wjj.3	-	5	679	c.511G>A	c.(511-513)Gcg>Acg	p.A171T		NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN	Homo sapiens sperm flagellar 1 (SPEF1), mRNA.	171						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CGGTTATACGCTGGAGGCCGA	0.672000														5			10		0	0	0.387290	0	0
RGNEF	64283	broad.mit.edu	37	5	73168939	73168939	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:73168939C>T	uc010izf.3	+	21	2858	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	RGNEF_uc011csq.2_Silent_p.F894F|RGNEF_uc021yam.1_Silent_p.F894F|RGNEF_uc011csr.2_Silent_p.F581F	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	894	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATAAAATTTTCCCCTGTTTAG	0.468000														16			10		0	0	0.411799	0	0
TUBB8	347688	broad.mit.edu	37	10	93851	93851	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr10:93851C>T	uc001ifi.2	-	3	481	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	161					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.P160Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATGATCCTGTCTGGGTACTCC	0.597000														75			33		0	0	0.870114	0	0
ZNF792	126375	broad.mit.edu	37	19	35449284	35449284	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:35449284C>T	uc002nxh.1	-	3	1862	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCTATTGAGGCTGGAGCTCTG	0.493000														30			61		0	0	0.870114	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	A	A	rs1851732	by1000genomes	TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr13:25161457G>A	uc001upm.3	+	7		c.981G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTATTTATTCGATTCGTGGTA	0.378000														42			4		0	0	0.217242	0	0
MYT1L	23040	broad.mit.edu	37	2	1926514	1926514	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:1926514C>T	uc002qxe.3	-	9	1854	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	MYT1L_uc002qxd.3_Missense_Mutation_p.E343K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	343					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGTTGGTCTCACTGAGCTTC	0.557000														37			7		0	0	0.278610	0	0
FBXW8	26259	broad.mit.edu	37	12	117461999	117461999	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr12:117461999C>T	uc001twg.1	+	8	1497	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	FBXW8_uc001twf.1_Missense_Mutation_p.S406F	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	472							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CTGTCGCTCTCCGCCCATCAG	0.577000														11			43		0	0	0.870114	0	0
ACSS3	79611	broad.mit.edu	37	12	81503432	81503432	+	Silent	SNP	T	C	C			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr12:81503432T>C	uc001szl.1	+	1	496	c.405T>C	c.(403-405)agT>agC	p.S135S	ACSS3_uc001szm.1_Silent_p.S134S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	135						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCTATGACAGTCCTGTTACAA	0.313000														15			43		0	0	0.870114	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780306	121780306	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr5:121780306G>A	uc003ksw.1	+	7	1677	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E49K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E125K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E538K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E125K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E87K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E125K|SNCAIP_uc003kta.1_Missense_Mutation_p.E123K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E185K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E431K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E7K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	491					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCACGCTGGGGAAAAGCCCTC	0.537000														53			52		0	0	0.870114	0	0
MEGF8	1954	broad.mit.edu	37	19	42839252	42839252	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:42839252G>A	uc002otl.4	+	3	1259	c.624G>A	c.(622-624)gaG>gaA	p.E208E	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	208						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCTGTGGGAGAACCAGGGGG	0.642000														15			13		0	0	0.520397	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					72			34		0	0	0.827153	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558324	53558324	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:53558324G>A	uc021onn.1	-	6	1101	c.933C>T	c.(931-933)atC>atT	p.I311I	SLC1A7_uc021onm.1_Silent_p.I239I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I311I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	311						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCAGGGGCAGGATAAAGAGCC	0.597000														44			24		0	0	0.706142	0	0
KNG1	3827	broad.mit.edu	37	3	186459342	186459342	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr3:186459342C>T	uc011bsa.2	+	9	1391	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	KNG1_uc003fqr.3_Missense_Mutation_p.S386L|KNG1_uc021xil.1_Missense_Mutation_p.S350L	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	386					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAGGTTTTTCACCTTTCCGA	0.383000														27			39		0	0	0.870114	0	0
KYNU	8942	broad.mit.edu	37	2	143790836	143790836	+	Silent	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:143790836C>T	uc010fnm.3	+	12	1203	c.987C>T	c.(985-987)ttC>ttT	p.F329F	KYNU_uc002tvl.3_Silent_p.F329F	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	329					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TCTGTGGATTCCGAATTTCAA	0.373000														131			139		0	0	0.870114	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270485	153270485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr1:153270485G>A	uc001fbn.1	-	6	1026	c.973C>T	c.(973-975)Cct>Tct	p.P325S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	325					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGCCCAGGGGACAGGATG	0.597000														261			58		0	0	0.870114	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041502	38041502	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr22:38041502G>T	uc003ati.3	+	9	1647	c.909G>T	c.(907-909)gaG>gaT	p.E303D	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.E303D|SH3BP1_uc003ath.1_Missense_Mutation_p.E303D|SH3BP1_uc003atj.1_Missense_Mutation_p.E239D|SH3BP1_uc003atk.1_Missense_Mutation_p.E217D|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	303	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TGCTTTCTGAGGGCATGAAGG	0.647000														59			30		1.42033e-22	1.54277e-22	0.796494	1	0
CDK12	51755	broad.mit.edu	37	17	37665992	37665992	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr17:37665992C>T	uc010cvv.3	+	6	3230	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	CDK12_uc010wef.1_Missense_Mutation_p.R881W|CDK12_uc002hrw.4_Missense_Mutation_p.R882W	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	882	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.R882R(2)|p.R882L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGACTTGCTCGGCTCTATAA	0.348000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				72			41		0	0	0.870114	0	0
DSG3	1830	broad.mit.edu	37	18	29054229	29054229	+	Silent	SNP	C	T	T	rs142612259	byFrequency	TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr18:29054229C>T	uc002kws.3	+	14	2356	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	DSG3_uc002kwt.3_Silent_p.F31F	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	749					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCAGGATTCGGAGCAGCCA	0.537000														31			25		0	0	0.681144	0	0
RECK	8434	broad.mit.edu	37	9	36118962	36118962	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr9:36118962C>T	uc003zyv.3	+	17	2548	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	RECK_uc003zyw.3_Missense_Mutation_p.P693L|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	821						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557000														55			27		0	0	0.729181	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963375	73963375	+	Silent	SNP	G	T	T			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chrX:73963375G>T	uc004eby.3	-	2	1634	c.1017C>A	c.(1015-1017)ccC>ccA	p.P339P		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	339					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAGACGCTGGGAAAAAAGT	0.458000														22			39		3.61848e-18	3.8638e-18	0.834066	1	0
GABRB3	2562	broad.mit.edu	37	15	26806278	26806278	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr15:26806278C>A	uc001zbb.3	-	8	1152	c.1049G>T	c.(1048-1050)cGg>cTg	p.R350L	GABRB3_uc021sgg.1_Missense_Mutation_p.R223L|GABRB3_uc021sgh.1_Missense_Mutation_p.R209L|GABRB3_uc001zaz.3_Missense_Mutation_p.R294L|GABRB3_uc001zba.3_Missense_Mutation_p.R294L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	294					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R294L(2)|p.R350L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGGTCTCCCGAAGGTGGGT	0.478000														125			5		1.23904e-05	1.27966e-05	0.184627	1	0
CHN1	1123	broad.mit.edu	37	2	175742832	175742832	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:175742832G>A	uc002uji.3	-	5	626	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CHN1_uc010zeq.2_Silent_p.F95F|CHN1_uc002ujj.3_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	95	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTAGAGCCTGAAGTTTCTGG	0.383000			T	TAF15	extraskeletal myxoid chondrosarcoma									10			17		0	0	0.624587	0	0
PDS5B	23047	broad.mit.edu	37	13	33306319	33306319	+	Silent	SNP	G	A	A			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr13:33306319G>A	uc010abf.3	+	19	2391	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	735					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.A735A(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GTATCCATGCGATATTTTCTA	0.313000														30			15		0	0	0.539581	0	0
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	221	---	---	7	---					
CEP290	80184	broad.mit.edu	37	12	88512305	88512305	+	Frame_Shift_Del	DEL	T	-	-	rs77980773		TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr12:88512305delT	uc001tar.3	-	16	2010	c.1666delA	c.(1666-1668)attfs	p.I556fs	CEP290_uc001tat.3_Frame_Shift_Del_p.I318fs|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	556					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTGACGAATTTTTTTTTTC	0.308													---	4	---	---	2	---					
ZNF382	84911	broad.mit.edu	37	19	37117823	37117823	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr19:37117823delC	uc002oek.3	+	4	1137	c.1024delC	c.(1024-1026)catfs	p.H342fs	ZNF382_uc010efa.3_Frame_Shift_Del_p.H293fs|ZNF382_uc010efb.3_Frame_Shift_Del_p.H341fs|ZNF382_uc002oel.3_Frame_Shift_Del_p.H341fs	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	342	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTCACCCTTCATGAGAAAAC	0.448													---	46	---	---	95	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A3DN-01A-11D-A20D-08	TCGA-BF-A3DN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32441c2f-4c8e-45de-b036-06334326c86e	c7e56ac3-77aa-41c3-8e87-df6582f27643	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	722	---	---	7	---					
