Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMOD2	29767	broad.mit.edu	37	15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	uc002abk.3	+	1	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_uc002abl.4_Missense_Mutation_p.Q31R|TMOD2_uc010bfb.3_5'UTR	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	31					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.Q31R(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418000													29	132					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	uc021wam.1	+	10	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_uc010gbw.1_Missense_Mutation_p.D299N|PLCB4_uc010gbx.3_Missense_Mutation_p.D299N|PLCB4_uc021wal.1_Missense_Mutation_p.D299N|PLCB4_uc002wnh.3_Missense_Mutation_p.D146N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	299					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D299N(3)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408000													12	226					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	uc010fnm.3	+	5	622	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_uc002tvk.3_Missense_Mutation_p.A136S|KYNU_uc002tvl.3_Missense_Mutation_p.A136S	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	136					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	p.A136S(3)		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)	CCTAATGAATGCTTTGACTGT	0.284000													4	144					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348254	150348254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	uc010ntg.2	+	1	337	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	GPR50_uc011myc.2_Missense_Mutation_p.V67M	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	67					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.V67M(4)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483000													16	437					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742648	102742648	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	uc001phk.3	-	2	482	c.385G>T	c.(385-387)Gat>Tat	p.D129Y		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	129					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	p.D129Y(2)		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)	TAGTCAACATCCTCACGGTTC	0.393000													10	44					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													4	20					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131498747	131498747	+	Silent	SNP	C	C	T	rs144882598	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:131498747C>T	uc010tbm.2	+	13	1990	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	GPR133_uc001uit.4_Silent_p.I445I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577000													19	106					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	uc002zqf.1	-	3	473	c.236A>C	c.(235-237)cAg>cCg	p.Q79P		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	79					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.Q79P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657000													5	68					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	uc011cif.2	+	4	911	c.911G>A	c.(910-912)gGc>gAc	p.G304D	PRSS48_uc011cig.2_Missense_Mutation_p.G161D	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	304					proteolysis	extracellular region	serine-type endopeptidase activity	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502000													5	141					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661539	52661539	+	Silent	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr13:52661539T>G	uc001vge.3	-	14	1467	c.1327A>C	c.(1327-1329)Aga>Cga	p.R443R		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	443							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R500R(1)|p.R443R(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCATTACTTCTTAGCTCTTGT	0.383000													37	118					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	uc001wjv.3	-	22	3034	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	988					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.D988G(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527000													61	253					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195519	3195519	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:3195519C>T	uc002fvh.1	-	0	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	120				A -> D (in Ref. 6; AAA18347).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A120T(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TAGGCCATGGCGGTCAGCAGG	0.612000													9	120					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352939	58352939	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr19:58352939G>A	uc021vcp.1	+	2	1132	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Silent_p.G249G|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	299					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G299G(1)									AACCTTATGGGTGTGAAGAAT	0.403000													5	8					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108347996	108347996	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	uc003dxd.3	+	7	1091	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_uc003dxf.1_Silent_p.E223E|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.E223E	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	223					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E223E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289000													15	168					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151738393	151738393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:151738393C>T	uc010ipj.3	-	30	5432	c.5188G>A	c.(5188-5190)Gca>Aca	p.A1730T	LRBA_uc003ilt.4_Missense_Mutation_p.A389T|LRBA_uc003ilu.4_Missense_Mutation_p.A1730T	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1730						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.A1730T(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACTTTTTTGCTGCAACAATG	0.363000													16	108					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674081	35674081	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:35674081G>A	uc003zxo.4	+	0	167	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	42	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.R42Q(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTGCCCCGGATGCAGGAG	0.622000													15	81					0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28294583	28294583	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294583A>T	uc003nlc.3	-	3	970	c.581T>A	c.(580-582)aTc>aAc	p.I194N	ZNF323_uc003nld.3_Missense_Mutation_p.I194N|ZNF323_uc010jra.3_Missense_Mutation_p.I194N|ZNF323_uc003nla.3_Missense_Mutation_p.I194N|ZNF323_uc003nlb.3_Missense_Mutation_p.I35N|ZNF323_uc010jrb.3_Missense_Mutation_p.I35N|ZNF323_uc021yrs.1_Missense_Mutation_p.I194N|ZNF323_uc021yrt.1_Missense_Mutation_p.I35N	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I194N(2)|p.I194I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTCTTTTAAGATTTCTTGCTT	0.363000													16	172					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106816011	106816011	+	RNA	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:106816011A>C	uc021ser.1	-	558		c.15716T>G								Parts of antibodies, mostly variable regions.																		CACCAGCTGCACCTGACACTG	0.532000													7	19					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	uc010lep.3	+	10	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.Y36C|C7orf63_uc011khj.2_Missense_Mutation_p.Y343C|C7orf63_uc011khk.2_5'Flank	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	361							binding	p.Y361C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299000													5	90					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	uc003pbh.2	-	4	734	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_uc003pbi.2_Missense_Mutation_p.M82L|ICK_uc003pbj.3_Missense_Mutation_p.M82L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	82	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.M82L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323000													16	68					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61144866	61144866	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:61144866C>T	uc003xtz.1	-	3	738	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CA8_uc003xua.1_Missense_Mutation_p.A164T	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	164					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.A164T(2)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GCAATGATGGCGATTCCGTGC	0.433000													6	146					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883495	74883495	+	Missense_Mutation	SNP	G	G	A	rs150167315		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:74883495G>A	uc001owb.3	+	6	1248	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	SLCO2B1_uc010rrq.2_Missense_Mutation_p.G30S|SLCO2B1_uc010rrr.2_Missense_Mutation_p.G141S|SLCO2B1_uc010rrs.2_Missense_Mutation_p.G169S|SLCO2B1_uc001owc.3_Missense_Mutation_p.G58S|SLCO2B1_uc001owd.3_Missense_Mutation_p.G263S	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	285					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.G285S(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CATCGCTGCCGGTGCAGTGGC	0.562000													4	118					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	uc001yqg.3	-	3	1002	c.598G>A	c.(598-600)Gag>Aag	p.E200K	JAG2_uc001yqh.3_Missense_Mutation_p.E200K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	200	DSL.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity	p.E200K(3)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627000													6	23					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:45988802G>A	uc003cpc.1	+	1	910	c.829G>A	c.(829-831)Gca>Aca	p.A277T	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.A277T|CXCR6_uc021www.1_Missense_Mutation_p.A277T	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	277					viral genome replication	integral to plasma membrane	coreceptor activity	p.A277T(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507000													15	122					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	uc003vjy.3	+	11	3578	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	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.	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(4)		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						CTTTCAATGAGATGGTTTACC	0.348000													32	195					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14748515	14748515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:14748515C>T	uc010neq.3	+	8	2027	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	GLRA2_uc004cwe.4_Nonsense_Mutation_p.R423*|GLRA2_uc011mio.2_Nonsense_Mutation_p.R334*|GLRA2_uc010nep.3_Nonsense_Mutation_p.R423*|GLRA2_uc011mip.2_Nonsense_Mutation_p.R401*	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	423					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R423*(5)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CACGATATCTCGAGCTGCCTT	0.473000													50	71					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081448	194081448	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:194081448C>T	uc003ftt.3	-	2	468	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	LRRC15_uc003ftu.3_Missense_Mutation_p.A109T|LRRC15_uc021xiy.1_Missense_Mutation_p.A109T	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	109						integral to membrane		p.A109T(3)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGTTGGCGAGGCTGAGA	0.597000													30	105					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	uc001ynf.2	-	5	767	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	221	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.D221Y(2)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597000													3	33					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	uc010rji.2	-	0	36	c.36C>A	c.(34-36)ttC>ttA	p.F12L	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12L(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398000													6	235					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	T	C	rs139643347	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													5	91					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225170	107225170	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	uc004enn.1	-	1	281	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	63								p.V63A(4)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597000													16	171					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	Missense_Mutation	SNP	C	C	T	rs143443709	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:141070139C>T	uc010ncq.3	+	3	1219	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													5	92					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353102	219353102	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	uc010fvs.1	-	14	1928	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_uc002vie.2_Silent_p.L505L|USP37_uc010zkf.1_Silent_p.L505L|USP37_uc002vif.2_Silent_p.L505L|USP37_uc002vig.2_Silent_p.L433L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	505					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L505L(3)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338000													22	151					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:186276100A>C	uc001gru.4	+	6	1300	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T376P|PRG4_uc009wyl.3_Missense_Mutation_p.T324P|PRG4_uc009wym.3_Missense_Mutation_p.T283P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000													7	59					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173068	173068	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:173068C>T	uc003jak.2	+	14	3089	c.3039C>T	c.(3037-3039)tgC>tgT	p.C1013C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1013	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.C204C(1)|p.C1013C(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTTTGCTGCGGGAGGAAGA	0.512000													24	148					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866139	100866139	+	Missense_Mutation	SNP	G	G	A	rs142957181		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:100866139G>A	uc003yiv.3	+	55	10708	c.10597G>A	c.(10597-10599)Gtg>Atg	p.V3533M	VPS13B_uc003yiw.3_Missense_Mutation_p.V3508M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3533					protein transport			p.V3533M(2)|p.V3508M(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCGGTTATACGTGGAAGACAC	0.408000													6	319					0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	uc010iei.1	+	7	878	c.632T>A	c.(631-633)cTa>cAa	p.L211Q	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.L163Q|PACRGL_uc011bxm.2_Missense_Mutation_p.L110Q|PACRGL_uc003gqa.3_Intron|PACRGL_uc010iek.3_Missense_Mutation_p.L163Q|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	163							binding	p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333000													57	362					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867346	107867346	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:107867346C>T	uc001dvh.4	+	2	1407	c.689C>T	c.(688-690)gCg>gTg	p.A230V	NTNG1_uc001dvc.4_Missense_Mutation_p.A230V|NTNG1_uc010out.2_Missense_Mutation_p.A230V|NTNG1_uc001dvf.4_Missense_Mutation_p.A230V|NTNG1_uc001dvd.1_Missense_Mutation_p.A230V	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	230	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A230V(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACAGGTTCGCGTTTTTTGCT	0.428000													12	89					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	uc001ljf.1	-	10	2667	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Nonsense_Mutation_p.E350*|DHX32_uc001ljg.1_Nonsense_Mutation_p.E726*|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	726						mitochondrion|nucleus	ATP binding|helicase activity	p.E726*(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473000													11	90					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002676	119002676	+	Silent	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	uc001pvp.3	+	5	904	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_uc021qrj.1_Silent_p.R220R|HINFP_uc001pvq.3_Silent_p.R220R|HINFP_uc001pvr.3_5'UTR	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	220					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R220R(3)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557000													21	120					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989612	47989612	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:47989612C>T	uc002xur.1	-	1	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	KCNB1_uc002xus.1_Missense_Mutation_p.E829K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	829					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E829K(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCACTTTTCCTGACCACTG	0.522000													7	162					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575015	33575015	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:33575015G>A	uc002xbi.2	+	15	1515	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	358	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.A400T(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GATCGTGGGCGCCCTCCTGCA	0.587000													14	166					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163122355	163122355	+	Silent	SNP	C	C	T	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	uc001gcn.3	-	3	707	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_uc021pdu.1_Silent_p.T15T|RGS5_uc021pdt.1_Silent_p.T123T|RGS5_uc009wvb.3_Silent_p.T15T	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	123	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T123T(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473000													126	555					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	uc003lif.2	+	0	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.R65W|PCDHAC2_uc003lid.3_Missense_Mutation_p.R65W	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R65W(1)		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)			GCGCCTGTTCCGGGTGGCGTC	0.617000													9	265					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367247	248367247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:248367247G>A	uc010pzg.2	+	0	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293H(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.473000													19	156					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863081	56863081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56863081T>C	uc001sli.4	+	1	419	c.344T>C	c.(343-345)aTt>aCt	p.I115T	SPRYD4_uc010sqo.1_Missense_Mutation_p.I103T	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	115	B30.2/SPRY.					nucleus		p.I115T(2)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GATAGCTGCATTGGTGTTGAT	0.567000													52	256					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	C	G	rs9904221	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000													6	51					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393000													4	45					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132203595	132203595	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:132203595C>T	uc011ecf.2	+	20	2231	c.2211C>T	c.(2209-2211)taC>taT	p.Y737Y		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	737	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Y685Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGAGTTACGGGTTCCTCT	0.383000													32	179					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	uc010uwo.1	+	0	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	54					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C54S(2)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657000													24	130					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	uc003kql.4	-	10	2068	c.1652C>G	c.(1651-1653)gCt>gGt	p.A551G	MCC_uc003kqj.4_Missense_Mutation_p.A361G|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.A361G|MCC_uc010jcd.1_Missense_Mutation_p.A323G	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	361					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418000													26	102					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1980396	1980396	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:1980396C>T	uc003gdz.4	+	21	4034	c.3858C>T	c.(3856-3858)gaC>gaT	p.D1286D	WHSC1_uc003geb.4_Silent_p.D1286D|WHSC1_uc003gec.4_Silent_p.D1286D|WHSC1_uc003ged.4_Silent_p.D1286D|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.D505D|WHSC1_uc011bvh.2_Silent_p.D347D|WHSC1_uc010icf.3_Silent_p.D634D	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1286					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.D1286D(4)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATCATTGTGACGTGTGTGGCA	0.522000			T	IGH@	MM								25	100					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40698128	40698128	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:40698128C>T	uc001zls.3	+	0	443	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	IVD_uc001zlq.2_Missense_Mutation_p.P37S	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	p.P34S(1)|p.P37S(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTCGCTTTTGCCCGTGGACGA	0.672000													3	42					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:41800403A>C	uc010lxb.3	-	14	2888	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_uc010lxc.3_Missense_Mutation_p.S782A|KAT6A_uc003xon.4_Missense_Mutation_p.S782A|KAT6A_uc010lxd.3_Missense_Mutation_p.S782A	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S782A(2)									ACAGAGTTGGACACTATGACT	0.488000													14	213					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:48318519A>T	uc003toq.2	+	17	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313000													7	200					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:1643252A>G	uc009ycy.1	-	0	117	c.30T>C	c.(28-30)tgT>tgC	p.C10C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	104						keratin filament		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687000													9	49					0	0	1	0	0
C14orf178	283579	broad.mit.edu	37	14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	uc021rwv.1	+	0	278	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	SNW1_uc001xuf.3_Intron|SNW1_uc010tvm.2_Intron|SNW1_uc010tvn.1_Intron|C14orf178_uc001xuh.2_5'UTR	NM_174943	NP_001167449	Q8N769	CN178_HUMAN	Homo sapiens chromosome 14 open reading frame 178 (C14orf178), transcript variant 1, mRNA.	22								p.Q22R(2)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587000													19	98					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55521763	55521763	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	uc001cyf.2	+	5	1259	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	299	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.A299A(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692000													3	11					0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28294582	28294582	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294582G>T	uc003nlc.3	-	3	971	c.582C>A	c.(580-582)atC>atA	p.I194I	ZNF323_uc003nld.3_Silent_p.I194I|ZNF323_uc010jra.3_Silent_p.I194I|ZNF323_uc003nla.3_Silent_p.I194I|ZNF323_uc003nlb.3_Silent_p.I35I|ZNF323_uc010jrb.3_Silent_p.I35I|ZNF323_uc021yrs.1_Silent_p.I194I|ZNF323_uc021yrt.1_Silent_p.I35I	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I194I(2)|p.I194N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTTCTTTTAAGATTTCTTGCT	0.363000													16	173					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	uc002don.3	+	10	1555	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_uc002dop.4_Missense_Mutation_p.S423I|IL4R_uc010bxy.3_Missense_Mutation_p.S438I|IL4R_uc002doo.3_Missense_Mutation_p.S278I	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	438	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S438I(2)|p.S438G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612000													35	141					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	uc003osk.3	-	0	552	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	89					cell adhesion|visual perception	integral to membrane		p.A89D(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCATACTTGGCTGGGTCCAG	0.537000													17	106					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	uc001nwy.2	-	3	601	c.427T>A	c.(427-429)Tat>Aat	p.Y143N	HRASLS5_uc001nwz.2_Missense_Mutation_p.Y133N|HRASLS5_uc010rmq.1_Missense_Mutation_p.Y143N|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	143								p.Y143N(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418000													7	180					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	uc004ahe.3	+	6	1526	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_uc011lrs.2_Missense_Mutation_p.E380G|TJP2_uc011lrt.1_Missense_Mutation_p.E380G|TJP2_uc004ahd.3_Missense_Mutation_p.E403G|TJP2_uc004ahf.3_Missense_Mutation_p.E403G|TJP2_uc011lru.2_Missense_Mutation_p.E407G|TJP2_uc011lrv.2_Missense_Mutation_p.E434G	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	403					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.E403G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433000													11	53					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753607	76753607	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr18:76753607G>C	uc002lmt.3	+	1	1616	c.1616G>C	c.(1615-1617)gGc>gCc	p.G539A	SALL3_uc010dra.3_Missense_Mutation_p.G146A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G539A(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCGCGCACGGCTACGCCGAC	0.731000													6	10					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030939	56030939	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56030939G>A	uc010spq.2	+	0	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	88			P -> L (in dbSNP:rs10876838).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P88P(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGCTCCCCGCATCCCCAGG	0.602000													29	148					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				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	p.R73L(24)|p.R72S(1)		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)		GTCCTGCGTCGGAGAGGTGGT	0.552000													4	77					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	uc002zea.3	+	22	3876	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S	TRAPPC10_uc010gpo.3_Missense_Mutation_p.N947S|TRAPPC10_uc011afa.2_Missense_Mutation_p.N614S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1236					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.N1236S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622000													7	39					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904197	21904197	+	RNA	SNP	C	C	T	rs9904223	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:21904197C>T	uc002gza.2	+	0		c.136C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctcaggcctgccaggacggtg	0.672000													6	49					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	uc022bnn.1	+	0	583	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ZBTB34_uc004bqm.4_Nonsense_Mutation_p.Q195*	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582000													16	83					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:78211648A>G	uc010bky.2	-	10	883	c.119T>C	c.(118-120)cTa>cCa	p.L40P						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CGCCAGGGATAGGGGCTCAGC	0.522000													4	100					0	0	1	0	0
BCRP3	644165	broad.mit.edu	37	22	25040745	25040745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:25040745C>T	uc011ajv.2	+	1	568	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C						Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		ACTGGCAGCGCGCCGTCATCG	0.617000													3	12					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	uc001azt.2	+	31	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V	CROCC_uc001azu.2_Missense_Mutation_p.L1059V|CROCC_uc001azv.2_Missense_Mutation_p.L92V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1756					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1756V(2)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652000													7	12					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618298	175618298	+	Silent	SNP	G	G	A	rs137852798		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:175618298G>A	uc002ujd.2	-	6	864	c.786C>T	c.(784-786)aaC>aaT	p.N262N	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Silent_p.N237N|CHRNA1_uc002ujf.4_Silent_p.N237N	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	262			N -> K (in SCCMS).		muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.N262N(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGATGATGACGTTGACGATGA	0.577000													7	203					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:110457746G>A	uc003yne.3	+	37	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1883	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438000										HNSCC(38;0.096)			11	45					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	uc002aci.1	-	0	1184	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	352					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.K352N(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657000													20	62					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
