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
PPARGC1A	10891	broad.mit.edu	37	4	23816109	23816109	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:23816109A>G	ENST00000264867.2	-	8	1116	c.997T>C	c.(997-999)Tac>Cac	p.Y333H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	333	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GACTCACTGTACCTGGGCTTC	0.502000													19	103					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176936500	176936500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:176936500G>T	ENST00000312943.6	-	2	202	c.42C>A	c.(40-42)taC>taA	p.Y14*	DOK3_ENST00000501403.2_Nonsense_Mutation_p.Y14*|DOK3_ENST00000377112.4_Nonsense_Mutation_p.Y14*|DOK3_ENST00000357198.4_Nonsense_Mutation_p.Y70*	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	70						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			CATGCTGCTGGTAGAGGATGC	0.632000													5	94					1.23904e-05	1.40811e-05	1	1	0
USP3	9960	broad.mit.edu	37	15	63882938	63882938	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:63882938G>C	ENST00000268049.7	+	16	1734	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	USP3_ENST00000539772.1_Silent_p.L243L|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000380324.3_Silent_p.L492L|USP3_ENST00000540797.1_Silent_p.L448L|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Silent_p.L403L|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558285.1_Silent_p.L475L			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	492					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CTGTAACACTGACTGACGAGG	0.483000													53	95					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100503112	100503112	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:100503112C>T	ENST00000395209.3	+	13	1814	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	DRP2_ENST00000541709.1_Silent_p.I351I|DRP2_ENST00000402866.1_Silent_p.I429I|DRP2_ENST00000538510.1_Silent_p.I429I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	429					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGAAATCTTCAATGAGC	0.443000													56	36					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339786	69339786	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:69339786C>T	ENST00000260364.5	+	13	1973	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000530406.2_Missense_Mutation_p.R548C|NOX5_ENST00000388866.3_Missense_Mutation_p.R576C|NOX5_ENST00000455873.3_Missense_Mutation_p.R541C|NOX5_ENST00000448182.3_Missense_Mutation_p.R530C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	576	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACCCCCACCCGCAGGATCTT	0.587000													6	44					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	39					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528028	155528028	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:155528028C>G	ENST00000404648.3	-	8	1197	c.958G>C	c.(958-960)Gat>Cat	p.D320H	FGG_ENST00000405164.1_Missense_Mutation_p.D328H|FGG_ENST00000336098.3_Missense_Mutation_p.D320H|FGG_ENST00000407946.1_Missense_Mutation_p.D328H	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCGCCAAAATCAAAGCCATCA	0.468000													11	137					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187500929	187500929	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:187500929A>G	ENST00000261023.3	+	7	1026	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	ITGAV_ENST00000374907.3_Missense_Mutation_p.Y215C|ITGAV_ENST00000433736.2_Missense_Mutation_p.Y205C	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	251					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GATGACAGCTATTTGGGTAGG	0.328000													19	81					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56545013	56545013	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:56545013A>T	ENST00000390649.3	+	9	2553	c.2553A>T	c.(2551-2553)gaA>gaT	p.E851D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	851						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCTGAAGGAAGAGGATGTAA	0.488000													17	157					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766606	11766606	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:11766606G>C	ENST00000294485.5	+	2	426	c.291G>C	c.(289-291)ctG>ctC	p.L97L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		AGGGGCTGCTGCCTGAGCAGA	0.677000													7	17					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89037505	89037505	+	Silent	SNP	G	G	C	rs80106793		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:89037505G>C	ENST00000283646.4	+	8	805	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	250					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GTCCTGTGGTGACAGATAATG	0.433000													15	60					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817159	67817159	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:67817159G>C	ENST00000265686.3	+	16	2025	c.1917G>C	c.(1915-1917)ctG>ctC	p.L639L	TCIRG1_ENST00000532635.1_Silent_p.L423L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	639					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGTGGTCCTGGCCTTGGCCA	0.692000													4	12					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238049177	238049177	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:238049177G>C	ENST00000366570.4	-	7	1007	c.849C>G	c.(847-849)gtC>gtG	p.V283V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	283	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCTGCAGCTGACATGGAGCC	0.478000													10	34					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130066236	130066236	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:130066236G>C	ENST00000278742.5	+	10	1534	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	372	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCCTCAGGTGCCCAACAACC	0.607000													2	3					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580206	49580206	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:49580206G>T	ENST00000301071.7	-	3	606	c.262C>A	c.(262-264)Cac>Aac	p.H88N	TUBA1A_ENST00000550767.1_Missense_Mutation_p.H53N|TUBA1A_ENST00000295766.5_Missense_Mutation_p.H88N|TUBA1A_ENST00000546918.1_Silent_p.S138S	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	88					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGCTCAGGGTGGAAGAGCTGG	0.577000													15	97					2.32078e-09	2.77763e-09	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129801092	129801092	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:129801092C>T	ENST00000358825.5	-	11	1580	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	PRDM10_ENST00000360871.3_Missense_Mutation_p.G450E|PRDM10_ENST00000526082.1_Missense_Mutation_p.G364E|PRDM10_ENST00000528746.1_Missense_Mutation_p.G424E|PRDM10_ENST00000423662.2_Missense_Mutation_p.G364E|PRDM10_ENST00000304538.6_Missense_Mutation_p.G364E	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTGATCCAGCCCATTCAGAGT	0.498000													22	33					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001523	150001523	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:150001523C>T	ENST00000543571.1	-	5	2628	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	LATS1_ENST00000253339.5_Missense_Mutation_p.R694H|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	694					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTTTTAAGACGGATGTAATT	0.353000													9	119					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884508	215884508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:215884508G>A	ENST00000272895.7	-	12	1519	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R116*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	434					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTCAAGTTTCGAAGTTGAGAC	0.363000													5	32					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726117	3726117	+	Splice_Site	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:3726117G>C	ENST00000542646.1	+	4	366		c.e4-1		HSPA12B_ENST00000254963.2_Intron			Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B								ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCCTCCTGCAGAGCCGCCCTG	0.587000													14	17					0	0	1	0	0
UBE2K	3093	broad.mit.edu	37	4	39779401	39779401	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:39779401G>A	ENST00000261427.5	+	6	783	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000295963.6_Missense_Mutation_p.E106K|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Missense_Mutation_p.E116K	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	167	UBA.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						CAAAAAAATAGAAAACCTATG	0.368000													8	101					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866566	106866566	+	RNA	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:106866566C>A	ENST00000390618.2	-	0	265																											CCACTCCAGCCCCTTCCCTGG	0.557000													8	100					7.48243e-07	8.58362e-07	1	1	0
MIR654	724024	broad.mit.edu	37	14	101506572	101506572	+	RNA	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:101506572G>A	ENST00000385199.1	+	0	17					NR_030390.1																						GTGGAAAGATGGTGGGCCGCA	0.557000													3	7					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274163	18274163	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:18274163G>C	ENST00000593731.1	+	11	1941	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D461H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	461					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCGCGAGTATGACCAGCTTTA	0.582000													11	16					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148524281	148524281	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:148524281C>A	ENST00000320356.2	-	7	824	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	EZH2_ENST00000460911.1_Missense_Mutation_p.G235C|EZH2_ENST00000483967.1_Missense_Mutation_p.G226C|EZH2_ENST00000536783.1_Missense_Mutation_p.G126C|EZH2_ENST00000541220.1_Missense_Mutation_p.G226C|EZH2_ENST00000476773.1_Missense_Mutation_p.G226C|EZH2_ENST00000478654.1_Missense_Mutation_p.G226C|EZH2_ENST00000350995.2_Missense_Mutation_p.G196C	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	235	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.G235fs*11(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTGCTGTGCCCTTATCTGGA	0.373000			Mis		DLBCL								13	133					0.000219431	0.000241256	1	1	0
ZFP2	80108	broad.mit.edu	37	5	178359680	178359680	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:178359680C>A	ENST00000361362.2	+	5	1896	c.1366C>A	c.(1366-1368)Cat>Aat	p.H456N	ZFP2_ENST00000523286.1_Missense_Mutation_p.H456N|ZFP2_ENST00000520301.1_Missense_Mutation_p.H456N|ZFP2_ENST00000503510.2_Missense_Mutation_p.H456N	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCTTACACGACATCAAAGAAC	0.398000													6	46					0.00198382	0.00209767	1	1	0
CNPPD1	27013	broad.mit.edu	37	2	220040384	220040384	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:220040384G>A	ENST00000409789.1	-	4	616	c.189C>T	c.(187-189)gtC>gtT	p.V63V	CNPPD1_ENST00000360507.5_Silent_p.V63V			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	63					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	p.V63V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GGAGCAGTTCGACAGCAATGT	0.547000													6	64					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28086088	28086088	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:28086088A>G	ENST00000373954.6	+	8	889	c.787A>G	c.(787-789)Aaa>Gaa	p.K263E	FAM76A_ENST00000010299.6_Missense_Mutation_p.K297E|FAM76A_ENST00000234549.7_Missense_Mutation_p.K268E|FAM76A_ENST00000373949.1_Missense_Mutation_p.K234E|FAM76A_ENST00000419687.2_Missense_Mutation_p.K183E|FAM76A_ENST00000530324.1_Missense_Mutation_p.K263E	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	263										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAGAGCCAAAATGAACCA	0.403000													6	35					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43223528	43223528	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:43223528G>T	ENST00000259750.4	+	9	878	c.795G>T	c.(793-795)ccG>ccT	p.P265P	TTBK1_ENST00000304139.5_Silent_p.P214P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	265	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCACATGCCGTCAGAGTTCC	0.602000													18	53					7.41877e-09	8.75847e-09	1	1	0
CBX7	23492	broad.mit.edu	37	22	39529997	39529997	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:39529997C>G	ENST00000216133.5	-	6	860	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.E126Q	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	219					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					ACGGTCACCTCACTTGAGGGG	0.652000													6	110					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11338628	11338628	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:11338628G>C	ENST00000315872.6	-	25	3536	c.3088C>G	c.(3088-3090)Ctc>Gtc	p.L1030V	ROCK2_ENST00000401753.1_Missense_Mutation_p.L787V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1030	RHOA binding (By similarity).				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGAGTTTTGAGTGTTCTTTCT	0.303000													3	60					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647494	150647494	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:150647494G>A	ENST00000392968.2	-	7	2992	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	KCNH2_ENST00000430723.3_Silent_p.F720F|KCNH2_ENST00000262186.5_Silent_p.F720F|KCNH2_ENST00000330883.4_Silent_p.F380F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	720					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCACTCAGGGAAGCCCTTCA	0.662000													5	47					0	0	1	0	0
NKAIN1	79570	broad.mit.edu	37	1	31656756	31656756	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:31656756G>C	ENST00000373736.2	-	4	385	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	NKAIN1_ENST00000263693.1_Missense_Mutation_p.L83V|NKAIN1_ENST00000398657.2_Missense_Mutation_p.L56V	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	127						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		TGGTCCTCCAGAGCCAGGCGG	0.582000											OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	47					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139322404	139322404	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:139322404A>G	ENST00000280098.4	+	9	1343	c.964A>G	c.(964-966)Ata>Gta	p.I322V		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	322						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGCACAAGCCATAGACTTTAT	0.368000													18	102					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91328250	91328250	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:91328250G>T	ENST00000355112.3	+	14	2880	c.2762G>T	c.(2761-2763)gGc>gTc	p.G921V	BLM_ENST00000560509.1_Missense_Mutation_p.G921V|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	921	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TACCATGCTGGCCTCAGTGAT	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				12	50					7.03913e-09	8.32644e-09	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32630168	32630168	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:32630168C>T	ENST00000242310.4	-	1	5499	c.5410G>A	c.(5410-5412)Gga>Aga	p.G1804R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1804					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTCTTATTCCACCATATCCC	0.478000													6	31					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21784151	21784151	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:21784151G>A	ENST00000328843.6	+	51	8302	c.8271G>A	c.(8269-8271)ctG>ctA	p.L2757L	DNAH11_ENST00000409508.3_Silent_p.L2750L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2757					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGACAAACTGATAGACAAAA	0.358000									Kartagener syndrome				6	218					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28608359	28608359	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:28608359G>C	ENST00000220562.4	+	7	3638	c.2736G>C	c.(2734-2736)aaG>aaC	p.K912N	EXTL3_ENST00000523149.1_Missense_Mutation_p.K528N|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	912						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCATGACAAGACCAAGTGCT	0.557000													9	76					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10028333	10028333	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:10028333C>T	ENST00000245046.2	-	1	471	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	EMC3_ENST00000429759.1_Missense_Mutation_p.E5K	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		AGCAACAGTTCTGGCCCTGCC	0.572000													19	29					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30720959	30720959	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:30720959G>C	ENST00000262518.4	+	7	1144	c.759G>C	c.(757-759)caG>caC	p.Q253H	SRCAP_ENST00000344771.4_Missense_Mutation_p.Q253H|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q253H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	253					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCTCAACCAGCCATTAACCT	0.552000													11	79					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70513676	70513676	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:70513676G>C	ENST00000265872.6	+	11	1305	c.1186G>C	c.(1186-1188)Gat>Cat	p.D396H	CCAR1_ENST00000543719.1_Missense_Mutation_p.D381H|CCAR1_ENST00000535016.1_Missense_Mutation_p.D381H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	396					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGACTTTTTTGATGCTCAATT	0.373000													8	164					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37720625	37720625	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:37720625T>G	ENST00000330843.4	-	6	3652	c.3640A>C	c.(3640-3642)Agc>Cgc	p.S1214R	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S580R|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S432R|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1214	FIP-RBD.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCCGAGGGGCTGTATTTCTTT	0.443000													13	75					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552984	19552984	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:19552984G>A	ENST00000536433.1	-	1	3693	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSR1_ENST00000272223.2_Missense_Mutation_p.R195W			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	195					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGTGCGTCCGCTCATGGATA	0.597000													4	97					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180008	212180008	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:212180008T>C	ENST00000366994.3	-	7	956	c.852A>G	c.(850-852)ccA>ccG	p.P284P	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.P284P|INTS7_ENST00000366993.3_Silent_p.P284P|INTS7_ENST00000440600.2_Silent_p.P235P	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	284					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCCAAGTATGTGGTGTTTTAT	0.294000													7	44					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022136	107022136	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:107022136A>T	ENST00000369701.3	+	26	3718	c.3491A>T	c.(3490-3492)gAg>gTg	p.E1164V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1164						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACGACAAGGAGCAGGAGATG	0.488000													5	43					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16965058	16965058	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:16965058C>A	ENST00000379803.1	+	8	1058	c.1044C>A	c.(1042-1044)gtC>gtA	p.V348V	SIN3B_ENST00000596802.1_Silent_p.V348V|SIN3B_ENST00000248054.5_Silent_p.V348V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	348	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAGCTCGTCAGCCCATTTC	0.552000													7	31					5.18039e-06	5.9316e-06	1	1	0
WDR90	197335	broad.mit.edu	37	16	711673	711673	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:711673G>T	ENST00000549091.1	+	31	3842	c.3750G>T	c.(3748-3750)gaG>gaT	p.E1250D	WDR90_ENST00000293879.4_Missense_Mutation_p.E1250D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1250										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCTCCCGGAGCCGGTGCATG	0.692000													3	30					0.115264	0.117782	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176518732	176518732	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:176518732C>T	ENST00000292408.4	+	6	895	c.650C>T	c.(649-651)tCg>tTg	p.S217L	FGFR4_ENST00000292410.3_Missense_Mutation_p.S217L|FGFR4_ENST00000502906.1_Missense_Mutation_p.S217L|FGFR4_ENST00000393637.1_Missense_Mutation_p.S217L|FGFR4_ENST00000393648.2_Missense_Mutation_p.S217L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	217	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTGGTGCCCTCGGACCGCGGC	0.637000										TSP Lung(9;0.080)			5	46					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67562956	67562956	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:67562956C>G	ENST00000280200.4	-	4	976	c.708G>C	c.(706-708)atG>atC	p.M236I	CD226_ENST00000582621.1_Missense_Mutation_p.M236I|CD226_ENST00000577287.1_Missense_Mutation_p.M81I|CD226_ENST00000581982.1_Missense_Mutation_p.M81I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	236	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CAGTCAATCTCATCACGAAGG	0.527000													4	176					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566055	5566055	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:5566055G>C	ENST00000322653.4	-	1	724	c.699C>G	c.(697-699)gtC>gtG	p.V233V	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGCCAAAGACAGCACAGA	0.483000													6	23					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298242	42298242	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:42298242G>A	ENST00000399518.3	-	4	957	c.471C>T	c.(469-471)ctC>ctT	p.L157L	PLA2G4E_ENST00000413860.2_Silent_p.L128L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	139					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCTTGGTGAGGTCATAGA	0.517000													3	31					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926476	67926476	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:67926476T>A	ENST00000304363.4	-	11	1690	c.1337A>T	c.(1336-1338)aAg>aTg	p.K446M		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGTAAAGGCTTTGCAGGCTT	0.373000													25	67					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27356317	27356317	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:27356317G>T	ENST00000395762.2	+	5	596	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C	IL4R_ENST00000449195.1_Missense_Mutation_p.G113C|IL4R_ENST00000380922.3_Missense_Mutation_p.G98C|IL4R_ENST00000543915.2_Missense_Mutation_p.G113C|IL4R_ENST00000170630.2_Missense_Mutation_p.G113C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	113					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			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCTGTGGAAGGGCTCCTTCAA	0.667000													29	61					3.11337e-16	3.88692e-16	1	1	0
ZNF544	27300	broad.mit.edu	37	19	58773727	58773727	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:58773727C>T	ENST00000269829.4	+	7	2229	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	ZNF544_ENST00000415203.2_Silent_p.F557F|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Silent_p.F585F|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Silent_p.F557F|ZNF544_ENST00000600044.1_Silent_p.F557F|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.F443F	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAAGTCCTTCAGCCAAAGCT	0.433000													4	81					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140227217	140227217	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:140227217C>A	ENST00000275884.6	-	14	2823	c.2406G>T	c.(2404-2406)ctG>ctT	p.L802L	DENND2A_ENST00000537639.1_Silent_p.L802L|DENND2A_ENST00000496613.1_Silent_p.L802L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	802	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGCGGGTGGCAGCACCGGGA	0.662000													4	7					0.00909568	0.00948572	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140183241	140183241	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140183241C>G	ENST00000532566.2	+	1	2459	c.2459C>G	c.(2458-2460)cCt>cGt	p.P820R	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031497.1	NP_113685.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCCACTCCTCTGGAAATA	0.318000													3	19					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794321	140794321	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140794321G>A	ENST00000398610.2	+	1	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGACTATGAGCAGTTTCA	0.542000													10	161					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34630595	34630595	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:34630595C>A	ENST00000374789.3	-	16	2702	c.2377G>T	c.(2377-2379)Ggt>Tgt	p.G793C	PARD3_ENST00000374773.1_Missense_Mutation_p.G790C|PARD3_ENST00000374794.3_Missense_Mutation_p.G733C|PARD3_ENST00000374790.3_Missense_Mutation_p.G733C|PARD3_ENST00000544292.1_Missense_Mutation_p.G507C|PARD3_ENST00000340077.5_Missense_Mutation_p.G790C|PARD3_ENST00000545260.1_Missense_Mutation_p.G733C|PARD3_ENST00000374776.1_Missense_Mutation_p.G777C|PARD3_ENST00000374788.3_Missense_Mutation_p.G790C|PARD3_ENST00000346874.4_Missense_Mutation_p.G793C|PARD3_ENST00000545693.1_Missense_Mutation_p.G777C|PARD3_ENST00000350537.4_Missense_Mutation_p.G777C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	793	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCCAAGTACCAGCATCTGCC	0.473000													5	45					0.184627	0.186158	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240254	3240254	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:3240254G>C	ENST00000217939.6	-	5	3626	c.3472C>G	c.(3472-3474)Cgc>Ggc	p.R1158G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1158						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGTTGGGGCGTAATCTCCTT	0.507000													6	67					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179363134	179363134	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:179363134A>T	ENST00000367618.3	+	10	1347	c.960A>T	c.(958-960)ttA>ttT	p.L320F	AXDND1_ENST00000457238.2_Missense_Mutation_p.L320F|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	320										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGCGCATTTTAGAAGAATTGT	0.378000													31	87					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100676839	100676839	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:100676839G>C	ENST00000360820.2	+	2	528	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	31					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTCACTAGAGAATTTGATGT	0.398000													4	44					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151845618	151845618	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:151845618C>T	ENST00000355193.2	-	53	13783	c.13565G>A	c.(13564-13566)tGt>tAt	p.C4522Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.C4465Y					lysine (K)-specific methyltransferase 2C																		CGTCTTGTGACAGAAGACACA	0.473000													31	114					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705624	30705624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:30705624C>A	ENST00000256246.2	-	1	984	c.910G>T	c.(910-912)Gag>Tag	p.E304*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	304										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTCTAACTCTTGAGTAATT	0.323000													9	32					2.17888e-05	2.46237e-05	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146256146	146256146	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:146256146C>T	ENST00000367503.3	-	13	3285	c.2887G>A	c.(2887-2889)Gac>Aac	p.D963N	SHPRH_ENST00000438092.2_Missense_Mutation_p.D963N|SHPRH_ENST00000367505.2_Missense_Mutation_p.D963N|SHPRH_ENST00000275233.7_Missense_Mutation_p.D963N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	963					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTCCTTCTGTCTAGGCTGCTG	0.522000													11	44					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22604997	22604997	+	Splice_Site	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:22604997C>A	ENST00000357774.5	-	1	151	c.30G>T	c.(28-30)atG>atT	p.M10I	ZNF98_ENST00000601553.1_Splice_Site_p.M10I	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GCACTCTCACCATTTCTAGGC	0.612000													27	136					6.05902e-23	7.6588e-23	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155565884	155565884	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:155565884C>T	ENST00000461783.3	+	20	4783	c.3510C>T	c.(3508-3510)gaC>gaT	p.D1170D	TIAM2_ENST00000528391.2_Silent_p.D506D|TIAM2_ENST00000456877.2_Silent_p.D482D|TIAM2_ENST00000456144.1_Silent_p.D1170D|TIAM2_ENST00000360366.4_Silent_p.D1194D|TIAM2_ENST00000367174.2_Silent_p.D546D|TIAM2_ENST00000275246.7_Silent_p.D95D|TIAM2_ENST00000529824.2_Silent_p.D1170D|TIAM2_ENST00000318981.5_Silent_p.D1170D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1170	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCATCTGACTTTAACACCC	0.413000													10	68					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170634366	170634366	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:170634366G>T	ENST00000513761.1	+	12	2845	c.2286G>T	c.(2284-2286)gtG>gtT	p.V762V	CLCN3_ENST00000347613.4_Silent_p.V762V|CLCN3_ENST00000360642.3_Silent_p.V735V|CLCN3_ENST00000504131.2_Silent_p.V745V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	762	CBS 2.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTTTTACAGTGACAGACCACA	0.507000													19	39					5.26018e-13	6.4872e-13	1	1	0
DAZAP1	26528	broad.mit.edu	37	19	1425926	1425926	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:1425926C>A	ENST00000336761.6	+	7	718	c.513C>A	c.(511-513)gtC>gtA	p.V171V	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000233078.4_Silent_p.V171V	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	171	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGCTGTCAACATGCATT	0.413000													11	199					5.16669e-11	6.27015e-11	1	1	0
LIPF	8513	broad.mit.edu	37	10	90431629	90431629	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:90431629C>T	ENST00000394375.3	+	7	719	c.606C>T	c.(604-606)atC>atT	p.I202I	LIPF_ENST00000608620.1_Silent_p.I159I|LIPF_ENST00000355843.2_Silent_p.I169I|LIPF_ENST00000238983.4_Silent_p.I192I	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	192					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTAAAAGAATCAAAACCTTCT	0.393000													24	201					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72037489	72037489	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:72037489G>C	ENST00000355327.3	+	12	2085	c.1951G>C	c.(1951-1953)Gaa>Caa	p.E651Q	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E651Q|THSD4_ENST00000357769.4_Missense_Mutation_p.E291Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	651						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGCACTCATGAAGAGGCTCC	0.552000													16	286					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:13206177G>C	ENST00000379350.1	+	7	924	c.795G>C	c.(793-795)aaG>aaC	p.K265N	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.K265N|PHACTR1_ENST00000457702.2_Missense_Mutation_p.K120N			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627000													7	48					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926346	22926346	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:22926346C>A	ENST00000276431.4	-	1	346	c.62G>T	c.(61-63)gGa>gTa	p.G21V	RP11-875O11.2_ENST00000501897.1_RNA|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.G21V|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	21					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTCCCTGGGTCCTGGGCCGTG	0.706000													8	8					0.000157383	0.00017335	1	1	0
ZNF558	148156	broad.mit.edu	37	19	8922084	8922084	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:8922084G>C	ENST00000601372.1	-	10	1793	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	ZNF558_ENST00000301475.1_Nonsense_Mutation_p.S361*|ZNF558_ENST00000444186.2_Nonsense_Mutation_p.S290*			Q96NG5	ZN558_HUMAN	zinc finger protein 558	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CTTCACAGCTGAGAGATTATT	0.413000													25	65					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126249835	126249835	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:126249835C>G	ENST00000368357.3	+	17	3099	c.2747C>G	c.(2746-2748)tCt>tGt	p.S916C	NCOA7_ENST00000392477.2_Missense_Mutation_p.S916C|NCOA7_ENST00000229634.9_Missense_Mutation_p.S801C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	916	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAGCAACTCTTGCAGCACT	0.358000													30	90					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075919	144075919	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:144075919G>A	ENST00000056217.5	+	14	4770	c.4596G>A	c.(4594-4596)gaG>gaA	p.E1532E	ARHGEF5_ENST00000471847.2_Silent_p.E454E	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1532	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGGCACTGGAGAAAGCCGACG	0.577000													8	149					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34126363	34126363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:34126363G>A	ENST00000361264.4	-	1	408	c.67C>T	c.(67-69)Cag>Tag	p.Q23*		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	23						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TGCGGGCCCTGAGCGTCGCTC	0.687000													8	7					0	0	1	0	0
AGAP2-AS1	100130776	broad.mit.edu	37	12	58120985	58120985	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:58120985G>C	ENST00000542466.2	+	2	346	c.210G>C	c.(208-210)ttG>ttC	p.L70F	AGAP2_ENST00000257897.3_Silent_p.A680A|AGAP2_ENST00000547588.1_Silent_p.A1036A																							GCTCGTACTTGGCGCGAATCC	0.682000											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209185006	209185006	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:209185006C>A	ENST00000264380.4	+	17	2271	c.2113C>A	c.(2113-2115)Ctt>Att	p.L705I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	705					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCCAAAATTCTTCTGTTGAA	0.308000													6	97					5.4927e-09	6.50987e-09	1	1	0
KALRN	8997	broad.mit.edu	37	3	123813703	123813703	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:123813703G>T	ENST00000360013.3	+	1	146	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	KALRN_ENST00000240874.3_Missense_Mutation_p.D7Y|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_Missense_Mutation_p.D7Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCGCTTCTGGGACCAGTGGTA	0.562000													15	27					2.35188e-11	2.85989e-11	1	1	0
CETN1	1068	broad.mit.edu	37	18	580581	580581	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:580581G>A	ENST00000327228.3	+	1	215	c.173G>A	c.(172-174)aGa>aAa	p.R58K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	58	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GTGGCCATGAGAGCGCTGGGC	0.552000													6	30					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129592	76129592	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:76129592C>T	ENST00000296677.4	+	2	1366	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	387	Poly-Ser.				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGCTCTTACTCTTCAAGTTCA	0.458000													27	95					0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136939711	136939711	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:136939711G>C	ENST00000348225.2	-	2	437	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	PTN_ENST00000393083.2_Missense_Mutation_p.Q4E	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	4					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGGTACTGTTGAGCCTGCATT	0.438000													7	17					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168875	36168875	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:36168875G>A	ENST00000357641.6	+	2	1029	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	BRPF3_ENST00000534400.1_Missense_Mutation_p.C259Y|BRPF3_ENST00000534694.1_Missense_Mutation_p.C259Y|BRPF3_ENST00000443324.2_Missense_Mutation_p.C259Y|BRPF3_ENST00000543502.1_Missense_Mutation_p.C259Y|BRPF3_ENST00000339717.7_Missense_Mutation_p.C259Y	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	259					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGCCGCTGCTGCCTGCAGTCT	0.572000													17	58					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150690906	150690906	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:150690906G>C	ENST00000297494.3	+	2	372	c.15G>C	c.(13-15)aaG>aaC	p.K5N	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000484524.1_Missense_Mutation_p.K5N|NOS3_ENST00000467517.1_Missense_Mutation_p.K5N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	5					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAACTTGAAGAGCGTGGCCC	0.692000													7	27					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791326	60791326	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:60791326C>A	ENST00000340177.5	-	3	1358	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	HRH3_ENST00000317393.6_Missense_Mutation_p.K358N	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	358					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CGGCCAGCGACTTGGCCACTT	0.637000													4	15					0.014758	0.0153382	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148975576	148975576	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:148975576C>A	ENST00000434415.1	+	5	923	c.760C>A	c.(760-762)Cag>Aag	p.Q254K	ZNF783_ENST00000489518.1_3'UTR	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	254					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CAAGCAGCAGCAGGACTCAGA	0.632000													3	12					0.115264	0.117782	1	1	0
SNORD114-26	767606	broad.mit.edu	37	14	101453424	101453424	+	RNA	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:101453424A>G	ENST00000363543.1	+	0	42					NR_003219.1																						GTCACATACGATGAATACGTG	0.373000													6	87					0	0	1	0	0
MIR526B	574468	broad.mit.edu	37	19	54197651	54197651	+	RNA	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:54197651G>T	ENST00000384848.1	+	0	5					NR_030190.1																						AAGATGTCAGGCTGTGACCCT	0.393000													6	50					0.00198382	0.00209767	1	1	0
MREG	55686	broad.mit.edu	37	2	216861119	216861119	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:216861119C>G	ENST00000263268.6	-	2	460	c.165G>C	c.(163-165)atG>atC	p.M55I		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	55						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CATCATGGGGCATACTCCATA	0.438000													10	46					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845370	182845370	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:182845370G>T	ENST00000367549.3	+	17	2111	c.2001G>T	c.(1999-2001)caG>caT	p.Q667H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	667	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATACTATGCAGAAGCATTTGG	0.373000													5	128					0.00116845	0.00124853	1	1	0
MRC1	4360	broad.mit.edu	37	10	17891741	17891741	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:17891741G>T	ENST00000331429.2	+	7	1325	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	MRC1L1_ENST00000457317.1_Missense_Mutation_p.D408Y																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAGGAATTCGACTTTATTAT	0.453000													13	193					1.5842e-08	1.86304e-08	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123900829	123900829	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:123900829A>T	ENST00000431524.1	+	1	533	c.500A>T	c.(499-501)tAc>tTc	p.Y167F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATTTGCCCTACTGTGGACCC	0.532000													16	119					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180979	96180979	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:96180979G>A	ENST00000343702.4	-	2	771	c.323C>T	c.(322-324)tCt>tTt	p.S108F	NTN4_ENST00000538383.1_Missense_Mutation_p.S71F|NTN4_ENST00000344911.4_Missense_Mutation_p.S71F|NTN4_ENST00000553059.1_Missense_Mutation_p.S108F	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	108	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATCCTCCGCAGACTGCCACCA	0.537000													16	22					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24556401	24556401	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:24556401G>T	ENST00000336812.4	-	5	1183	c.1027C>A	c.(1027-1029)Cat>Aat	p.H343N		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	343	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCACACATATGAATCTGGATA	0.373000													6	131					0.00116845	0.00124853	1	1	0
MACF1	23499	broad.mit.edu	37	1	39945643	39945643	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:39945643A>T	ENST00000564288.1	+	98	22909	c.22132A>T	c.(22132-22134)Atg>Ttg	p.M7378L	MACF1_ENST00000545844.1_Missense_Mutation_p.M5290L|MACF1_ENST00000539005.1_Missense_Mutation_p.M5160L|MACF1_ENST00000361689.2_Missense_Mutation_p.M5290L|MACF1_ENST00000567887.1_Missense_Mutation_p.M7415L|MACF1_ENST00000372915.3_Missense_Mutation_p.M7248L|MACF1_ENST00000317713.7_Missense_Mutation_p.M5290L|MACF1_ENST00000289893.4_Missense_Mutation_p.M5798L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7248	C-terminal tail (By similarity).				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGTACATCCATGCCATCTTC	0.542000													16	39					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165528	51165528	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:51165528C>A	ENST00000293441.1	-	23	6198	c.6180G>T	c.(6178-6180)ggG>ggT	p.G2060G	SHANK1_ENST00000391813.1_Silent_p.G1447G|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.G2051G|SHANK1_ENST00000391814.1_Silent_p.G2068G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2060					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCCGGATATCCCCGGGTGTG	0.692000													3	15					0.150653	0.152917	1	1	0
FAM76A	199870	broad.mit.edu	37	1	28060687	28060687	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:28060687G>A	ENST00000373954.6	+	4	449	c.347G>A	c.(346-348)aGa>aAa	p.R116K	FAM76A_ENST00000010299.6_Missense_Mutation_p.R150K|FAM76A_ENST00000234549.7_Missense_Mutation_p.R150K|FAM76A_ENST00000373949.1_Missense_Mutation_p.R116K|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000530324.1_Missense_Mutation_p.R116K	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	116										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGATGATAGAAAGAAGGTA	0.383000													11	60					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	21198321	21198321	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:21198321C>G	ENST00000274695.4	+	14	1536	c.1369C>G	c.(1369-1371)Caa>Gaa	p.Q457E	CDKAL1_ENST00000378624.4_Missense_Mutation_p.Q366E|CDKAL1_ENST00000378610.1_Missense_Mutation_p.Q457E	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	457	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGCACACAATCAATTCTATGA	0.388000													32	57					0	0	1	0	0
POLR2G	5436	broad.mit.edu	37	11	62532662	62532662	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:62532662C>G	ENST00000301788.7	+	4	396	c.291C>G	c.(289-291)ctC>ctG	p.L97L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	97					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						AGGTTGGACTCTTCACAGAAA	0.527000													13	107					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561371	11561371	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:11561371T>A	ENST00000294484.6	+	2	460	c.322T>A	c.(322-324)Ttt>Att	p.F108I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.F108I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	108					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTACAACGCCTTTGAGATCCG	0.592000													12	41					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161140868	161140868	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:161140868C>T	ENST00000367999.4	+	13	1602	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	PPOX_ENST00000352210.5_Silent_p.L446L|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Silent_p.L154L|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	446					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCCCTGACTCTGGCTGGAGC	0.537000													8	275					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581363	79581363	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:79581363T>C	ENST00000372391.2	-	15	2884	c.2879A>G	c.(2878-2880)aAg>aGg	p.K960R	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	960					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AACAGAGAGCTTCTCAGGCAC	0.557000													7	23					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23447600	23447600	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:23447600G>A	ENST00000262713.2	-	2	1436	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	AJUBA_ENST00000361265.4_Missense_Mutation_p.A354V|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	354	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GCTGTCCAGGGCCTGGCAGGC	0.537000													5	81					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236145007	236145007	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:236145007C>T	ENST00000264187.6	-	16	3213	c.3131G>A	c.(3130-3132)cGa>cAa	p.R1044Q	NID1_ENST00000366595.3_Missense_Mutation_p.R911Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1044					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CACTTCTATTCGATCCAGGTT	0.517000													18	41					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1025894	1025894	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:1025894C>A	ENST00000358495.3	-	8	774	c.636G>T	c.(634-636)atG>atT	p.M212I	RAD52_ENST00000430095.2_Missense_Mutation_p.M212I|RAD52_ENST00000539046.1_Missense_Mutation_p.M135I|RAD52_ENST00000536177.1_Missense_Mutation_p.M212I	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	212					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCCCAGGGCCATGTTCGGTC	0.572000								Homologous recombination					5	66					1.12685e-05	1.28301e-05	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119283117	119283117	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:119283117C>A	ENST00000338891.7	-	17	3593	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K881N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K846N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K966N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1050										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTTATCATTCTTCTTCTTTT	0.418000													14	81					2.32078e-09	2.77763e-09	1	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332496	22332496	+	RNA	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:22332496C>T	ENST00000558896.1	+	0	303																											TCTCTTATTACTATTTTTGTT	0.373000													5	75					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73412591	73412591	+	Splice_Site	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:73412591G>C	ENST00000553457.1	+	6	524		c.e6-1		DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000353777.3_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site|DCAF4_ENST00000394234.2_Splice_Site			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCCTTCTCCAGGCAGATACCA	0.577000													20	214					0	0	1	0	0
TVP23A	780776	broad.mit.edu	37	16	10867265	10867265	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:10867265C>T	ENST00000299866.8	-	5	649	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		ATTCGTGCTTCAGCTTCTGTG	0.423000													6	58					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953186	38953186	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:38953186C>T	ENST00000306658.7	-	5	1025	c.960G>A	c.(958-960)ctG>ctA	p.L320L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	320	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCAGGGACTGCAGCTGGATCT	0.597000													7	69					0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48564728	48564728	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:48564728C>T	ENST00000376687.3	+	4	1091	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000337852.6_Silent_p.L312L|SUV39H1_ENST00000453214.2_Silent_p.T148T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	301	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTCTTTGACCTGGACTACGT	0.607000													17	13					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139305246	139305246	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:139305246C>G	ENST00000406875.3	-	7	1777	c.1683G>C	c.(1681-1683)gtG>gtC	p.V561V	HIPK2_ENST00000428878.2_Silent_p.V561V|HIPK2_ENST00000342645.6_Silent_p.V561V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	561	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGCTCTGGTTCACCGTGTCAT	0.502000											OREG0018361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	158					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324579	62324579	+	Missense_Mutation	SNP	C	C	T	rs144034326		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:62324579C>T	ENST00000318100.4	+	30	3762	c.2935C>T	c.(2935-2937)Cgg>Tgg	p.R979W	RTEL1_ENST00000360203.5_Missense_Mutation_p.R979W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R1003W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R979W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R224W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R979W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	979					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGTGGCTATCGGCCTGAGCA	0.622000													15	127					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364526	10364526	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:10364526C>G	ENST00000377093.4	+	21	3436	c.3283C>G	c.(3283-3285)Caa>Gaa	p.Q1095E	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Q1095E|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCATATTCATCAACACCGTCA	0.512000													5	59					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980914	44980914	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:44980914T>C	ENST00000221327.4	-	5	2065	c.1784A>G	c.(1783-1785)cAt>cGt	p.H595R	ZNF180_ENST00000391956.4_Missense_Mutation_p.H570R|ZNF180_ENST00000592529.1_Missense_Mutation_p.H568R	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTTCTCTGATGTACAACAAG	0.418000													10	70					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33069054	33069054	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:33069054C>G	ENST00000286835.7	-	8	1169	c.787G>C	c.(787-789)Gat>Cat	p.D263H	SCAF4_ENST00000399804.1_Missense_Mutation_p.D263H|SCAF4_ENST00000434667.3_Missense_Mutation_p.D248H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	263				Missing (in Ref. 2; CAB55911).		nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAAATCTATCAAGCAACTTC	0.403000													5	145					0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9144893	9144893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:9144893G>A	ENST00000266551.4	+	2	189	c.174G>A	c.(172-174)tgG>tgA	p.W58*	KLRG1_ENST00000356986.3_Nonsense_Mutation_p.W58*|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	58			W -> R (in dbSNP:rs1805749).		cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TATACCAGTGGATCCTGTGCC	0.388000													70	189					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29195976	29195976	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:29195976C>G	ENST00000240100.2	-	3	1011	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	DUSP4_ENST00000240101.2_Missense_Mutation_p.A117P	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	208	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCATGGTAGGCACTGCCGAGG	0.562000													3	14					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158595943	158595943	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:158595943G>A	ENST00000368147.4	-	42	6083	c.5903C>T	c.(5902-5904)gCa>gTa	p.A1968V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCTGTTTTGCCAGAAGAGT	0.388000													6	57					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152430	66152430	+	RNA	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:66152430C>T	ENST00000489520.2	-	0	513					NR_026825.2																						AGCCGTGGCTCCCAGTAGGCT	0.542000													11	13					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455631	16455631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:16455631G>A	ENST00000395824.1	-	6	2442	c.1825C>T	c.(1825-1827)Caa>Taa	p.Q609*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.Q609*			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	602					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTATGATGTTGAGTAAGATTT	0.408000													7	58					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422188	124422188	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:124422188C>T	ENST00000545135.1	-	3	3658	c.362G>A	c.(361-363)aGt>aAt	p.S121N	CCDC92_ENST00000238156.3_Missense_Mutation_p.S138N|CCDC92_ENST00000545891.1_Missense_Mutation_p.S121N|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	138										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CAGCTTGTGACTCTTGGCCTT	0.562000													23	128					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379194	114379194	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:114379194G>T	ENST00000312719.5	-	5	1456	c.268C>A	c.(268-270)Ctc>Atc	p.L90I	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.L90I|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	90					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCCTTGGGGAGCTGCTGGACC	0.572000													4	26					0.150653	0.152917	1	1	0
SPECC1L	23384	broad.mit.edu	37	22	24730513	24730513	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:24730513C>T	ENST00000314328.9	+	9	2817	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	SPECC1L_ENST00000541492.1_Silent_p.L844L|SPECC1L_ENST00000437398.1_Silent_p.L844L|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.L844L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	844					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TAAAAACCCTCATCAAGTCCT	0.453000													19	99					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716521	716521	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:716521G>A	ENST00000549091.1	+	38	4905	c.4813G>A	c.(4813-4815)Gtc>Atc	p.V1605I	WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.V1603I|WDR90_ENST00000547944.1_Missense_Mutation_p.V202I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1603										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGGTCAGCGTCTGGGCCTC	0.622000													3	14					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114209605	114209605	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:114209605T>C	ENST00000357077.4	+	20	2293	c.2240T>C	c.(2239-2241)cTt>cCt	p.L747P	ANK2_ENST00000264366.6_Missense_Mutation_p.L747P|ANK2_ENST00000506722.1_Missense_Mutation_p.L726P|ANK2_ENST00000394537.3_Missense_Mutation_p.L747P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	747					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCAACTTTCTTCTGAAGCAG	0.348000													4	63					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029772	112029772	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:112029772G>T	ENST00000374566.3	-	4	1031	c.514C>A	c.(514-516)Ctt>Att	p.L172I	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.L172I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	172	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTCACGAAGGTTGTTTGGT	0.443000													4	63					4.096e-09	4.87352e-09	1	1	0
RHOA	387	broad.mit.edu	37	3	49412884	49412884	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:49412884C>T	ENST00000418115.1	-	2	523	c.139G>A	c.(139-141)Gag>Aag	p.E47K	RHOA_ENST00000422781.1_Missense_Mutation_p.E47K|RHOA_ENST00000454011.2_Missense_Mutation_p.E47K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	47					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCATCCACCTCGATATCTGCC	0.433000													24	41					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68191963	68191963	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:68191963G>A	ENST00000349223.5	+	4	1817	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	NFATC3_ENST00000575270.1_Missense_Mutation_p.M531I|NFATC3_ENST00000346183.3_Missense_Mutation_p.M531I|NFATC3_ENST00000329524.4_Missense_Mutation_p.M531I|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	531	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAAATAATATGTCAGCCAGGT	0.303000													3	39					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6270486	6270486	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:6270486G>C	ENST00000377939.4	+	10	1057	c.930G>C	c.(928-930)ctG>ctC	p.L310L	RNF207_ENST00000377948.2_Silent_p.L83L	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	310						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CTGAGTTCCTGGACCTGGGCT	0.647000													9	44					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847696	2847696	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrY:2847696C>A	ENST00000155093.3	+	8	2389	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	ZFY_ENST00000431102.1_Missense_Mutation_p.H499N|ZFY_ENST00000383052.1_Missense_Mutation_p.H690N|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000449237.1_Missense_Mutation_p.H613N	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CCAATGTAGACATTGTGACTT	0.408000													80	25					3.27973e-32	4.16299e-32	1	1	0
ALDH5A1	7915	broad.mit.edu	37	6	24520658	24520658	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:24520658G>T	ENST00000357578.3	+	6	1045	c.900G>T	c.(898-900)gtG>gtT	p.V300V	ALDH5A1_ENST00000546278.1_Silent_p.V212V|ALDH5A1_ENST00000348925.2_Silent_p.V313V|ALDH5A1_ENST00000491546.1_Silent_p.V272V	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	300					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CAAACTCTGTGAAAAGGGTCT	0.473000													11	124					9.70103e-10	1.17028e-09	1	1	0
ATP5SL	55101	broad.mit.edu	37	19	41938286	41938286	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:41938286G>T	ENST00000221943.9	-	6	629	c.624C>A	c.(622-624)gaC>gaA	p.D208E	ATP5SL_ENST00000592922.2_Missense_Mutation_p.D181E|ATP5SL_ENST00000438807.3_Missense_Mutation_p.T127N|ATP5SL_ENST00000301183.11_Missense_Mutation_p.T160N|ATP5SL_ENST00000589970.1_Missense_Mutation_p.T154N|ATP5SL_ENST00000417807.3_Missense_Mutation_p.D214E	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	208										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CGGCAGGGAGGTCCGAGATGT	0.577000													8	62					0.0477658	0.0491397	1	1	0
POTEE	445582	broad.mit.edu	37	2	131995781	131995781	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:131995781A>G	ENST00000358087.5	+	7	1223	c.1171A>G	c.(1171-1173)Act>Gct	p.T391A	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000356920.5_Silent_p.E404E			Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	0							ATP binding										TGTCTCAAGAACTAGAAATAA	0.303000													3	56					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677439	73677439	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:73677439C>T	ENST00000264448.6	+	8	3893	c.3782C>T	c.(3781-3783)gCt>gTt	p.A1261V	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1219V|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1261V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1261	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGAAGAGGCTCTGAAAATT	0.463000													8	98					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985481	204985481	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:204985481C>T	ENST00000367172.4	+	32	4186	c.3858C>T	c.(3856-3858)gaC>gaT	p.D1286D	NFASC_ENST00000360049.4_Silent_p.D1108D|NFASC_ENST00000339876.6_Silent_p.D1179D|NFASC_ENST00000404907.1_Silent_p.D1113D|NFASC_ENST00000513543.1_Silent_p.D1108D|NFASC_ENST00000367171.4_Silent_p.D1271D|NFASC_ENST00000539706.1_Silent_p.D1113D|NFASC_ENST00000401399.1_Silent_p.D1179D|NFASC_ENST00000338586.6_Silent_p.D1163D|NFASC_ENST00000367169.4_Silent_p.D1010D|NFASC_ENST00000338515.6_Silent_p.D1196D|NFASC_ENST00000404076.1_Silent_p.D1096D|NFASC_ENST00000367170.4_Silent_p.D1207D|NFASC_ENST00000495396.1_3'UTR			O94856	NFASC_HUMAN	neurofascin	1286					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCTCTGGACGGCACCATCA	0.587000													26	112					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295679	45295679	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:45295679C>G	ENST00000447098.2	-	7	848	c.837G>C	c.(835-837)ctG>ctC	p.L279L	PTCH2_ENST00000372192.3_Silent_p.L279L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	279					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCCCCACTCAGCTCGTGAG	0.607000									Basal Cell Nevus syndrome				4	26					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133645075	133645075	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:133645075C>T	ENST00000519595.1	-	5	662	c.564G>A	c.(562-564)caG>caA	p.Q188Q	LRRC6_ENST00000250173.1_Silent_p.Q188Q|LRRC6_ENST00000518642.1_Silent_p.Q188Q|LRRC6_ENST00000520446.1_Intron			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	188						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTGTTTCCTCTGAGCCTCTT	0.408000													6	187					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91452614	91452614	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:91452614C>T	ENST00000360468.3	+	8	1272	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Silent_p.V418V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	418					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAAGCAACGTCCTCCTGGTGC	0.542000													3	32					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178014	171178014	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:171178014G>A	ENST00000441535.1	+	9	1455	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Silent_p.K446K|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	446					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGGTGCGAAGCCAGATTTCT	0.478000													47	195					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043089	46043089	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:46043089T>A	ENST00000295452.4	-	9	1481	c.1314A>T	c.(1312-1314)aaA>aaT	p.K438N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	438					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAGAGTCAATTTTGGCAATGC	0.403000													9	55					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242441097	242441097	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:242441097G>T	ENST00000316586.4	-	3	406	c.57C>A	c.(55-57)ctC>ctA	p.L19L	STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405585.1_Intron|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Silent_p.L19L|STK25_ENST00000401869.1_Silent_p.L19L	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	19					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L19L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCTTGGTGAAGAGCTCCTCAG	0.627000													16	30					1.02788e-11	1.25241e-11	1	1	0
MIR520E	574461	broad.mit.edu	37	19	54179039	54179039	+	RNA	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:54179039T>C	ENST00000384867.1	+	0	75					NR_030183.1																						TTTTTGAGGGTTACTGTTTGA	0.433000													5	27					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30887966	30887966	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:30887966G>T	ENST00000321897.5	+	12	1898	c.1266G>T	c.(1264-1266)atG>atT	p.M422I	VARS2_ENST00000416670.2_Missense_Mutation_p.M422I|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.M452I|VARS2_ENST00000542001.1_Missense_Mutation_p.M282I			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	422					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						ATGGGACCATGACCTCCCTCT	0.582000													9	30					0.000673444	0.000725982	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86913436	86913436	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:86913436G>A	ENST00000370565.4	+	11	2121	c.1959G>A	c.(1957-1959)acG>acA	p.T653T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	653					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)		ATCCTGTTACGCTGAGACTCC	0.413000													4	25					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42148507	42148507	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:42148507C>T	ENST00000269097.4	+	1	405	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	58					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCGCGGTGCTCTGGATCAGCC	0.612000													4	16					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640508	3640508	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:3640508C>A	ENST00000294008.3	-	12	3771	c.3131G>T	c.(3130-3132)aGt>aTt	p.S1044I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1044	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCGCGGGGACTCCCGCCCTG	0.667000								Direct reversal of damage					12	69					1.08611e-07	1.26263e-07	1	1	0
NACA2	342538	broad.mit.edu	37	17	59668532	59668532	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:59668532C>T	ENST00000521764.1	-	1	31	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	4					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTGTGGCTTCGCCCGGCATT	0.582000													3	50					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202045	21202045	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:21202045G>A	ENST00000239347.3	-	1	159	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	40					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTTGTGCCAGGAGTATCAAGG	0.507000													5	70					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161985	161161985	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:161161985C>A	ENST00000367996.5	-	8	2385	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGGCCCTGGACACAGACCGAG	0.547000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	102					1.15088e-07	1.33283e-07	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63215152	63215152	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:63215152G>A	ENST00000263991.5	+	17	3282	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000354487.3_Missense_Mutation_p.E899K|EHBP1_ENST00000496857.1_Intron|EHBP1_ENST00000405289.1_Missense_Mutation_p.E899K|EHBP1_ENST00000405015.3_Intron	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	934						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TACTAACTTAGAAAATGACCT	0.333000													5	115					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218458743	218458743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:218458743G>T	ENST00000366932.3	+	1	115	c.85G>T	c.(85-87)Gga>Tga	p.G29*	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	29						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AATGGTAACTGGAGCCGTAGC	0.542000													13	29					0.000151284	0.000167238	1	1	0
YBX3	8531	broad.mit.edu	37	12	10854585	10854585	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:10854585T>C	ENST00000228251.4	-	8	1227	c.1027A>G	c.(1027-1029)Aac>Gac	p.N343D	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.N274D	NM_003651.4	NP_003642.3			Y box binding protein 3																		GAAGGAGCGTTAGGAGGACGC	0.507000													76	170					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384695	41384695	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:41384695G>T	ENST00000301146.4	-	5	1342	c.801C>A	c.(799-801)ttC>ttA	p.F267L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.F216L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	267						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGAGTCGATGAAGTCCTGTG	0.582000													5	100					0.00307968	0.00324514	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123800158	123800158	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:123800158C>G	ENST00000420886.2	-	21	2984	c.2985G>C	c.(2983-2985)ctG>ctC	p.L995L	SBNO1_ENST00000602398.1_Silent_p.L995L|SBNO1_ENST00000602750.1_Silent_p.L994L|SBNO1_ENST00000267176.4_Silent_p.L994L	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	995							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTTCAGATATCAGAAAGACAT	0.393000													5	66					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	980486	980486	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:980486C>G	ENST00000537687.1	+	10	4077	c.3434C>G	c.(3433-3435)tCt>tGt	p.S1145C	WNK1_ENST00000340908.4_Missense_Mutation_p.S325C|WNK1_ENST00000535572.1_Missense_Mutation_p.S732C|WNK1_ENST00000530271.2_Missense_Mutation_p.S1230C|WNK1_ENST00000315939.6_Missense_Mutation_p.S732C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	890					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGGTTTCATCTTCCCAACCC	0.433000													4	60					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564325	139564325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:139564325C>A	ENST00000358430.3	-	10	1625	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	465						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCATCCTTTTCAGATATTTCT	0.448000													11	62					1.36491e-13	1.69015e-13	1	1	0
UBA6	55236	broad.mit.edu	37	4	68506874	68506874	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:68506874T>C	ENST00000322244.5	-	18	1608	c.1549A>G	c.(1549-1551)Ata>Gta	p.I517V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CATACCTGTATGTGATGAGGA	0.284000													20	127					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926767	83926767	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:83926767G>T	ENST00000345382.2	-	5	2497	c.2412C>A	c.(2410-2412)gcC>gcA	p.A804A	BNC1_ENST00000569704.1_Silent_p.A797A|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	804					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CATCCTGATAGGCTTCCTTAG	0.468000													9	50					0.00448238	0.00470689	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944259	55944259	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:55944259C>A	ENST00000312298.1	+	1	166	c.166C>A	c.(166-168)Cac>Aac	p.H56N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCCAAACTCCACACACCCAT	0.438000													14	265					1.49906e-05	1.70043e-05	1	1	0
C12orf57	113246	broad.mit.edu	37	12	7053317	7053317	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:7053317G>A	ENST00000544681.1	+	1	338	c.33G>A	c.(31-33)ttG>ttA	p.L11L	C12orf57_ENST00000537087.1_Silent_p.L11L|C12orf57_ENST00000540506.2_5'UTR|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000229281.5_Silent_p.L11L			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	11										kidney(1)|large_intestine(1)	2						CGGCGGCCTTGAGCGCTGAGC	0.592000											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	125					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877712	53877712	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:53877712C>T	ENST00000267079.2	-	9	1467	c.1242G>A	c.(1240-1242)agG>agA	p.R414R	MAP3K12_ENST00000547035.1_Silent_p.R447R|MAP3K12_ENST00000547488.1_Silent_p.R447R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	414					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTCCCTCCTCCTCATCACCA	0.547000													6	168					0	0	1	0	0
C17orf50	146853	broad.mit.edu	37	17	34091550	34091550	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:34091550G>A	ENST00000588628.1	+	3	503	c.460G>A	c.(460-462)Gag>Aag	p.E154K	C17orf50_ENST00000586491.1_Missense_Mutation_p.E117K|C17orf50_ENST00000285023.4_Silent_p.R146R			Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	0													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAATGCAGGAGTCTGCACA	0.692000													3	13					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538468	39538468	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:39538468C>T	ENST00000394001.1	-	1	187	c.157G>A	c.(157-159)Ggc>Agc	p.G53S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	53	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GTGCGGCAGCCCAGGCTGGGC	0.627000													12	37					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427384	97427384	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:97427384C>T	ENST00000377075.2	+	1	746	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	216	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGCGCATCGTGCAGAACT	0.592000													5	57					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84485660	84485660	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:84485660G>A	ENST00000416219.2	+	18	1883	c.1794G>A	c.(1792-1794)atG>atA	p.M598I	ATP2C2_ENST00000262429.4_Missense_Mutation_p.M598I|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	598					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGTGAAGATGATAACGGGGG	0.587000													18	40					0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120700	124120700	+	RNA	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:124120700C>A	ENST00000341493.2	+	0	278				OR8G1_ENST00000534473.2_RNA	NM_001002905.1	NP_001002905.1	Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		AACATCATCTCCTACCCTGAA	0.458000													4	81					5.9392e-07	6.82615e-07	1	1	0
CD109	135228	broad.mit.edu	37	6	74472502	74472502	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:74472502G>A	ENST00000437994.2	+	9	1325	c.894G>A	c.(892-894)gaG>gaA	p.E298E	CD109_ENST00000287097.5_Silent_p.E298E|CD109_ENST00000422508.2_Silent_p.E221E	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	298						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATGAAGAGATGAAAAATG	0.299000													5	70					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32092409	32092409	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:32092409T>C	ENST00000403528.2	+	9	1491	c.1106T>C	c.(1105-1107)tTt>tCt	p.F369S	HCRTR1_ENST00000373706.5_Missense_Mutation_p.F369S|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Intron	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	369					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CGGGAGCAGTTTAAGGCTGCC	0.612000													26	73					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64323422	64323422	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:64323422G>C	ENST00000358912.4	-	6	969	c.527C>G	c.(526-528)tCa>tGa	p.S176*		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	176					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTGTCCATCTGATGTCTTCCA	0.418000													3	71					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38056009	38056009	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:38056009G>C	ENST00000328550.2	-	4	1420	c.1321C>G	c.(1321-1323)Cat>Gat	p.H441D	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H441D|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H441D|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.H441D			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACCTGTATGAATTCTCTGA	0.373000													8	101					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114401972	114401972	+	Splice_Site	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:114401972A>G	ENST00000359785.5	-	2	332		c.e2+1		AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000528414.1_Splice_Site|PTPN22_ENST00000460620.1_Splice_Site|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000534519.1_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGAACTTACAGGGCAAAA	0.383000													6	180					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295139	184295139	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:184295139G>C	ENST00000330394.2	+	6	1815	c.1363G>C	c.(1363-1365)Gaa>Caa	p.E455Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	455	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCCCCGTCTGAAGTGCCCAC	0.642000													3	63					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176958461	176958461	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:176958461A>T	ENST00000443375.2	-	7	2556	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	429										kidney(1)|large_intestine(3)	4						CCGCCTGGTCAGCCTCGAGCG	0.677000													3	5					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219895517	219895517	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:219895517C>T	ENST00000341552.5	-	9	1138	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	CCDC108_ENST00000410037.1_Missense_Mutation_p.C287Y|CCDC108_ENST00000453220.1_Missense_Mutation_p.C352Y|CCDC108_ENST00000441968.1_Missense_Mutation_p.C352Y|CCDC108_ENST00000409865.3_Missense_Mutation_p.C341Y	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	352						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCTCCGGGCACTTGTGCTT	0.622000													5	22					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617981	100617981	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:100617981C>A	ENST00000267294.4	-	2	1875	c.1642G>T	c.(1642-1644)Gac>Tac	p.D548Y		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	548					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAGGGCTTGTCACTGGTGTGG	0.498000													6	89					0.00116845	0.00124853	1	1	0
PSMB4	5692	broad.mit.edu	37	1	151373008	151373008	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:151373008G>A	ENST00000290541.6	+	3	492	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGGCGCTCGAAGATGAACC	0.468000													11	168					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015563	33015563	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:33015563G>A	ENST00000280979.4	+	4	1874	c.1704G>A	c.(1702-1704)ttG>ttA	p.L568L	AKAP6_ENST00000557354.1_Silent_p.L568L|AKAP6_ENST00000557272.1_Silent_p.L568L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	568					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AATTGCAATTGCAGTCAGAAA	0.448000													6	59					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949790	45949790	+	Missense_Mutation	SNP	C	C	T	rs151292942		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:45949790C>T	ENST00000531526.1	+	13	1928	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A606V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A575V|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A606V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A575V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	606					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GAGGCTCAGGCCCCGTACCGT	0.657000													14	90					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103870569	103870569	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:103870569A>G	ENST00000296422.7	-	4	368	c.227T>C	c.(226-228)gTg>gCg	p.V76A	SLC9B1_ENST00000394789.3_Missense_Mutation_p.V76A	NM_139173.3	NP_631912	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	76						integral to membrane	solute:hydrogen antiporter activity										ACACCATATCACAAACAGTAT	0.333000													11	35					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71199822	71199822	+	Missense_Mutation	SNP	C	C	T	rs146952271		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:71199822C>T	ENST00000299886.4	+	9	2352	c.2272C>T	c.(2272-2274)Cgg>Tgg	p.R758W		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	758					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGAAATTAATCGGGTTGGAGG	0.423000													12	75					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98666375	98666375	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:98666375G>C	ENST00000261574.5	+	22	2466	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	IPO5_ENST00000539640.1_Missense_Mutation_p.Q619H|IPO5_ENST00000490680.1_Missense_Mutation_p.Q744H	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	744					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATCTCACACAGATGTGGCATT	0.453000													8	133					0	0	1	0	0
SLC16A8	23539	broad.mit.edu	37	22	38477051	38477051	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:38477051G>T	ENST00000320521.5	-	4	1102	c.994C>A	c.(994-996)Ctc>Atc	p.L332I	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	332					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	AGGTCTGTGAGCCCATTGGCC	0.731000													4	8					1	1	1	1	0
GPR141	353345	broad.mit.edu	37	7	37780524	37780524	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:37780524T>A	ENST00000447769.1	+	4	818	c.529T>A	c.(529-531)Tat>Aat	p.Y177N	GPR141_ENST00000334425.1_Missense_Mutation_p.Y177N|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTTACACATATGTGAAAAT	0.398000													14	64					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859821	96859821	+	Missense_Mutation	SNP	C	C	T	rs141265646		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:96859821C>T	ENST00000375360.3	+	7	1151	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R323C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	271							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AATTCGCCAGCGTCATCTGCT	0.448000													22	52					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155736311	155736311	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:155736311C>T	ENST00000437809.1	-	21	3075	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	GON4L_ENST00000361040.5_Missense_Mutation_p.A985T|GON4L_ENST00000368331.1_Missense_Mutation_p.A985T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.A985T	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	985					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAACGGGTGGCAACTGGCTTC	0.537000													18	47					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59358622	59358622	+	Silent	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:59358622A>G	ENST00000399598.2	+	7	950	c.828A>G	c.(826-828)acA>acG	p.T276T		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	276	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAATAGTACACACAGGTAAG	0.348000													8	51					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107429390	107429390	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:107429390G>C	ENST00000415149.2	+	4	410	c.83G>C	c.(82-84)tGg>tCg	p.W28S	BBX_ENST00000416476.2_Missense_Mutation_p.W28S|BBX_ENST00000402543.1_Missense_Mutation_p.W28S|BBX_ENST00000406780.1_Missense_Mutation_p.W28S|BBX_ENST00000325805.8_Missense_Mutation_p.W28S	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTCTTCAGTGGCATCCATTG	0.388000													9	57					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964709	100964709	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:100964709G>T	ENST00000336454.3	+	15	2001	c.1646G>T	c.(1645-1647)aGc>aTc	p.S549I	CDC14A_ENST00000542213.1_Missense_Mutation_p.S491I|CDC14A_ENST00000544534.1_Missense_Mutation_p.S549I|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.S549I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	549					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACCTGAACAGCCCCCCAGGC	0.562000													9	38					2.74318e-10	3.31581e-10	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73460037	73460037	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:73460037G>A	ENST00000556143.1	-	4	1737	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	ZFYVE1_ENST00000553891.1_Silent_p.L339L|ZFYVE1_ENST00000318876.5_Silent_p.L339L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	339						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCCTGGATGAGCTTCTCTG	0.483000													10	43					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990455	38990455	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:38990455G>A	ENST00000355481.4	+	44	7339	c.7208G>A	c.(7207-7209)cGc>cAc	p.R2403H	RYR1_ENST00000359596.3_Missense_Mutation_p.R2403H|RYR1_ENST00000360985.3_Missense_Mutation_p.R2403H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2403	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACCGGCGGCGCGAGCAGTGA	0.701000													5	8					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471542	92471542	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:92471542C>A	ENST00000267622.4	-	11	3151	c.2778G>T	c.(2776-2778)aaG>aaT	p.K926N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	926					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTAGTTGCATCTTACTCTGGT	0.378000			T	PDGFRB	AML								6	108					0.00116845	0.00124853	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71729552	71729552	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:71729552C>T	ENST00000393695.3	-	11	1081	c.750G>A	c.(748-750)caG>caA	p.Q250Q	NUMA1_ENST00000358965.6_Silent_p.Q250Q|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.Q250Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	250					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCATGGCTATCTGTGCATCTG	0.572000			T	RARA	APL								5	28					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79278581	79278581	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:79278581C>T	ENST00000373294.5	+	2	226	c.198C>T	c.(196-198)ccC>ccT	p.P66P	TBX22_ENST00000373296.3_Silent_p.P66P|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	66					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGACAGAGCCCTCAACATCTG	0.517000													6	10					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69682009	69682009	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:69682009C>T	ENST00000340965.3	+	6	1070	c.402C>T	c.(400-402)taC>taT	p.Y134Y	PAQR5_ENST00000561153.1_Silent_p.Y134Y|PAQR5_ENST00000395407.2_Silent_p.Y134Y|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	134					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCATTGCCTACTCTGCATACA	0.587000													7	52					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391915	58391915	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:58391915G>C	ENST00000361987.4	+	2	603	c.523G>C	c.(523-525)Gac>Cac	p.D175H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	175					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTCCATCCATGACCTTCGTTT	0.463000													5	64					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131525070	131525070	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:131525070C>T	ENST00000538204.1	-	4	491	c.426G>A	c.(424-426)gaG>gaA	p.E142E	MBNL3_ENST00000370849.3_Silent_p.E142E|MBNL3_ENST00000394311.2_Silent_p.E96E|MBNL3_ENST00000370839.3_Silent_p.E192E|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370857.3_Silent_p.E192E|MBNL3_ENST00000370844.1_Silent_p.E96E|MBNL3_ENST00000370853.3_Silent_p.E192E	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	192	Pro-rich.				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GGCAATCATTCTCCCCACGGG	0.478000													16	18					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27256976	27256976	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:27256976G>C	ENST00000238788.9	+	2	255	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E65Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	65						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCGGGGCTTTGAGAATATCAT	0.542000													4	90					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1321435	1321435	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:1321435C>G	ENST00000303400.4	+	5	663	c.600C>G	c.(598-600)ctC>ctG	p.L200L	MAEA_ENST00000452175.2_Silent_p.L121L|MAEA_ENST00000505839.1_Silent_p.L152L|MAEA_ENST00000510794.1_Silent_p.L199L|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505177.2_Silent_p.L238L|MAEA_ENST00000264750.6_Silent_p.L159L	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	200	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGTTCAGCCTCAGAATCCAGG	0.592000													7	35					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230459215	230459215	+	Missense_Mutation	SNP	C	C	G	rs138949224		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:230459215C>G	ENST00000321327.2	-	9	1620	c.1621G>C	c.(1621-1623)Gtc>Ctc	p.V541L	PGBD5_ENST00000525115.1_Missense_Mutation_p.V442L|PGBD5_ENST00000391860.1_Missense_Mutation_p.V396L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	442						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCTCTCTGACGAGTCTCTCT	0.602000													7	52					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854235	64854235	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:64854235C>T	ENST00000294258.3	+	5	604	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	151					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CTCAACACGTCTGACTTCTCT	0.562000													21	63					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064363	100064363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:100064363G>T	ENST00000524871.1	+	15	2142	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	CNTN5_ENST00000279463.3_Nonsense_Mutation_p.E618*|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.E618*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.E618*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.E544*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	618	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGATTTCGAGGAAGAGGGTGG	0.373000													16	57					3.45872e-05	3.90148e-05	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120830469	120830469	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:120830469C>G	ENST00000369144.3	-	5	797	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.E190Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	224					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GACTGGCTCTCTGGATTATTA	0.433000													3	36					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644378	158644378	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:158644378T>C	ENST00000368147.4	-	9	1380	c.1200A>G	c.(1198-1200)acA>acG	p.T400T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCCACATCTGTTGGCAGCT	0.502000													10	145					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239184431	239184431	+	Missense_Mutation	SNP	G	G	A	rs148637086	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:239184431G>A	ENST00000254657.3	-	4	680	c.401C>T	c.(400-402)aCg>aTg	p.T134M	PER2_ENST00000440245.1_Missense_Mutation_p.T134M|PER2_ENST00000254658.3_Missense_Mutation_p.T134M|PER2_ENST00000355768.2_Missense_Mutation_p.T134M	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	134					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTGGCCAGCGTACTGGCCTT	0.502000													9	91					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186369030	186369030	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:186369030T>C	ENST00000265029.3	+	6	821	c.720T>C	c.(718-720)tcT>tcC	p.S240S	FETUB_ENST00000382136.3_Silent_p.S203S|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Silent_p.S92S|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.S175S|FETUB_ENST00000450521.1_Silent_p.S240S	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	240	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAAAGGTTCTCTGACTCGAA	0.378000													4	30					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234226	37234226	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:37234226C>T	ENST00000233099.5	-	29	4839	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E1582K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1582							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTGTTAATTTCTGGCAAAGAT	0.338000													4	61					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725419	158725419	+	Missense_Mutation	SNP	C	C	A	rs149252068		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:158725419C>A	ENST00000368144.2	+	1	910	c.814C>A	c.(814-816)Ctt>Att	p.L272I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCTGCTCACCTTGCTGTGTT	0.458000													5	60					0.184627	0.186158	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093424	143093424	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:143093424C>G	ENST00000367603.2	-	5	3194	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E818Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E818Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCGGCTGACTCAGACCTTTCA	0.512000													4	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074153	9074153	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:9074153G>T	ENST00000397910.4	-	3	13496	c.13293C>A	c.(13291-13293)ctC>ctA	p.L4431L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4433	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTTTGCTTATGAGAGTGGTCT	0.488000													21	63					2.54575e-18	3.21123e-18	1	1	0
IMPDH2	3615	broad.mit.edu	37	3	49064411	49064411	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:49064411G>C	ENST00000326739.4	-	6	640	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	201	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CTGCGCTGCAGAATTTCATTT	0.527000													15	233					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75865542	75865542	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:75865542G>C	ENST00000322507.8	-	16	3588	c.3279C>G	c.(3277-3279)ctC>ctG	p.L1093L	COL12A1_ENST00000483888.2_Silent_p.L1093L|COL12A1_ENST00000416123.2_Silent_p.L1093L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1093	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGATGTTTTGAGGTTTCTAG	0.438000													6	66					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165712950	165712950	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:165712950C>A	ENST00000543069.1	-	4	1187	c.606G>T	c.(604-606)caG>caT	p.Q202H	C6orf118_ENST00000230301.8_Missense_Mutation_p.Q306H			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	306										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGCTGCAGGCTGGGACTCCA	0.478000													5	27					0.00116845	0.00124853	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98487965	98487965	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:98487965C>A	ENST00000359863.4	+	4	367	c.158C>A	c.(157-159)aCg>aAg	p.T53K	TRRAP_ENST00000446306.3_Missense_Mutation_p.T53K|TRRAP_ENST00000355540.3_Missense_Mutation_p.T53K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	53					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGAATGTCACGTCATCTCCT	0.333000													8	27					2.74318e-10	3.31581e-10	1	1	0
CHMP6	79643	broad.mit.edu	37	17	78972909	78972909	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:78972909G>T	ENST00000325167.5	+	8	640	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	188					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AAACGTCCCTGTCAAGGCCAG	0.622000													11	75					0.0931896	0.0955468	1	1	0
CASK	8573	broad.mit.edu	37	X	41448780	41448780	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:41448780C>G	ENST00000318588.9	-	13	1266	c.1221G>C	c.(1219-1221)caG>caC	p.Q407H	CASK_ENST00000378163.1_Missense_Mutation_p.Q407H|CASK_ENST00000378166.4_Missense_Mutation_p.Q407H|CASK_ENST00000378158.1_Missense_Mutation_p.Q407H|CASK_ENST00000421587.2_Missense_Mutation_p.Q401H|CASK_ENST00000378154.1_Missense_Mutation_p.Q407H|CASK_ENST00000361962.4_Missense_Mutation_p.Q407H|CASK_ENST00000442742.2_Missense_Mutation_p.Q407H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	407	L27 2.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTTTGGCTCTCTGTACTGCAT	0.358000													7	37					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703758	69703758	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:69703758C>A	ENST00000370598.1	+	11	2654	c.1833C>A	c.(1831-1833)ttC>ttA	p.F611L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	611					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAAAAATTTCTATGCAGGCG	0.453000													5	111					0.184627	0.186158	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2701875	2701875	+	Missense_Mutation	SNP	G	G	A	rs143608876		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:2701875G>A	ENST00000324666.5	+	17	3454	c.3103G>A	c.(3103-3105)Gac>Aac	p.D1035N	FAM193A_ENST00000382839.3_Missense_Mutation_p.D1035N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1057N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1035N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D1035N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1035										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTTTTTCTTCGACATCATGCA	0.562000													5	66					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235298997	235298997	+	Silent	SNP	G	G	A	rs138648273	by1000genomes	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:235298997G>A	ENST00000408888.3	-	10	1208	c.978C>T	c.(976-978)atC>atT	p.I326I	RBM34_ENST00000366606.3_Silent_p.I321I|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	326	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ACCCTTTGCCGATGCCTGTCA	0.463000													4	90					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131570	31131570	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:31131570A>C	ENST00000543774.2	+	3	610	c.275A>C	c.(274-276)cAc>cCc	p.H92P	KAT8_ENST00000448516.2_Missense_Mutation_p.H92P|KAT8_ENST00000219797.4_Missense_Mutation_p.H92P			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	92	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										TTCTATGTACACTACGTGGGC	0.547000													8	68					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100195123	100195123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:100195123C>A	ENST00000325103.6	-	5	537	c.304G>T	c.(304-306)Gag>Tag	p.E102*	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Nonsense_Mutation_p.E102*|HPS1_ENST00000338546.5_Nonsense_Mutation_p.E102*	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	102					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTCCCCCTCGCTCTCGGTG	0.567000									Hermansky-Pudlak syndrome				7	49					3.09899e-07	3.5821e-07	1	1	0
HK1	3098	broad.mit.edu	37	10	71103676	71103676	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:71103676C>T	ENST00000448642.2	+	7	651	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	HK1_ENST00000404387.2_Missense_Mutation_p.R57W|HK1_ENST00000298649.3_Missense_Mutation_p.R52W|HK1_ENST00000359426.6_Missense_Mutation_p.R53W|HK1_ENST00000360289.2_Missense_Mutation_p.R41W|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	53	Glucose-6-phosphate 1 binding.|Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGGCCTCTCCCGGGATTTTAA	0.478000													5	73					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093238	211093238	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:211093238G>A	ENST00000367007.4	-	7	1294	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	KCNH1_ENST00000271751.4_Silent_p.D402D	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	402					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGATCTCATAGTCCCCAATGC	0.522000													24	51					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97873931	97873931	+	Silent	SNP	C	C	T	rs77272847		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:97873931C>T	ENST00000447648.2	-	5	782	c.483G>A	c.(481-483)cgG>cgA	p.R161R	TECPR1_ENST00000542604.1_Silent_p.R82R|TECPR1_ENST00000379795.3_Silent_p.R161R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	161						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGATCCACTTCCGGCGCCGCA	0.572000													6	38					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652374	113652374	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:113652374G>T	ENST00000358160.4	+	12	1718	c.1226G>T	c.(1225-1227)aGt>aTt	p.S409I	GRAMD1C_ENST00000472026.1_Missense_Mutation_p.S242I|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.S138I|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.S204I	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	409						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TATAAAGAAAGTCGGGAAGCA	0.333000													19	92					0.000132079	0.000146273	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184587422	184587422	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:184587422G>C	ENST00000334690.6	+	3	419	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E73Q	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	73																	AACTTCATATGAGTGGTACAT	0.443000													8	79					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134645282	134645282	+	Splice_Site	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:134645282A>C	ENST00000361388.2	+	13	1978		c.e13-1		CALD1_ENST00000424922.1_Splice_Site|CALD1_ENST00000495522.1_Splice_Site|CALD1_ENST00000543443.1_Splice_Site|CALD1_ENST00000393118.2_Splice_Site|CALD1_ENST00000361901.2_Splice_Site|CALD1_ENST00000417172.1_Splice_Site|CALD1_ENST00000361675.2_Splice_Site|CALD1_ENST00000422748.1_Splice_Site|CALD1_ENST00000466704.1_Splice_Site	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1						cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCCCCTTTGTAGGAAACTGCT	0.383000													4	61					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61628119	61628119	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:61628119G>T	ENST00000310827.4	+	1	298	c.81G>T	c.(79-81)cgG>cgT	p.R27R	DCAF7_ENST00000431926.1_Silent_p.R27R|DCAF7_ENST00000415273.2_Silent_p.R27R|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	27					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GGAGTGTGCGGCCCGATAAGC	0.642000													7	39					0.00198382	0.00209767	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56621084	56621084	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:56621084G>C	ENST00000321691.3	-	1	645	c.464C>G	c.(463-465)tCt>tGt	p.S155C	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	155										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGATGAGTAGATTTGGCATC	0.483000													6	82					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4873840	4873840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:4873840C>T	ENST00000321919.9	-	6	682	c.606G>A	c.(604-606)tgG>tgA	p.W202*	GLYR1_ENST00000436648.5_Nonsense_Mutation_p.W121*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.W202*|GLYR1_ENST00000591451.1_Nonsense_Mutation_p.W202*	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	202					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGGTTGGCTGCCATTTAAACG	0.527000													39	109					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438491	35438491	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:35438491C>G	ENST00000322203.6	+	6	645	c.618C>G	c.(616-618)atC>atG	p.I206M	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	206					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCTTATATATCAAGAGCACCA	0.468000													7	32					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288138	151288138	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:151288138G>A	ENST00000368875.2	-	3	1436	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	PI4KB_ENST00000368873.1_Missense_Mutation_p.R274C|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274C|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274C|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286C	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R286C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTTAGAGCGCTGGTGAGTC	0.547000													4	74					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45403742	45403742	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:45403742G>C	ENST00000396128.4	-	3	1038	c.919C>G	c.(919-921)Cag>Gag	p.Q307E	KLHL28_ENST00000355081.2_Missense_Mutation_p.Q321E	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	307										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGTCATTCTGAGGAAAGTAC	0.328000													3	41					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65361000	65361000	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:65361000C>T	ENST00000394216.2	-	2	888	c.665G>A	c.(664-666)cGc>cAc	p.R222H	KCNK7_ENST00000342202.4_Missense_Mutation_p.R222H|KCNK7_ENST00000394217.2_Missense_Mutation_p.R222H|KCNK7_ENST00000340313.4_Missense_Mutation_p.R222H	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	222						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GCTGCGGCCGCGGCCGGGCAG	0.657000													10	23					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411298	43411298	+	Missense_Mutation	SNP	G	G	A	rs150624105		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:43411298G>A	ENST00000187910.2	-	5	1081	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	PSG6_ENST00000402603.4_Missense_Mutation_p.S246L|PSG6_ENST00000292125.2_Missense_Mutation_p.S339L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000													10	168					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994116	53994116	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:53994116G>A	ENST00000396403.4	+	4	758	c.630G>A	c.(628-630)atG>atA	p.M210I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGGTACACATGAGAGAAAAGT	0.348000													16	84					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4598988	4598988	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:4598988C>T	ENST00000261250.3	-	14	1731	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	C12orf4_ENST00000545746.1_Silent_p.L548L	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	548										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GCTTGGATGTCAGAGTGAGTG	0.378000													13	95					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207814437	207814437	+	Splice_Site	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:207814437G>C	ENST00000272852.3	+	2	211	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	55					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCATGGGAGAGGTAAGGAAGG	0.478000													4	39					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929547	121929547	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:121929547C>T	ENST00000265922.3	-	8	2562	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	701																	TTAATTCGGTCCCGAATATCC	0.572000													24	42					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111628734	111628734	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:111628734C>G	ENST00000435970.1	-	33	9664	c.8848G>C	c.(8848-8850)Ggg>Cgg	p.G2950R	REV3L_ENST00000368802.3_Missense_Mutation_p.G3028R|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Missense_Mutation_p.G3028R|REV3L_ENST00000368805.1_Missense_Mutation_p.G3028R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3028					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCTTTCCGCCCTTCAGGTTCA	0.443000								DNA polymerases (catalytic subunits)					4	52					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316897	72316897	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:72316897G>T	ENST00000550746.1	+	18	2053	c.1989G>T	c.(1987-1989)ttG>ttT	p.L663F	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L417F|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L646F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L654F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	663							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAATGCCTTGCCTACACTCT	0.458000													20	159					3.01185e-09	3.59765e-09	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57259332	57259332	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:57259332G>C	ENST00000278426.3	-	9	1230	c.875C>G	c.(874-876)tCt>tGt	p.S292C	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S292C|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	292					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TAAGGGGACAGACCCTGGGGA	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426758	6426758	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:6426758T>G	ENST00000449001.2	+	8	1311	c.817T>G	c.(817-819)Ttg>Gtg	p.L273V	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L305V|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L305V|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L305V	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	305	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCTCTGTGACTTGCTTATCAA	0.617000													7	39					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77792079	77792079	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:77792079G>C	ENST00000407578.2	-	21	3219	c.2953C>G	c.(2953-2955)Ctt>Gtt	p.L985V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L947V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L947V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	947					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGAACAAGAGTGGGACAT	0.388000													6	65					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127522314	127522314	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:127522314C>G	ENST00000262461.2	+	27	3819	c.3630C>G	c.(3628-3630)ttC>ttG	p.F1210L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.F1194L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1210					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTTACCTTCTATTCATAAA	0.428000													3	74					0	0	1	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761504	7761504	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:7761504C>T	ENST00000332439.4	+	1	204	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	CYB5D1_ENST00000571846.1_Missense_Mutation_p.R18C|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Missense_Mutation_p.R18C|LSMD1_ENST00000570555.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	18	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TTTTCAGCGTCGCTATTTCAC	0.587000											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189580	124189580	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:124189580G>A	ENST00000357438.2	-	1	604	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CTGACCGTATGAGACCTACAG	0.453000													3	32					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72338023	72338023	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:72338023T>C	ENST00000389916.4	+	3	267	c.129T>C	c.(127-129)gtT>gtC	p.V43V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	43	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATGGTGGTTCTCATGGACC	0.612000													8	90					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113509975	113509975	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:113509975C>G	ENST00000416899.2	+	7	934	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	MUSK_ENST00000374448.4_Missense_Mutation_p.L270V|MUSK_ENST00000189978.5_Missense_Mutation_p.L270V			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	270	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGACTCAAGACTGCAGCTGTT	0.458000													15	119					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73666766	73666766	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:73666766C>G	ENST00000055077.3	-	2	236	c.176G>C	c.(175-177)aGg>aCg	p.R59T	RFC2_ENST00000352131.3_Missense_Mutation_p.R59T	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	59					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CACCTCTAGCCTGCTCACGGT	0.473000													16	67					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507364	18507364	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:18507364A>G	ENST00000339007.3	-	1	1063	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC25_ENST00000595840.1_Missense_Mutation_p.L137P	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	137						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CCAGCAGAGCAGAGGCTTCTG	0.652000													4	39					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70968770	70968770	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:70968770G>A	ENST00000359655.4	+	15	2400	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	780	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGAAAGAAGAAGGAACCTG	0.328000													6	44					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968262	4968262	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrY:4968262G>T	ENST00000333703.4	+	5	3123	c.2610G>T	c.(2608-2610)atG>atT	p.M870I	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.M881I|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.M881I	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	881					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAAAACATGCAGAATTCTG	0.443000													47	19					3.21987e-24	4.0785e-24	1	1	0
CHRND	1144	broad.mit.edu	37	2	233393005	233393005	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:233393005G>A	ENST00000258385.3	+	4	309	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CHRND_ENST00000543200.1_Missense_Mutation_p.E78K|CHRND_ENST00000457943.2_Silent_p.L2L|CHRND_ENST00000536614.1_Missense_Mutation_p.E93K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	93					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTGGAATGCTGAAGAATTTGG	0.582000													9	28					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637481	142637481	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:142637481C>T	ENST00000409607.3	+	2	292	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	59						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTGGCCTCCTCAGTGGGTGAG	0.552000													7	66					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57608786	57608786	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:57608786C>T	ENST00000340339.4	+	11	1791	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	GPR114_ENST00000349457.3_Missense_Mutation_p.T423M|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	423					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGCGGCCTCACGTCCCTCTTC	0.677000													7	44					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100543592	100543592	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:100543592G>C	ENST00000376355.3	+	7	877	c.846G>C	c.(844-846)ggG>ggC	p.G282G	CLYBL_ENST00000376360.1_Silent_p.G316G|CLYBL_ENST00000376354.1_Silent_p.G282G|CLYBL_ENST00000339105.4_Silent_p.G316G	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	316					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTCCAAGGGAGTATGATCG	0.433000													12	61					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38233799	38233799	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:38233799G>T	ENST00000450525.2	+	4	651	c.160G>T	c.(160-162)Gtc>Ttc	p.V54F	THRA_ENST00000584985.1_Missense_Mutation_p.V54F|THRA_ENST00000264637.4_Missense_Mutation_p.V54F|THRA_ENST00000546243.1_Missense_Mutation_p.V54F|THRA_ENST00000394121.4_Missense_Mutation_p.V54F	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	54					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CGAGCAGTGTGTCGTGTGTGG	0.562000													13	100					3.27435e-08	3.82847e-08	1	1	0
RNGTT	8732	broad.mit.edu	37	6	89554235	89554235	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:89554235C>T	ENST00000369485.4	-	11	1296	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	RNGTT_ENST00000369475.3_Silent_p.Q370Q|RNGTT_ENST00000538899.1_Silent_p.Q310Q|RNGTT_ENST00000265607.6_Silent_p.Q370Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	370	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTCCAACGGGCTGTGACTGAA	0.338000													4	86					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13058999	13058999	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:13058999C>A	ENST00000586534.1	+	3	304	c.243C>A	c.(241-243)gcC>gcA	p.A81A	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000316856.3_Silent_p.A81A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.A81A			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	81	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGACCAAAGCCGGCCAGGGTA	0.627000								Nucleotide excision repair (NER)					6	44					0.248553	0.250199	1	1	0
CPA4	51200	broad.mit.edu	37	7	129944368	129944368	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:129944368G>T	ENST00000222482.4	+	5	463	c.435G>T	c.(433-435)agG>agT	p.R145S	CPA4_ENST00000445470.2_Missense_Mutation_p.R112S|CPA4_ENST00000493259.1_Missense_Mutation_p.R41S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	145					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ACCTGGCGAGGAGGGTGAAGA	0.488000													14	80					1.15088e-07	1.33283e-07	1	1	0
ZDHHC1	29800	broad.mit.edu	37	16	67428785	67428785	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:67428785G>T	ENST00000348579.2	-	11	1583	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	ZDHHC1_ENST00000566075.1_5'UTR	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	414						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGGCGGCTGGGGGCCCTAGGC	0.716000													8	4					0.000274275	0.000299388	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732104	152732104	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:152732104C>G	ENST00000368773.1	+	2	98	c.40C>G	c.(40-42)Caa>Gaa	p.Q14E	KPRP_ENST00000606109.1_Missense_Mutation_p.Q14E	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	14	Gln-rich.		Q -> H (in dbSNP:rs17612167).			cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCCGCTCCAACAGTGCTG	0.582000													8	58					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368833	40368833	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:40368833C>G	ENST00000221347.6	-	28	12522	c.12515G>C	c.(12514-12516)gGg>gCg	p.G4172A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4172	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGAAATCCGCCCGTCGGCCAC	0.617000													33	312					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129944393	129944393	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:129944393G>C	ENST00000222482.4	+	5	488	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	CPA4_ENST00000445470.2_Missense_Mutation_p.E121Q|CPA4_ENST00000493259.1_Missense_Mutation_p.E50Q	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	154					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ACATTCGTTTGAAAACCGGCC	0.527000													13	75					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155243614	155243614	+	Missense_Mutation	SNP	C	C	A	rs138482252		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:155243614C>A	ENST00000357232.4	-	13	2679	c.2680G>T	c.(2680-2682)Gac>Tac	p.D894Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGTTGGCGTCAATCTTAAAG	0.353000													4	35					0.000602214	0.000651506	1	1	0
PLD3	23646	broad.mit.edu	37	19	40882643	40882643	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:40882643G>T	ENST00000409587.1	+	11	1544	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	PLD3_ENST00000356508.5_Missense_Mutation_p.A383S|PLD3_ENST00000409419.1_Missense_Mutation_p.A383S|PLD3_ENST00000409735.4_Missense_Mutation_p.A383S|PLD3_ENST00000409281.1_Missense_Mutation_p.A383S			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	383					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTCTGGCTGCCCTGCGTGA	0.652000													12	62					1.5842e-08	1.86304e-08	1	1	0
MDN1	23195	broad.mit.edu	37	6	90499950	90499950	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:90499950T>C	ENST00000369393.3	-	6	1141	c.1026A>G	c.(1024-1026)ttA>ttG	p.L342L	MDN1_ENST00000428876.1_Silent_p.L342L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	342					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACTGCAGCTAAATATTCAA	0.443000													12	150					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113252886	113252886	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:113252886G>T	ENST00000464951.1	-	11	2207	c.799C>A	c.(799-801)Ccc>Acc	p.P267T	PPM1J_ENST00000309276.6_Missense_Mutation_p.P473T|PPM1J_ENST00000359994.4_Missense_Mutation_p.P267T|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	473	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGTCTCGGGGGGTACCCCGG	0.602000													12	62					6.40141e-05	7.18092e-05	1	1	0
ZSCAN31	64288	broad.mit.edu	37	6	28297140	28297140	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:28297140C>A	ENST00000414429.1	-	6	1224	c.321G>T	c.(319-321)ggG>ggT	p.G107G	ZSCAN31_ENST00000344279.6_Silent_p.G107G|ZSCAN31_ENST00000396838.2_Silent_p.G107G|ZSCAN31_ENST00000439158.1_Silent_p.G107G|ZSCAN31_ENST00000446474.1_Intron					zinc finger and SCAN domain containing 31																		CAGCCTCCTCCCCACTCTCCG	0.532000													12	209					0.00136819	0.0014543	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46825179	46825179	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:46825179C>G	ENST00000339613.2	+	10	1378	c.1123C>G	c.(1123-1125)Ccc>Gcc	p.P375A	HIF3A_ENST00000600383.1_Missense_Mutation_p.P362A|HIF3A_ENST00000377670.4_Missense_Mutation_p.P431A|HIF3A_ENST00000472815.1_Missense_Mutation_p.P362A|HIF3A_ENST00000300862.3_Missense_Mutation_p.P429A|HIF3A_ENST00000244303.6_Missense_Mutation_p.P362A|HIF3A_ENST00000420102.2_Missense_Mutation_p.P380A|AC007193.10_ENST00000596807.1_RNA			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCAGCCACTCCCAGCACCCC	0.672000													4	33					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138341220	138341220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:138341220G>T	ENST00000419765.3	-	6	540	c.507C>A	c.(505-507)taC>taA	p.Y169*	SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Nonsense_Mutation_p.Y17*|SVOPL_ENST00000288513.5_Nonsense_Mutation_p.Y17*	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	169						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TATAGCCTCGGTATTTCGTGG	0.358000													12	112					1.05317e-09	1.26798e-09	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112029786	112029786	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:112029786G>A	ENST00000374566.3	-	4	1017	c.500C>T	c.(499-501)tCa>tTa	p.S167L	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S167L	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	167	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTTGGTTCTGAAGAATAGTA	0.438000													4	63					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	394877	394877	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:394877C>G	ENST00000380956.4	+	3	399	c.273C>G	c.(271-273)ccC>ccG	p.P91P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	91					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGGACCCTCCCACCTGGAAGA	0.517000			T	IGH@	MM								5	135					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369196	69369196	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:69369196T>C	ENST00000306875.4	-	3	755	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	COG8_ENST00000562081.1_Missense_Mutation_p.Q214R|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.Q89R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	214					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCTCAGTTGCTGGATCAGCTG	0.567000													5	12					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398103	5398103	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:5398103C>T	ENST00000341928.2	-	17	2729	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	EPB41L3_ENST00000427684.2_Missense_Mutation_p.E94K|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E797K|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E628K|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E102K|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	797	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGAAGATTTCAGAGCCATCC	0.443000													29	222					0	0	1	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164908	30164908	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:30164908C>T	ENST00000436066.3	+	2	628	c.162C>T	c.(160-162)atC>atT	p.I54I	PLEKHF1_ENST00000592810.1_Silent_p.I54I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	54	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCCGCGCATCTTCTTCCTCT	0.637000													5	100					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508020	26508020	+	Translation_Start_Site	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:26508020A>T	ENST00000376248.1	+	0	182				GAD2_ENST00000259271.3_Missense_Mutation_p.Q112L|GAD2_ENST00000376261.3_Missense_Mutation_p.Q112L			Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)						glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GCGTTTCTGCAAGATGTTATG	0.353000													9	70					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20781783	20781783	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:20781783G>C	ENST00000405555.3	-	10	1665	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	SCARF2_ENST00000266214.5_Nonsense_Mutation_p.S537*	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	532					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCCAGCCCTGAGGGTGGCTC	0.617000													5	31					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904467	37904467	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:37904467G>T	ENST00000316950.6	-	6	1650	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q206K|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q365K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGAAAACTGAGAGAAGGCT	0.383000													13	93					0.00136819	0.0014543	1	1	0
C9orf84	158401	broad.mit.edu	37	9	114454415	114454415	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:114454415T>C	ENST00000394779.3	-	23	3777	c.3533A>G	c.(3532-3534)tAt>tGt	p.Y1178C	C9orf84_ENST00000374287.3_Missense_Mutation_p.Y1217C|C9orf84_ENST00000318737.4_Missense_Mutation_p.Y1217C|C9orf84_ENST00000394777.4_Missense_Mutation_p.Y1143C	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1217										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGGAGTTATAAGCCGGTCT	0.373000													25	39					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45377873	45377873	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:45377873G>A	ENST00000559488.1	+	12	1959	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	ITGB3_ENST00000560629.1_Silent_p.P636P|ITGB3_ENST00000435993.2_Missense_Mutation_p.R601Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	648					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AAGTTTGACCGGGGAGCCCTA	0.478000													8	27					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	83					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601623	61601623	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:61601623A>T	ENST00000583023.1	+	2	211	c.200A>T	c.(199-201)gAc>gTc	p.D67V	KCNH6_ENST00000314672.5_Missense_Mutation_p.D67V|KCNH6_ENST00000581784.1_Missense_Mutation_p.D67V|KCNH6_ENST00000456941.2_Missense_Mutation_p.D67V|KCNH6_ENST00000580652.1_Missense_Mutation_p.D67V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	67	PAS.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGCACCTGCGACTTCCTCACA	0.617000													29	74					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138546	2138546	+	Missense_Mutation	SNP	G	G	C	rs137854420	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:2138546G>C	ENST00000219476.3	+	42	5989	c.5359G>C	c.(5359-5361)Ggc>Cgc	p.G1787R	TSC2_ENST00000401874.2_Missense_Mutation_p.G1720R|TSC2_ENST00000439673.2_Missense_Mutation_p.G1684R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1672R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1744R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1731R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1764R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1787			G -> S.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCCACACCTGGCTATGAGGT	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				3	30					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62965251	62965251	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:62965251G>C	ENST00000393630.3	+	31	4797	c.4406G>C	c.(4405-4407)aGa>aCa	p.R1469T	MON2_ENST00000393629.2_Missense_Mutation_p.R1462T|MON2_ENST00000393632.2_Missense_Mutation_p.R1468T|MON2_ENST00000552738.1_Missense_Mutation_p.R1439T|MON2_ENST00000280379.6_Missense_Mutation_p.R1469T|MON2_ENST00000546600.1_Missense_Mutation_p.R1468T	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1469					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCTCTCCTCAGAGTTCTTTCT	0.423000													11	159					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047533	78047533	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:78047533C>T	ENST00000370801.3	-	8	2311	c.1836G>A	c.(1834-1836)aaG>aaA	p.K612K	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Silent_p.K118K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACTCTCCATCCTTCTTAGGAT	0.403000													5	32					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428933	135428933	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:135428933C>G	ENST00000394143.1	+	6	3359	c.3068C>G	c.(3067-3069)tCt>tGt	p.S1023C	GPR112_ENST00000412101.1_Missense_Mutation_p.S818C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1023C|GPR112_ENST00000287534.4_Missense_Mutation_p.S960C|GPR112_ENST00000394141.1_Missense_Mutation_p.S818C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1023					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATGGCAGTTCTGTGGTGGCT	0.483000													21	66					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43195140	43195140	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:43195140G>A	ENST00000263245.5	-	15	1657	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.P408S|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.P436S	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	480					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGGGCGTTGGGCAGCACACTG	0.567000													11	87					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													3	25					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15633127	15633127	+	Silent	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:15633127T>A	ENST00000321169.5	-	4	655	c.288A>T	c.(286-288)gcA>gcT	p.A96A	HACL1_ENST00000457447.2_Silent_p.A96A|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000451445.2_Silent_p.A96A|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	96					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGTTTGCATTTGCCATACCGC	0.393000													3	9					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2354026	2354026	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:2354026C>G	ENST00000301732.5	-	12	2111	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	ABCA3_ENST00000382381.3_Missense_Mutation_p.E413Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	471					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AAGACGGCCTCCATGTACCAG	0.612000													38	59					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623773	21623773	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:21623773C>T	ENST00000304418.3	-	1	449	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TTCCTCTTGGCCAAGAAGTTC	0.522000													11	31					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716341	19716341	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:19716341C>G	ENST00000284885.3	-	11	1241	c.1208G>C	c.(1207-1209)aGa>aCa	p.R403T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	403	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCGTTCTTGTCTCCCTCCTGG	0.403000													6	108					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201757681	201757681	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:201757681C>T	ENST00000367296.4	+	10	3501	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	NAV1_ENST00000367297.4_Silent_p.G1027G|NAV1_ENST00000295624.6_Silent_p.G1027G|NAV1_ENST00000367295.1_Silent_p.G636G|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1027					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTACAGCGGCTCCCAAATGG	0.622000													11	99					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752516	36752516	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:36752516G>C	ENST00000354618.5	+	4	909	c.685G>C	c.(685-687)Ggc>Cgc	p.G229R	THRAP3_ENST00000469141.2_Missense_Mutation_p.G229R	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	229	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCACCTACGGCACTGGTTC	0.577000			T	USP6	aneurysmal bone cysts								5	46					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551893	21551893	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:21551893C>G	ENST00000415912.2	-	17	1967	c.1842G>C	c.(1840-1842)tgG>tgC	p.W614C	ECE1_ENST00000264205.6_Missense_Mutation_p.W627C|ECE1_ENST00000436918.2_Missense_Mutation_p.W630C|ECE1_ENST00000357071.4_Missense_Mutation_p.W618C|ECE1_ENST00000374893.6_Missense_Mutation_p.W630C	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	630					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATGAGTTCTTCCACCATGGCC	0.622000													4	25					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625135	43625135	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:43625135C>T	ENST00000332857.6	-	4	3580	c.3552G>A	c.(3550-3552)gaG>gaA	p.E1184E		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTTTTTGGCTCTCAGCAGTGA	0.423000													4	75					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129864369	129864369	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:129864369G>T	ENST00000254667.3	+	11	1033	c.754G>T	c.(754-756)Ggc>Tgc	p.G252C	PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Missense_Mutation_p.G194C|PTPRE_ENST00000419012.2_Missense_Mutation_p.G252C	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	252	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCCGACCAAGGCTGCTGGAC	0.517000													10	67					0.000673444	0.000725982	1	1	0
BBS4	585	broad.mit.edu	37	15	73007632	73007632	+	Splice_Site	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:73007632C>A	ENST00000268057.4	+	5	262	c.221C>A	c.(220-222)gCa>gAa	p.A74E	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Splice_Site_p.A82E|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Splice_Site_p.A62E	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	74					adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TTCTTGGCAGCATTGATATTT	0.418000									Bardet-Biedl syndrome				7	53					8.12818e-05	9.01813e-05	1	1	0
PFKP	5214	broad.mit.edu	37	10	3154472	3154472	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:3154472G>A	ENST00000381075.2	+	13	1348	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	PFKP_ENST00000381125.4_Missense_Mutation_p.R383Q	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	383					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTTCGACTCCGAGGGAGGTGA	0.502000													4	46					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984672	33984672	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:33984672G>A	ENST00000262325.7	+	14	2404	c.1851G>A	c.(1849-1851)caG>caA	p.Q617Q	AP2B1_ENST00000312678.8_Silent_p.Q617Q|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.Q579Q|AP2B1_ENST00000538556.1_Silent_p.Q560Q|AP2B1_ENST00000537622.2_Silent_p.Q617Q|AP2B1_ENST00000589344.1_Silent_p.Q617Q	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	617	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCTGGAACAGCCTCAGGTTA	0.488000													4	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	rs17849781		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:7577106G>C	ENST00000420246.2	-	8	964	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000455263.2_Missense_Mutation_p.P278A|TP53_ENST00000269305.4_Missense_Mutation_p.P278A|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	14					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123596255	123596255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:123596255G>C	ENST00000369043.3	-	10	1321	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	ATE1_ENST00000224652.6_Nonsense_Mutation_p.S412*|ATE1_ENST00000369040.3_Nonsense_Mutation_p.S316*|ATE1_ENST00000540606.1_Nonsense_Mutation_p.S405*|ATE1_ENST00000535655.1_Nonsense_Mutation_p.S113*|ATE1_ENST00000543447.1_Nonsense_Mutation_p.S297*	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	412					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTTGGGACATGAATGAATGTA	0.303000													6	47					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878791	89878791	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:89878791C>T	ENST00000345097.4	-	2	146	c.30G>A	c.(28-30)aaG>aaA	p.K10K	FOXN3_ENST00000261302.5_Silent_p.K10K|FOXN3_ENST00000557258.1_Silent_p.K10K|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000555353.1_Silent_p.K10K	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	10					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCTTTCTGGCTTCTTACTGG	0.507000													5	44					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763734	92763734	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:92763734C>A	ENST00000318238.4	-	5	2767	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	SAMD9L_ENST00000411955.1_Missense_Mutation_p.W517C|SAMD9L_ENST00000437805.1_Missense_Mutation_p.W517C	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	517										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCTCTCTGCCATAAATGTG	0.363000													6	98					0.0215528	0.0222859	1	1	0
JPH4	84502	broad.mit.edu	37	14	24040226	24040226	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:24040226G>C	ENST00000397118.3	-	6	2616	c.1714C>G	c.(1714-1716)Ctg>Gtg	p.L572V	JPH4_ENST00000544177.1_Missense_Mutation_p.L237V|JPH4_ENST00000356300.4_Missense_Mutation_p.L572V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	572					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAGCCCCTCAGGACCAGCATG	0.677000													3	41					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102519108	102519108	+	Splice_Site	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:102519108G>A	ENST00000321521.9	+	25	3669	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q	PPIP5K2_ENST00000358359.3_Splice_Site_p.Q1032Q|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Splice_Site_p.Q1032Q			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1032					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATGGCAACAGGTTTTTAAAC	0.433000													4	65					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489805	123489805	+	Missense_Mutation	SNP	G	G	A	rs142151554		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:123489805G>A	ENST00000280562.5	-	6	1139	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R312W|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R312W|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R312W			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	312					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTGGACGACCGAGACGACTTG	0.662000													12	66					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112623239	112623239	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:112623239G>A	ENST00000550722.1	-	61	9488	c.9093C>T	c.(9091-9093)ctC>ctT	p.L3031L	HECTD4_ENST00000377560.5_Silent_p.L3005L|HECTD4_ENST00000430131.2_Silent_p.L2755L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTCTGCCAGGAGATGGAAAA	0.577000													8	16					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256060	84256060	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:84256060G>A	ENST00000308251.4	-	3	1391	c.1323C>T	c.(1321-1323)agC>agT	p.S441S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	441						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGAGGATCCCGCTCAGGATGC	0.622000													6	82					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099419	44099419	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:44099419G>C	ENST00000422989.1	-	2	227	c.72C>G	c.(70-72)atC>atG	p.I24M	IRGQ_ENST00000602269.1_Missense_Mutation_p.I24M	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672000													8	28					0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28315179	28315179	+	Translation_Start_Site	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:28315179T>C	ENST00000335272.5	-	1	77	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PITPNB_ENST00000320996.10_Start_Codon_SNP_p.M1V	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	1					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						ATCAGCACCATCTTCCCGGAA	0.662000													22	52					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56330304	56330304	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:56330304G>C	ENST00000331886.5	+	2	471	c.17G>C	c.(16-18)gGc>gCc	p.G6A	DGKA_ENST00000551156.1_Missense_Mutation_p.G6A|DGKA_ENST00000394147.1_Missense_Mutation_p.G6A	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	6					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AAGGAGAGGGGCCTAATAAGC	0.517000													6	29					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310711	56310711	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:56310711G>T	ENST00000528616.2	-	1	46	c.23C>A	c.(22-24)gCa>gAa	p.A8E		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCTGTGATTGCACTGCCATT	0.418000													3	59					0.004672	0.00489754	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50664577	50664577	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:50664577C>G	ENST00000439308.2	-	9	2227	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.E579Q	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	579					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTCCACCTCTTTGGAGATG	0.562000													7	169					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045373	35045373	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:35045373A>C	ENST00000290374.4	-	2	748	c.272T>G	c.(271-273)cTt>cGt	p.L91R		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	91					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GATGAAGCAAAGACTGGGGGT	0.572000													6	38					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072897	34072897	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:34072897G>T	ENST00000254466.6	-	6	1646	c.1619C>A	c.(1618-1620)gCc>gAc	p.A540D	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A524D	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	540			A -> T (in dbSNP:rs12602590).		cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACAGTGACGGCCCTTAGTGG	0.622000													4	32					4.096e-09	4.87352e-09	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34180299	34180299	+	Silent	SNP	G	G	T	rs143791523	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:34180299G>T	ENST00000373381.4	-	21	3470	c.3294C>A	c.(3292-3294)ggC>ggA	p.G1098G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1058	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAAGGTGTCGCCCACGCCAA	0.662000													6	84					0.0215528	0.0222859	1	1	0
FBF1	85302	broad.mit.edu	37	17	73922415	73922415	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:73922415C>T	ENST00000586717.1	-	10	919	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	FBF1_ENST00000319129.5_Missense_Mutation_p.G216R|FBF1_ENST00000389570.4_Missense_Mutation_p.G216R			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	216										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCCAAACCCCAAGGTGGCC	0.517000													3	15					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218478381	218478381	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:218478381G>A	ENST00000366932.3	+	3	447	c.417G>A	c.(415-417)agG>agA	p.R139R		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	139						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GTGATAAGAGGCTGGAGTGGG	0.383000													15	90					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37349008	37349008	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:37349008G>T	ENST00000373479.4	+	7	1512	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	440					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TGCCCCATTTGTCGGAAGGAC	0.418000													4	96					0.000602214	0.000651506	1	1	0
REXO1	57455	broad.mit.edu	37	19	1825891	1825891	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:1825891G>C	ENST00000170168.4	-	3	2057	c.1963C>G	c.(1963-1965)Ctg>Gtg	p.L655V		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	655						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGAACAGAGTGGTCAGA	0.572000													21	75					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799644	27799644	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:27799644C>A	ENST00000408964.2	+	1	256	c.205C>A	c.(205-207)Cca>Aca	p.P69T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	69										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TACTGTAGAGCCAAAGTTGCA	0.408000													12	43					9.31168e-06	1.0622e-05	1	1	0
CA10	56934	broad.mit.edu	37	17	49713299	49713299	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:49713299C>T	ENST00000451037.2	-	7	1646	c.706G>A	c.(706-708)Gat>Aat	p.D236N	CA10_ENST00000442502.2_Missense_Mutation_p.D236N|CA10_ENST00000340813.6_Missense_Mutation_p.D242N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.D161N|CA10_ENST00000285273.4_Missense_Mutation_p.D236N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	236					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATCGACCCATCGTAAGTGATG	0.398000													5	74					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90969473	90969473	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:90969473A>G	ENST00000268182.5	+	3	411	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	96	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAAAATCTATGATCGAGAA	0.443000													7	93					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650485	94650485	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:94650485G>A	ENST00000260526.6	-	18	2234	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	684	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTATAAAAGGGATACCATCTG	0.318000													9	52					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398694	68398694	+	Missense_Mutation	SNP	G	G	C	rs143241594	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:68398694G>C	ENST00000219334.5	-	5	2118	c.1515C>G	c.(1513-1515)gaC>gaG	p.D505E	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.D505E|SMPD3_ENST00000563226.1_Missense_Mutation_p.D505E	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	505					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CACAGACGACGTCAAATGCCA	0.597000													14	43					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018874	34018874	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:34018874G>A	ENST00000382499.2	-	24	3192	c.3193C>T	c.(3193-3195)Ctt>Ttt	p.L1065F	SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1026F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1065F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1021F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L1026F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1026	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCTGAGGAAGAAGTTCCTCC	0.468000													4	53					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58296315	58296315	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:58296315C>T	ENST00000219299.4	+	6	733	c.654C>T	c.(652-654)caC>caT	p.H218H	CCDC113_ENST00000443128.2_Silent_p.H164H	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	218						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGCCCTTCACGATGTTGATT	0.418000													7	120					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892718	44892718	+	Nonstop_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:44892718T>A	ENST00000341255.3	-	2	1228	c.719A>T	c.(718-720)tAa>tTa	p.*240L		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	0										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GGCGGATTCTTAAAGATTCCG	0.602000													24	120					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6021388	6021388	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:6021388G>C	ENST00000574946.1	+	8	1645	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	WSCD1_ENST00000574232.1_Missense_Mutation_p.E419Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E419Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.E419Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.E303Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	419						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGGGAGATTGAGATGTTTGA	0.542000													5	31					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6146897	6146897	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:6146897C>T	ENST00000446108.1	+	4	888	c.244C>T	c.(244-246)Cct>Tct	p.P82S	RBM17_ENST00000379888.4_Missense_Mutation_p.P82S	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	82					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCCTCAGGATCCTGTTCCCAG	0.428000													11	117					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087350	39087350	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:39087350C>A	ENST00000609713.1	-	3	699	c.110G>T	c.(109-111)aGg>aTg	p.R37M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R37M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CAGGTCATCCCTGGCCTGCTT	0.542000													9	56					0.0477658	0.0491397	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088585	94088585	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:94088585C>A	ENST00000553484.1	+	31	5226	c.5072C>A	c.(5071-5073)tCc>tAc	p.S1691Y	UNC79_ENST00000393151.2_Missense_Mutation_p.S1669Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S1669Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S1492Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1669						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCTCCCTCCGTCCCCAGC	0.542000													4	58					0.150653	0.152917	1	1	0
NDC80	10403	broad.mit.edu	37	18	2616466	2616466	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:2616466G>A	ENST00000261597.4	+	17	2004	c.1822G>A	c.(1822-1824)Gat>Aat	p.D608N		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	608	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGCTAAAGTTGATAGAGAATA	0.269000													7	17					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916238	45916238	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:45916238A>C	ENST00000407215.3	-	5	772	c.691T>G	c.(691-693)Tcc>Gcc	p.S231A	SCRN2_ENST00000584123.1_Missense_Mutation_p.S239A|SCRN2_ENST00000290216.9_Missense_Mutation_p.S231A			Q96FV2	SCRN2_HUMAN	secernin 2	231					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGGGTCAGGGAGAAGATCTGA	0.657000													7	121					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49652580	49652580	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:49652580G>A	ENST00000334186.4	+	27	3701	c.3352G>A	c.(3352-3354)Gag>Aag	p.E1118K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E1109K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1118						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCGGCTGGACGAGGTGGGCGC	0.637000													6	38					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056417	180056417	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:180056417C>A	ENST00000261937.6	-	7	905	c.827G>T	c.(826-828)gGt>gTt	p.G276V	FLT4_ENST00000393347.3_Missense_Mutation_p.G276V|FLT4_ENST00000502649.1_Missense_Mutation_p.G276V|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	276	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCACTTACCCCGCTCTGC	0.677000													7	20					8.12818e-05	9.01813e-05	1	1	0
ZNF320	162967	broad.mit.edu	37	19	53383941	53383941	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:53383941G>A	ENST00000595635.1	-	8	1939	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	ZNF320_ENST00000391781.2_Silent_p.L480L|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AGTGACCTCAGACTAAAGACC	0.388000													5	52					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952430	52952430	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:52952430G>T	ENST00000349258.4	-	4	2060	c.1516C>A	c.(1516-1518)Ctg>Atg	p.L506M	THSD1_ENST00000544466.1_Missense_Mutation_p.L180M|THSD1_ENST00000258613.4_Missense_Mutation_p.L559M	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	559						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTGTCTGTCAGGGGACTCTGA	0.517000													11	131					0.00136819	0.0014543	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95942024	95942024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:95942024C>T	ENST00000334258.5	-	1	149	c.135G>A	c.(133-135)tgG>tgA	p.W45*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.W45*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.W45*	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCTCGGTCTCCCACAGCCTGG	0.642000													7	7					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004847	150004847	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:150004847C>T	ENST00000543571.1	-	4	1925	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M	LATS1_ENST00000392273.3_Missense_Mutation_p.V460M|LATS1_ENST00000253339.5_Missense_Mutation_p.V460M|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	460					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTGACCTCACTGGTATGTTA	0.468000													6	115					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093757	143093757	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:143093757C>G	ENST00000367603.2	-	5	2861	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E707Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E707Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCGTGTCCTCTTCATCCCCT	0.522000													10	120					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75991451	75991451	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:75991451C>G	ENST00000274364.6	+	32	4463	c.4166C>G	c.(4165-4167)tCc>tGc	p.S1389C	IQGAP2_ENST00000396234.3_Missense_Mutation_p.S885C|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S891C|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S885C	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1389					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CACGTGTCATCCGAAAATAAA	0.418000													11	51					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337372	12337372	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:12337372G>T	ENST00000358136.3	+	19	3857	c.3727G>T	c.(3727-3729)Ggc>Tgc	p.G1243C	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1243C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1243					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAATTCTGTAGGCTATGAAAA	0.388000													29	166					3.73148e-12	4.58331e-12	1	1	0
SEPT7	989	broad.mit.edu	37	7	35930307	35930307	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:35930307C>A	ENST00000494488.2	+	10	860	c.860C>A	c.(859-861)aCt>aAt	p.T287N	SEPT7_ENST00000399035.3_Missense_Mutation_p.T300N|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Missense_Mutation_p.T302N|SEPT7_ENST00000350320.6_Missense_Mutation_p.T300N|SEPT7_ENST00000435235.1_Missense_Mutation_p.T248N			Q16181	SEPT7_HUMAN	septin 7	301					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AAAGATGTTACTAATAATGTC	0.348000													7	18					5.4927e-09	6.50987e-09	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21784155	21784155	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:21784155G>A	ENST00000328843.6	+	51	8306	c.8275G>A	c.(8275-8277)Gac>Aac	p.D2759N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D2752N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2759					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAACTGATAGACAAAAAAGA	0.363000									Kartagener syndrome				6	194					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48368261	48368261	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:48368261G>A	ENST00000285737.4	+	12	2023	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	LONP2_ENST00000535754.1_Missense_Mutation_p.E600K	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	644					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGATGTATGAAATGGAGGT	0.468000													5	128					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56147348	56147348	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:56147348G>T	ENST00000342190.6	+	8	861	c.861G>T	c.(859-861)ctG>ctT	p.L287L	SUMF2_ENST00000275607.9_3'UTR|SUMF2_ENST00000434526.2_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000395436.2_3'UTR	NM_001130069.2	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	0						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGGGTCACTGTCATTCCCTG	0.587000											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0.00621372	0.0064913	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33608294	33608294	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:33608294G>A	ENST00000374316.5	+	3	1183	c.123G>A	c.(121-123)gcG>gcA	p.A41A	ITPR3_ENST00000605930.1_Silent_p.A41A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	41					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGAGCCCGCGGCCGGGGACC	0.632000													35	134					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107312612	107312612	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:107312612C>G	ENST00000265715.3	+	4	558	c.334C>G	c.(334-336)Cct>Gct	p.P112A		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	112					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCTGCAGTTCCTGTCGGATA	0.378000									Pendred syndrome				11	73					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868468	117868468	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:117868468C>G	ENST00000297338.2	-	8	1161	c.874G>C	c.(874-876)Gat>Cat	p.D292H		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	292	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTTGTTTGATCAGTCATGGTT	0.363000													19	82					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324150	9324150	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:9324150G>T	ENST00000377403.2	+	5	1900	c.1598G>T	c.(1597-1599)gGg>gTg	p.G533V	H6PD_ENST00000602477.1_Missense_Mutation_p.G544V	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	533	Linker.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CTGGTGCCAGGGCCAGGGCCG	0.627000													18	51					7.45023e-12	9.09586e-12	1	1	0
JOSD2	126119	broad.mit.edu	37	19	51013640	51013640	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:51013640C>T	ENST00000598418.1	-	2	302	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	JOSD2_ENST00000601423.1_Missense_Mutation_p.E17K|JOSD2_ENST00000595669.1_Missense_Mutation_p.E17K|JOSD2_ENST00000391815.3_Missense_Mutation_p.E17K	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	17	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CGCTGCCGTTCGTGGTACACG	0.662000													25	61					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103965	38103965	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:38103965G>C	ENST00000592533.1	+	5	2116	c.1784G>C	c.(1783-1785)aGa>aCa	p.R595T	ZNF540_ENST00000343599.5_Missense_Mutation_p.R595T|ZNF540_ENST00000316433.4_Missense_Mutation_p.R595T|ZNF540_ENST00000589117.1_Missense_Mutation_p.R563T	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAGACCTTAGAATACATCAA	0.398000													8	102					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595879	52595879	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:52595879C>T	ENST00000374001.2	-	5	698	c.559G>A	c.(559-561)Gag>Aag	p.E187K	A1CF_ENST00000395489.2_Missense_Mutation_p.E180K|A1CF_ENST00000373997.3_Missense_Mutation_p.E187K|A1CF_ENST00000373993.1_Missense_Mutation_p.E187K|A1CF_ENST00000282641.2_Missense_Mutation_p.E187K|A1CF_ENST00000373995.3_Missense_Mutation_p.E195K|A1CF_ENST00000395495.1_Missense_Mutation_p.E187K			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CGATGACTCTCATACTCCACG	0.512000													6	88					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799302	209799302	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:209799302C>A	ENST00000391911.1	-	13	2056	c.1667G>T	c.(1666-1668)cGc>cTc	p.R556L	LAMB3_ENST00000367030.3_Missense_Mutation_p.R556L|LAMB3_ENST00000356082.4_Missense_Mutation_p.R556L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	556	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGCCAGGGCGGCAGAGGCA	0.622000													10	25					0.000442599	0.000481396	1	1	0
CCDC11	220136	broad.mit.edu	37	18	47769473	47769473	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:47769473C>G	ENST00000398545.4	-	6	1127	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	337										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTTCTGTTCTCTTATCATATC	0.299000													4	110					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88799172	88799172	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:88799172G>A	ENST00000394480.2	-	3	534	c.213C>T	c.(211-213)atC>atT	p.I71I	NTRK3_ENST00000558676.1_Silent_p.I71I|NTRK3_ENST00000540489.2_Silent_p.I71I|NTRK3_ENST00000355254.2_Silent_p.I71I|NTRK3_ENST00000357724.2_Silent_p.I71I|NTRK3_ENST00000360948.2_Silent_p.I71I|NTRK3_ENST00000557856.1_Silent_p.I71I|NTRK3_ENST00000317501.3_Silent_p.I71I|NTRK3-AS1_ENST00000569588.1_lincRNA	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCGTGATGTTGATACTGGCGT	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			5	50					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44171287	44171287	+	Missense_Mutation	SNP	G	G	A	rs147667334		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:44171287G>A	ENST00000291539.6	+	9	775	c.715G>A	c.(715-717)Gat>Aat	p.D239N	PDE9A_ENST00000398232.3_Missense_Mutation_p.D172N|PDE9A_ENST00000335512.4_Missense_Mutation_p.D179N|PDE9A_ENST00000398224.3_Missense_Mutation_p.D112N|PDE9A_ENST00000539837.1_Missense_Mutation_p.D111N|PDE9A_ENST00000398229.3_Missense_Mutation_p.D105N|PDE9A_ENST00000335440.6_Missense_Mutation_p.D137N|PDE9A_ENST00000398227.3_Missense_Mutation_p.D79N|PDE9A_ENST00000398225.3_Missense_Mutation_p.D198N|PDE9A_ENST00000398236.3_Missense_Mutation_p.D153N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Missense_Mutation_p.D138N|PDE9A_ENST00000349112.3_Missense_Mutation_p.D111N|PDE9A_ENST00000380328.2_Missense_Mutation_p.D186N|PDE9A_ENST00000328862.6_Missense_Mutation_p.D213N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	239					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TCCTCGACGCGATGTTCCCAC	0.567000													51	214					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327410	97327410	+	Translation_Start_Site	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:97327410C>A	ENST00000558553.1	+	0	144				SPATA8_ENST00000328504.3_Silent_p.A39A			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8											large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCAGAAGCCATGACATGTC	0.587000													4	62					0.0215528	0.0222859	1	1	0
BRCA2	675	broad.mit.edu	37	13	32929100	32929100	+	Silent	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:32929100A>G	ENST00000544455.1	+	14	7337	c.7110A>G	c.(7108-7110)aaA>aaG	p.K2370K	BRCA2_ENST00000380152.3_Silent_p.K2370K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2370	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTTGGAAAAATCTTCAAGCA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	121					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889908	55889908	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:55889908C>T	ENST00000313472.3	+	1	60	c.60C>T	c.(58-60)gaC>gaT	p.D20D		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GACTGTCAGACTCTGAAGAGG	0.448000													17	159					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6612621	6612621	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:6612621G>A	ENST00000285599.3	+	14	2310	c.2274G>A	c.(2272-2274)atG>atA	p.M758I	MAN2B2_ENST00000504248.1_Missense_Mutation_p.M707I	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	758					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACTACCCCATGGTTCAGTCGG	0.592000													8	55					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56093924	56093924	+	Missense_Mutation	SNP	C	C	T	rs143392924		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:56093924C>T	ENST00000608263.1	-	4	1610	c.949G>A	c.(949-951)Gac>Aac	p.D317N	CTCFL_ENST00000609232.1_Missense_Mutation_p.D317N|CTCFL_ENST00000608440.1_Missense_Mutation_p.D317N|CTCFL_ENST00000433949.3_Missense_Mutation_p.D112N|CTCFL_ENST00000608903.1_Missense_Mutation_p.D55N|CTCFL_ENST00000423479.3_Missense_Mutation_p.D317N|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.D55N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D317N|CTCFL_ENST00000371196.2_Missense_Mutation_p.D317N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D317N|CTCFL_ENST00000429804.3_Missense_Mutation_p.D317N|CTCFL_ENST00000608425.1_Missense_Mutation_p.D317N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D317N|CTCFL_ENST00000539382.1_Missense_Mutation_p.D112N|CTCFL_ENST00000481655.2_Missense_Mutation_p.D317N|CTCFL_ENST00000608158.1_Missense_Mutation_p.D317N	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|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	p.D317N(3)		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)			ATGTTGCAGTCGTTACACTTG	0.398000													6	75					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15183498	15183498	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:15183498C>G	ENST00000378165.4	-	2	249	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	NMT2_ENST00000378150.1_Missense_Mutation_p.R29S|NMT2_ENST00000535341.1_Missense_Mutation_p.R29S|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	57					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTGGTttctccttttttctc	0.413000													3	45					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414374	121414374	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:121414374C>T	ENST00000393667.3	-	13	5106	c.4996G>A	c.(4996-4998)Gaa>Aaa	p.E1666K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1661K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1661					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AACTGCTTTTCTGTCTCCTTC	0.418000													10	216					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944679	47944679	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:47944679C>G	ENST00000236877.6	-	5	2177	c.1782G>C	c.(1780-1782)aaG>aaC	p.K594N	SLC8A2_ENST00000542837.1_Missense_Mutation_p.K350N|SLC8A2_ENST00000539381.1_Missense_Mutation_p.K57N|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	594	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CATCAACTATCTTCACCTGAA	0.542000													4	8					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66319034	66319034	+	RNA	SNP	C	C	T	rs138699570	by1000genomes	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:66319034C>T	ENST00000502692.1	+	0	543				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGGCAAGATGCGCTTCCACAA	0.542000													12	17					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21133958	21133958	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:21133958C>T	ENST00000602326.1	-	35	5213	c.4630G>A	c.(4630-4632)Gag>Aag	p.E1544K	EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1544K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1538K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1538K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1258K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E1028K|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E1142K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1538	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCACCTCCTCGTCATATAGA	0.448000													11	119					0	0	1	0	0
MEDAG	84935	broad.mit.edu	37	13	31495193	31495193	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:31495193T>G	ENST00000380482.4	+	3	756	c.431T>G	c.(430-432)aTa>aGa	p.I144R	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis																		CACCCCAAGATAAGAAGACAG	0.463000													3	34					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24455741	24455741	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:24455741A>T	ENST00000398319.2	+	11	1699	c.1314A>T	c.(1312-1314)gaA>gaT	p.E438D	CABIN1_ENST00000405822.2_Missense_Mutation_p.E388D|CABIN1_ENST00000263119.5_Missense_Mutation_p.E438D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	438					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATAACTATGAAGTCCAGTCAG	0.453000													3	41					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378569	109378569	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:109378569G>C	ENST00000283195.6	+	19	2741	c.2615G>C	c.(2614-2616)gGc>gCc	p.G872A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	872					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAACTACTGGCCCTTCAGTA	0.338000													17	65					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101075788	101075788	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:101075788G>C	ENST00000360863.6	-	8	1402	c.1208C>G	c.(1207-1209)tCt>tGt	p.S403C	RGS22_ENST00000523287.1_Missense_Mutation_p.S222C|RGS22_ENST00000523437.1_Missense_Mutation_p.S391C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	403					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTCCTATGAGAAATACACCA	0.393000													6	139					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913608	67913608	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:67913608G>C	ENST00000358933.5	+	15	1991	c.1752G>C	c.(1750-1752)ctG>ctC	p.L584L	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	584					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCCTCAGTCTGAGCAGTGAGA	0.627000													7	92					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	853437	853437	+	Silent	SNP	C	C	T	rs150760089		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:853437C>T	ENST00000314167.4	-	24	3350	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	GAK_ENST00000511163.1_Silent_p.P1001P|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1080					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAAATGGGTCCGGGTTCTGAG	0.597000													5	49					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8930555	8930555	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:8930555C>T	ENST00000234590.4	-	4	315	c.196G>A	c.(196-198)Gtt>Att	p.V66I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	66					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATGTGCTCAACAGCCTTTGAG	0.458000													15	28					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90775202	90775202	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:90775202C>A	ENST00000220751.4	+	2	633	c.319C>A	c.(319-321)Cta>Ata	p.L107I	RIPK2_ENST00000540020.1_Intron	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	107	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AAATGAACTCCTACATAGGGT	0.294000													6	56					2.7689e-08	3.24998e-08	1	1	0
REG3A	5068	broad.mit.edu	37	2	79386455	79386455	+	Splice_Site	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:79386455C>A	ENST00000393878.1	-	1	331		c.e1+1		REG3A_ENST00000305165.2_Splice_Site|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGCAATCTCACCTTGAACCTG	0.532000													8	32					2.17888e-05	2.46237e-05	1	1	0
LST1	7940	broad.mit.edu	37	6	31556398	31556398	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:31556398C>A	ENST00000438075.2	+	5	476	c.239C>A	c.(238-240)aCc>aAc	p.T80N	LST1_ENST00000303757.8_3'UTR|LST1_ENST00000339530.4_3'UTR|LST1_ENST00000376086.3_Missense_Mutation_p.T56N|LST1_ENST00000376092.3_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000376093.2_Missense_Mutation_p.T87N|LST1_ENST00000376111.4_Missense_Mutation_p.P25T|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000376102.3_Missense_Mutation_p.T74N|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000418507.2_Missense_Mutation_p.T49N|LST1_ENST00000376110.3_Missense_Mutation_p.T34N|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376089.2_Missense_Mutation_p.T49N	NM_205839.2	NP_995311.2	O00453	LST1_HUMAN	leukocyte specific transcript 1	80					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						AAGAGAGGCACCAAGGAGGAT	0.602000													8	17					0.00448238	0.00470689	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344575	20344575	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:20344575T>C	ENST00000298642.2	+	1	185	c.149T>C	c.(148-150)aTa>aCa	p.I50T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCACAGTTATAGTGGACCCT	0.403000													41	188					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875632	35875632	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:35875632G>C	ENST00000303115.3	+	7	948	c.819G>C	c.(817-819)tgG>tgC	p.W273C	IL7R_ENST00000343305.4_Missense_Mutation_p.G242A|IL7R_ENST00000506850.1_Missense_Mutation_p.G242A	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	273					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTATCGTATGGCCCAGTCTCC	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	68					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416210	103416210	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:103416210C>G	ENST00000361246.2	-	26	3629	c.3341G>C	c.(3340-3342)tGg>tCg	p.W1114S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1114	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCGCGCTGCCATCCCTTCTT	0.562000													11	81					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170642	53170642	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:53170642C>T	ENST00000332411.2	-	1	487	c.434G>A	c.(433-435)gGc>gAc	p.G145D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	145	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGGCCAAAGccaccaggacc	0.577000													4	9					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233251	129233251	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:129233251G>T	ENST00000296266.3	+	26	3352	c.3160G>T	c.(3160-3162)Gcc>Tcc	p.A1054S	IFT122_ENST00000504021.1_Missense_Mutation_p.A880S|IFT122_ENST00000349441.2_Missense_Mutation_p.A893S|IFT122_ENST00000347300.2_Missense_Mutation_p.A944S|IFT122_ENST00000431818.2_Missense_Mutation_p.A853S|IFT122_ENST00000348417.2_Missense_Mutation_p.A1003S|IFT122_ENST00000440957.2_Missense_Mutation_p.A794S|IFT122_ENST00000507564.1_Missense_Mutation_p.A996S	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1003					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTTCACCTTGGCCAAGCAGAG	0.597000													4	19					1	1	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150730931	150730931	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:150730931G>C	ENST00000358849.4	+	2	428	c.335G>C	c.(334-336)gGg>gCg	p.G112A	ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.G112A|ABCB8_ENST00000477092.1_Missense_Mutation_p.G112A|ABCB8_ENST00000297504.6_Missense_Mutation_p.G129A|ABCB8_ENST00000477719.1_Missense_Mutation_p.G112A|ABCB8_ENST00000356058.4_Missense_Mutation_p.G149A	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	129						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G112E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGTCGTGGGGTCTCGCTTT	0.612000													20	29					0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383028	39383028	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:39383028C>A	ENST00000377721.3	+	1	129	c.122C>A	c.(121-123)gCc>gAc	p.A41D	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41D	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCGCCTGCTGTGTG	0.642000													4	86					8.12818e-05	9.01813e-05	1	1	0
LHCGR	3973	broad.mit.edu	37	2	48915164	48915164	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:48915164G>A	ENST00000294954.7	-	11	1793	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S564L|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S529L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	591					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAAGGCAGCTGAGATGGCAAA	0.378000													13	67					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224969	43224969	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:43224969C>G	ENST00000236040.4	-	3	751	c.711G>C	c.(709-711)gtG>gtC	p.V237V	LEPRE1_ENST00000397054.3_Silent_p.V237V|LEPRE1_ENST00000296388.5_Silent_p.V237V	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	237					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCATAGGCCACAAAGTATT	0.562000													19	55					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676064	53676064	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:53676064G>T	ENST00000371486.3	+	4	1233	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	240					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATGACAAGGCCAGACACCT	0.468000													8	34					1.06961e-07	1.24583e-07	1	1	0
ATRIP	84126	broad.mit.edu	37	3	48501967	48501967	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:48501967C>A	ENST00000412052.1	+	8	1697	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D	ATRIP_ENST00000346691.4_Missense_Mutation_p.A505D|ATRIP_ENST00000357105.6_Missense_Mutation_p.A378D|ATRIP_ENST00000320211.3_Missense_Mutation_p.A505D	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	505					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGATTCTGCTGCTGGGGAA	0.557000								Other conserved DNA damage response genes					11	29					0.0931896	0.0955468	1	1	0
NRG3	10718	broad.mit.edu	37	10	84745172	84745172	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:84745172C>A	ENST00000372142.2	+	11	1585	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	NRG3_ENST00000404547.1_Silent_p.V658V|NRG3_ENST00000404576.2_Silent_p.V438V|NRG3_ENST00000537893.1_Silent_p.V284V|NRG3_ENST00000372141.2_Silent_p.V634V|NRG3_ENST00000556918.1_Silent_p.V464V|NRG3_ENST00000545131.1_Silent_p.V284V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	658					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TAGAAACTGTCCAGGAGCAGA	0.458000													7	30					0.27861	0.279992	1	1	0
B4GALT3	8703	broad.mit.edu	37	1	161143735	161143735	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:161143735G>T	ENST00000319769.5	-	5	816	c.594C>A	c.(592-594)ctC>ctA	p.L198L	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Silent_p.L198L|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	198					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TTTCTGGCAAGAGGTCCACAT	0.522000													6	139					5.9392e-07	6.82615e-07	1	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113595068	113595068	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:113595068C>G	ENST00000358160.4	+	5	912	c.420C>G	c.(418-420)ctC>ctG	p.L140L	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CTGCTCGACTCATCCCAAACG	0.299000													12	111					0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073341	39073341	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:39073341C>T	ENST00000229903.4	-	2	518	c.419G>A	c.(418-420)gGc>gAc	p.G140D	SAYSD1_ENST00000373249.1_Missense_Mutation_p.G73D	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	140						integral to membrane											CTCTTCAGGGCCTCGTGTCCC	0.537000													32	162					0	0	1	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043688	26043688	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:26043688G>A	ENST00000357905.2	-	1	197	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	66					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TGTCGTTGACGAAGGAATTCA	0.562000													7	133					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41337172	41337172	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:41337172T>C	ENST00000361937.3	-	24	3261	c.2837A>G	c.(2836-2838)aAc>aGc	p.N946S	INO80_ENST00000401393.3_Missense_Mutation_p.N946S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	946	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAATCCTTGTTCCTCAGGTA	0.473000													6	71					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7032083	7032083	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:7032083G>A	ENST00000409757.4	+	14	2170	c.2046G>A	c.(2044-2046)cgG>cgA	p.R682R	TBC1D14_ENST00000446947.2_Silent_p.R329R|TBC1D14_ENST00000410031.1_Silent_p.R454R|TBC1D14_ENST00000451522.2_Silent_p.R402R|TBC1D14_ENST00000448507.1_Silent_p.R682R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	682						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGACAGCCGGGAAATGGAGA	0.572000													5	38					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764654	89764654	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:89764654C>A	ENST00000289805.5	-	3	431	c.363G>T	c.(361-363)ctG>ctT	p.L121L	SPATA2L_ENST00000335360.7_Silent_p.L121L	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	121										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGAAGCTCTTCAGGAGGAGGT	0.652000													21	190					9.95505e-16	1.2403e-15	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16021300	16021300	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:16021300T>C	ENST00000268712.3	-	18	2214	c.1957A>G	c.(1957-1959)Atg>Gtg	p.M653V	NCOR1_ENST00000395851.1_Missense_Mutation_p.M653V|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Missense_Mutation_p.M544V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	653	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTCCCACCATTTTAGCAATT	0.368000													3	74					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121309827	121309827	+	Splice_Site	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:121309827G>C	ENST00000297848.3	+	35	4584	c.4314G>C	c.(4312-4314)ctG>ctC	p.L1438L	COL14A1_ENST00000309791.4_Splice_Site_p.L1438L|COL14A1_ENST00000247781.3_Splice_Site_p.L1343L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1438	Nonhelical region (NC4).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCCAGGCCTGGTAAGAATTC	0.323000													13	31					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093973	143093973	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:143093973C>G	ENST00000367603.2	-	5	2645	c.1903G>C	c.(1903-1905)Ggg>Cgg	p.G635R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G635R|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G635R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGTCATACCCAACCCTGTCC	0.478000													7	91					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281985	125281985	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:125281985G>T	ENST00000431078.1	+	9	1794	c.1430G>T	c.(1429-1431)aGc>aTc	p.S477I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	477	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCAGACAGCACTTGGGTG	0.478000													4	22					0.014758	0.0153382	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140529851	140529851	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140529851A>T	ENST00000231136.1	+	1	13	c.13A>T	c.(13-15)Aaa>Taa	p.K5*	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGCAAACTAAAGTACAGAA	0.428000													21	84					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42993784	42993784	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:42993784G>T	ENST00000244496.5	+	4	365	c.355G>T	c.(355-357)Gac>Tac	p.D119Y		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	119					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GGTAGCCCGGGACCCTCGCTT	0.413000													6	13					0.0293803	0.0303281	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68215389	68215389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:68215389C>T	ENST00000349223.5	+	7	2151	c.1927C>T	c.(1927-1929)Cag>Tag	p.Q643*	NFATC3_ENST00000575270.1_Nonsense_Mutation_p.Q643*|NFATC3_ENST00000346183.3_Nonsense_Mutation_p.Q643*|NFATC3_ENST00000329524.4_Nonsense_Mutation_p.Q643*|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	643					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACGACCTCAGTGGGAGGT	0.313000													11	42					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	105					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943358	49943358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:49943358A>T	ENST00000257981.6	+	9	1863	c.1603A>T	c.(1603-1605)Aag>Tag	p.K535*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	535					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAAGCCCCTCAAGCAGCGCAT	0.657000													5	26					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103515094	103515094	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:103515094C>T	ENST00000355739.4	+	8	3018	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F	BIVM-ERCC5_ENST00000602836.1_Silent_p.F957F	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGTACAAATTCTGTGTCAAAG	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	34					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286789	33286789	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:33286789C>T	ENST00000374542.5	-	7	2352	c.2148G>A	c.(2146-2148)cgG>cgA	p.R716R	DAXX_ENST00000266000.6_Silent_p.R716R|DAXX_ENST00000414083.2_Silent_p.R641R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	716	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AAGTACCAGGCCGAGGAGGCT	0.572000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								12	64					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59001824	59001824	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:59001824T>A	ENST00000589222.1	+	13	1118	c.1050T>A	c.(1048-1050)caT>caA	p.H350Q	BCAS3_ENST00000408905.3_Missense_Mutation_p.H350Q|BCAS3_ENST00000407086.3_Missense_Mutation_p.H350Q|BCAS3_ENST00000588462.1_Missense_Mutation_p.H350Q|BCAS3_ENST00000390652.5_Missense_Mutation_p.H350Q|BCAS3_ENST00000585744.1_Missense_Mutation_p.H121Q|BCAS3_ENST00000588874.1_Missense_Mutation_p.H121Q			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	350						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCCCTGCCCATGAGAAGCCAG	0.393000													6	81					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500566	44500566	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:44500566G>A	ENST00000270014.2	+	5	685	c.557G>A	c.(556-558)tGt>tAt	p.C186Y	ZNF155_ENST00000407951.2_Missense_Mutation_p.C197Y|ZNF155_ENST00000590615.1_Missense_Mutation_p.C186Y	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	186						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAAAGCATCTGTTACATCTCA	0.413000													19	147					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375372	204375372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:204375372C>A	ENST00000367188.4	-	2	2369	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	664					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTTGCAAATTCTTCCCATGGT	0.358000													6	82					8.12818e-05	9.01813e-05	1	1	0
SLC25A42	284439	broad.mit.edu	37	19	19218736	19218736	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:19218736C>T	ENST00000318596.7	+	7	682	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	177					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCATCCGCATCTCGAGAGAAG	0.582000													5	138					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372868	32372868	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:32372868C>T	ENST00000454136.3	-	2	279	c.275G>A	c.(274-276)aGa>aAa	p.R92K	BTNL2_ENST00000429232.2_Missense_Mutation_p.R92K|BTNL2_ENST00000374995.3_Missense_Mutation_p.R92K|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.R92K|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	92	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACCCAGCCTCTGTACTCCTC	0.532000													5	126					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:37868208C>A	ENST00000406381.2	+	10	1349	c.839C>A	c.(838-840)tCc>tAc	p.S280Y	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			15	257					2.32078e-09	2.77763e-09	1	1	0
TDRD7	23424	broad.mit.edu	37	9	100258131	100258131	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:100258131C>G	ENST00000355295.4	+	17	3558	c.3263C>G	c.(3262-3264)tCa>tGa	p.S1088*	TDRD7_ENST00000422139.2_Nonsense_Mutation_p.S1014*|TDRD7_ENST00000540902.1_Nonsense_Mutation_p.S408*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1088	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GATTTTATGTCAGAGTATCTG	0.378000													7	79					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226253422	226253422	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:226253422A>C	ENST00000366814.3	+	3	315	c.194A>C	c.(193-195)aAa>aCa	p.K65T	H3F3A_ENST00000366816.1_Missense_Mutation_p.K65T|H3F3A_ENST00000366813.1_Missense_Mutation_p.K65T|H3F3A_ENST00000366815.3_Missense_Mutation_p.K65T					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTGATTCGCAAACTTCCCTTC	0.443000			Mis		glioma								5	23					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65156902	65156902	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:65156902C>G	ENST00000317568.5	+	3	319	c.156C>G	c.(154-156)ctC>ctG	p.L52L	FRMD8_ENST00000355991.5_Intron|FRMD8_ENST00000416776.2_Silent_p.L52L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	52	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCCCTCGCTCAGTGCCCATG	0.642000													17	26					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600674	48600674	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:48600674G>T	ENST00000244050.2	+	2	457	c.396G>T	c.(394-396)ttG>ttT	p.L132F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	132	Required for FBXL14-triggered degradation.				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCCCAGGCTTGGGCCAAGTGC	0.607000													13	60					4.3838e-07	5.05759e-07	1	1	0
TREML2	79865	broad.mit.edu	37	6	41166031	41166031	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:41166031C>T	ENST00000483722.1	-	2	377	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	64	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGCCAGGCTCACACTTCT	0.567000													36	120					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347192	140347192	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140347192G>C	ENST00000289269.5	+	1	1373	c.841G>C	c.(841-843)Gcc>Ccc	p.A281P	PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		281	Cadherin 3.				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)			GAAGCTGAATGCCTCAGACCC	0.577000													4	19					0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38022299	38022299	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:38022299G>C	ENST00000443503.2	+	7	979	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.E258Q	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	258	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTTCTTTGAGGGCCTGAG	0.612000													8	35					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	32983903	32983903	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:32983903G>A	ENST00000375030.2	+	9	1004	c.386G>A	c.(385-387)aGa>aAa	p.R129K	C10orf68_ENST00000375025.4_Missense_Mutation_p.R121K|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	121										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAACTTCCTAGAGAGAAAAGA	0.289000													11	17					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336713	30336713	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:30336713G>C	ENST00000375377.1	-	2	130	c.29C>G	c.(28-30)tCt>tGt	p.S10C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	10										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATCCATGAGAGATCAGGAG	0.592000													4	108					0	0	1	0	0
PPM1N	147699	broad.mit.edu	37	19	46005352	46005352	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:46005352G>A	ENST00000456399.2	+	4	410	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	PPM1N_ENST00000396736.2_Missense_Mutation_p.C103Y|PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000396737.2_3'UTR|PPM1N_ENST00000396735.2_3'UTR|PPM1N_ENST00000401593.1_Missense_Mutation_p.C106Y|PPM1N_ENST00000324688.4_3'UTR			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	311	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GACAGCTGTTGTCCTTTGGGG	0.537000													4	11					0	0	1	0	0
MRPL33	9553	broad.mit.edu	37	2	27997316	27997316	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:27997316G>A	ENST00000296102.3	+	3	128	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	MRPL33_ENST00000483992.1_Intron|MRPL33_ENST00000379666.3_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	23					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					AATGGTGAGCGAAGCTGGGAC	0.433000													16	117					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129938637	129938637	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:129938637G>A	ENST00000222482.4	+	2	148	c.120G>A	c.(118-120)ttG>ttA	p.L40L	CPA4_ENST00000445470.2_Silent_p.L40L|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	40					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCAGCAAATTGAGTCAACTAG	0.408000													21	76					0	0	1	0	0
FXYD3	5349	broad.mit.edu	37	19	35611990	35611990	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:35611990G>C	ENST00000435734.2	+	5	308	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	FXYD3_ENST00000605677.1_Missense_Mutation_p.V17L|FXYD3_ENST00000406988.1_Missense_Mutation_p.V17L|FXYD3_ENST00000605550.1_Missense_Mutation_p.V17L|FXYD3_ENST00000603524.1_Missense_Mutation_p.V17L|FXYD3_ENST00000535103.1_Missense_Mutation_p.V74L|FXYD3_ENST00000604804.1_Missense_Mutation_p.V17L|FXYD3_ENST00000603181.1_Missense_Mutation_p.V17L|FXYD3_ENST00000604255.1_Missense_Mutation_p.V74L|FXYD3_ENST00000605552.1_Missense_Mutation_p.V17L|FXYD3_ENST00000344013.6_Missense_Mutation_p.V17L|FXYD3_ENST00000346446.5_Missense_Mutation_p.V17L|FXYD3_ENST00000604404.1_Missense_Mutation_p.V17L|FXYD3_ENST00000603449.1_Missense_Mutation_p.V17L|FXYD3_ENST00000604621.1_Missense_Mutation_p.V17L|FXYD3_ENST00000454903.2_Missense_Mutation_p.V17L|FXYD3_ENST00000406242.3_Missense_Mutation_p.V17L	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	17						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGGCTTTCCTGTCCTGGACGC	0.612000													8	98					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15427254	15427254	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:15427254C>G	ENST00000281513.5	-	42	5106	c.5081G>C	c.(5080-5082)aGt>aCt	p.S1694T	NBAS_ENST00000441750.1_Missense_Mutation_p.S1574T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1694										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCGGGAGACACTGTAACGTTG	0.463000													4	34					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36558266	36558266	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:36558266C>T	ENST00000401500.2	+	6	655	c.620C>T	c.(619-621)tCa>tTa	p.S207L	WDR62_ENST00000270301.7_Missense_Mutation_p.S207L|WDR62_ENST00000388999.3_Missense_Mutation_p.S207L|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	207					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTCCTTCTCAGAGGACAGC	0.498000													38	47					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179290571	179290571	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:179290571C>T	ENST00000356834.3	-	22	3667	c.3630G>A	c.(3628-3630)gaG>gaA	p.E1210E	TBC1D9B_ENST00000519746.1_Silent_p.E369E|TBC1D9B_ENST00000444477.2_Silent_p.E351E|TBC1D9B_ENST00000355235.3_Silent_p.E1193E|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1210						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCACGGACTCCGTCAGGA	0.587000													7	30					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3743972	3743972	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:3743972G>A	ENST00000541714.2	+	15	2341	c.1879G>A	c.(1879-1881)Gtg>Atg	p.V627M	TJP3_ENST00000262968.9_Missense_Mutation_p.V660M|TJP3_ENST00000589378.1_Missense_Mutation_p.V636M|TJP3_ENST00000539908.2_Missense_Mutation_p.V591M|TJP3_ENST00000587686.1_Missense_Mutation_p.V646M|TJP3_ENST00000382008.3_Missense_Mutation_p.V641M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	641	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGACCCGTGGCCGACAT	0.512000													25	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767703	77767703	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:77767703C>G	ENST00000521891.2	+	10	8994	c.8546C>G	c.(8545-8547)cCa>cGa	p.P2849R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2804						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATACTCTGCCAAAACCTGCA	0.488000										HNSCC(33;0.089)			7	28					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100177920	100177920	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:100177920G>A	ENST00000328526.5	-	2	1070	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	XKRX_ENST00000372956.2_Missense_Mutation_p.H156Y|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	156						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CGGATGGAGTGGCCCACCTCC	0.552000													22	71					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9028332	9028332	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:9028332C>G	ENST00000397910.4	-	11	36663	c.36460G>C	c.(36460-36462)Gac>Cac	p.D12154H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12156	SEA 1.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D12154Y(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						AGTCCGAGGTCTTCAGGGTCA	0.567000													5	143					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905127	55905127	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:55905127A>G	ENST00000301529.1	-	1	67	c.68T>C	c.(67-69)cTc>cCc	p.L23P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGGAATCTGGAGCTCTGGACA	0.493000													5	108					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123170792	123170792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:123170792G>T	ENST00000264501.4	+	36	6038	c.5665G>T	c.(5665-5667)Gga>Tga	p.G1889*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.G1889*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.G1889*			Q2LD37	K1109_HUMAN	KIAA1109	1889					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAAAAATGGGGATGGATAAT	0.358000													7	65					1.06961e-07	1.24583e-07	1	1	0
GPD1	2819	broad.mit.edu	37	12	50501359	50501359	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:50501359G>A	ENST00000301149.3	+	6	854	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.A185T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	208					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAATGTAGTGGCCGTGGGGGC	0.572000													49	85					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36360780	36360780	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:36360780C>G	ENST00000373204.4	+	8	1143	c.930C>G	c.(928-930)ttC>ttG	p.F310L	AGO1_ENST00000373206.1_Missense_Mutation_p.F235L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CACAGTATTTCAAGCAGAAAT	0.498000													6	68					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261754	16261754	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:16261754A>C	ENST00000375759.3	+	11	9223	c.9019A>C	c.(9019-9021)Atc>Ctc	p.I3007L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3007					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGGGCCCAGCATCCCAGCAGA	0.612000													12	37					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155631046	155631046	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:155631046G>A	ENST00000405763.3	-	9	1472	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000295566.4_Intron|YY1AP1_ENST00000361831.5_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000404643.1_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000355499.4_Intron					YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TATTCTCTCAGAACTTTCAGT	0.443000													6	27					0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268186	16268186	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:16268186G>A	ENST00000593154.2	+	8	1172	c.641G>A	c.(640-642)gGc>gAc	p.G214D	HSH2D_ENST00000253680.6_Missense_Mutation_p.G214D|HSH2D_ENST00000397372.4_Missense_Mutation_p.G125D|HSH2D_ENST00000588246.1_Missense_Mutation_p.G214D	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	214						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCCGAGAGAGGCCAGAGGGTC	0.582000													9	46					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778077	43778077	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:43778077G>A	ENST00000372476.3	+	12	1811	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	TIE1_ENST00000433781.2_Missense_Mutation_p.D223N	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	578	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGGTGGGCGACGGTTTCCT	0.692000													5	50					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7514264	7514264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:7514264C>A	ENST00000399429.3	-	15	1410	c.1270G>T	c.(1270-1272)Gga>Tga	p.G424*		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	424					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTGTAATCCCTGTGGGCCA	0.393000													16	68					2.5808e-16	3.22865e-16	1	1	0
RNF220	55182	broad.mit.edu	37	1	45088443	45088443	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:45088443C>T	ENST00000355387.2	+	4	1238	c.788C>T	c.(787-789)gCt>gTt	p.A263V	RNF220_ENST00000361799.2_Missense_Mutation_p.A263V|RNF220_ENST00000372247.2_Missense_Mutation_p.A263V|RNF220_ENST00000443020.2_Missense_Mutation_p.A24V			Q5VTB9	RN220_HUMAN	ring finger protein 220	263					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GATGCCATGGCTCCAGGCACC	0.512000													13	40					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105504	11105504	+	Splice_Site	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:11105504G>A	ENST00000358026.2	+	9	1704	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SMARCA4_ENST00000590574.1_Splice_Site_p.E474K|SMARCA4_ENST00000429416.3_Splice_Site_p.E474K|SMARCA4_ENST00000589677.1_Splice_Site_p.E474K|SMARCA4_ENST00000444061.3_Splice_Site_p.E474K|SMARCA4_ENST00000541122.2_Splice_Site_p.E474K|SMARCA4_ENST00000344626.4_Splice_Site_p.E474K|SMARCA4_ENST00000413806.3_Splice_Site_p.E474K|SMARCA4_ENST00000450717.3_Splice_Site_p.E474K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	474	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTCCTGCAGGAATACCTCAA	0.483000			"""F, N, Mis"""		NSCLC								6	43					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767875	77767875	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:77767875C>A	ENST00000521891.2	+	10	9166	c.8718C>A	c.(8716-8718)gaC>gaA	p.D2906E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2861E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2861E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2880E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATAGCGGACCCGAGCTCCC	0.502000										HNSCC(33;0.089)			5	20					8.12818e-05	9.01813e-05	1	1	0
LMF2	91289	broad.mit.edu	37	22	50942126	50942126	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:50942126C>T	ENST00000216080.5	-	14	1911	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	LMF2_ENST00000474879.2_Silent_p.E606E|LMF2_ENST00000380796.3_Silent_p.E493E			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	606						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGGCTTTTCTCCTGTggga	0.692000													6	14					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90436003	90436003	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:90436003G>A	ENST00000394375.3	+	10	1069	c.956G>A	c.(955-957)gGa>gAa	p.G319E	LIPF_ENST00000608620.1_Missense_Mutation_p.G276E|LIPF_ENST00000355843.2_Missense_Mutation_p.G286E|LIPF_ENST00000238983.4_Missense_Mutation_p.G309E	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	309					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TATGACTGGGGAAGCCCAGTT	0.294000													5	56					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79360072	79360072	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:79360072G>C	ENST00000264895.6	+	40	5823	c.5383G>C	c.(5383-5385)Gaa>Caa	p.E1795Q	FRAS1_ENST00000325942.6_Missense_Mutation_p.E1795Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1794					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTGTGTTTGAAACTGATGG	0.383000													5	91					0	0	1	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043719	26043719	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:26043719G>A	ENST00000357905.2	-	1	166	c.167C>T	c.(166-168)tCa>tTa	p.S56L		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	56					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCCTTGGATGAGATGCCGGT	0.547000													5	172					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117062344	117062344	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:117062344G>A	ENST00000284629.2	-	3	337	c.275C>T	c.(274-276)gCa>gTa	p.A92V		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	92					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACCAGCTCTGCATTGGCAAC	0.393000													7	88					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114389001	114389001	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:114389001C>G	ENST00000343508.3	-	2	194	c.24G>C	c.(22-24)tgG>tgC	p.W8C	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	47						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACAGGTTTCCAGCAAAGGA	0.552000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	58					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046946	32046946	+	Silent	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:32046946G>T	ENST00000375244.3	-	11	4440	c.4239C>A	c.(4237-4239)ccC>ccA	p.P1413P	TNXB_ENST00000375247.2_Silent_p.P1413P			P22105	TENX_HUMAN	tenascin XB	1500	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCGCCCGGGGCCGCCCAT	0.647000													7	70					0.00307968	0.00324514	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768272	140768272	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140768272A>T	ENST00000519479.1	+	1	821	c.821A>T	c.(820-822)aAt>aTt	p.N274I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTGTCAATGCCGAGATT	0.468000													26	52					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169172	27169172	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:27169172C>T	ENST00000360046.5	-	2	700	c.635G>A	c.(634-636)gGa>gAa	p.G212E	RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.G212E|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGCTCCCCTCCGTTATAACT	0.592000													5	52					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24384058	24384058	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:24384058C>G	ENST00000382172.3	-	15	1757	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	553					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TATTTTTTGGCAGTGGCTTGA	0.338000													15	63					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62728893	62728893	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:62728893C>T	ENST00000371153.4	-	7	2788	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	KANK4_ENST00000354381.3_Missense_Mutation_p.E176K|KANK4_ENST00000371150.1_Missense_Mutation_p.E160K|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	804										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCTGGACCTCGTGGAGGTAG	0.587000													4	12					0	0	1	0	0
C10orf32-ASMT	100528007	broad.mit.edu	37	10	104620256	104620256	+	Splice_Site	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:104620256G>A	ENST00000299353.6	+	3	221	c.206G>A	c.(205-207)aGt>aAt	p.S69N	C10orf32_ENST00000339834.5_Splice_Site_p.S69N|C10orf32_ENST00000369883.3_Splice_Site_p.S69N																							TTTATGCAGAGTTTAAGGAAG	0.373000													3	38					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135125323	135125323	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:135125323G>A	ENST00000359035.3	+	5	661	c.658G>A	c.(658-660)Gag>Aag	p.E220K	ZNF511_ENST00000368554.4_Missense_Mutation_p.E155K|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.E220K			Q8NB15	ZN511_HUMAN	zinc finger protein 511	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCGGCAGGTGAGAGGCGGAT	0.602000													4	67					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81953251	81953251	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:81953251C>G	ENST00000359376.3	+	20	2431	c.2217C>G	c.(2215-2217)ctC>ctG	p.L739L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	739					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCCCGAGCTCCTGGAGCGCT	0.507000													4	30					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9098689	9098689	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:9098689G>C	ENST00000305997.3	-	2	356	c.158C>G	c.(157-159)tCt>tGt	p.S53C	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	53					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTATAAAAGAGCTAGTTTT	0.343000													5	45					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825918	55825918	+	Silent	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:55825918T>A	ENST00000272313.5	-	4	882	c.555A>T	c.(553-555)ctA>ctT	p.L185L	SMEK2_ENST00000407823.3_Silent_p.L185L|SMEK2_ENST00000345102.5_Silent_p.L185L	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	185						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGTGTTTTCTAGGTTCTCGC	0.388000													9	57					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262507	158262507	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:158262507G>A	ENST00000368170.3	+	4	1011	c.732G>A	c.(730-732)caG>caA	p.Q244Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	244	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGAATGAACAGGAGCAACTGG	0.552000													6	96					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008324	121008324	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:121008324G>A	ENST00000392793.1	+	11	3407	c.3136G>A	c.(3136-3138)Gcc>Acc	p.A1046T	TECTA_ENST00000264037.2_Missense_Mutation_p.A1046T			O75443	TECTA_HUMAN	tectorin alpha	1046					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCACCAACTTGCCACCAATGA	0.567000													9	33					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980746	74980746	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr18:74980746C>A	ENST00000299727.3	+	3	938	c.938C>A	c.(937-939)gCc>gAc	p.A313D		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	313					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTCAGGAAGGCCTATAAACAA	0.428000													17	58					2.39187e-15	2.97394e-15	1	1	0
RAB39A	54734	broad.mit.edu	37	11	107832732	107832732	+	Silent	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:107832732T>A	ENST00000320578.2	+	2	354	c.288T>A	c.(286-288)acT>acA	p.T96T		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	96					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										TTGACATTACTAACCGACGAT	0.353000													9	58					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156232164	156232164	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:156232164G>T	ENST00000302490.8	+	9	1487	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	KCNAB1_ENST00000389636.5_Missense_Mutation_p.A195S|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A213S|KCNAB1_ENST00000490337.1_Missense_Mutation_p.A224S|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A177S	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	224						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AATTGTCCGAGCCATGACACA	0.408000													7	57					2.62144e-13	3.2395e-13	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64627625	64627625	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:64627625G>A	ENST00000498707.1	-	12	2097	c.1755C>T	c.(1753-1755)ccC>ccT	p.P585P	ADAMTS9_ENST00000295903.4_Silent_p.P557P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	585	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P585P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATCTGTCACGGGGACATCCA	0.493000													6	70					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284245	130284245	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:130284245C>T	ENST00000358511.6	+	3	1100	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R357W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	357	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TAACCTCCGACGGGAGGGTGT	0.562000													30	103					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75861654	75861654	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:75861654C>T	ENST00000322507.8	-	20	4238	c.3929G>A	c.(3928-3930)gGa>gAa	p.G1310E	COL12A1_ENST00000483888.2_Missense_Mutation_p.G1310E|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1310E|COL12A1_ENST00000345356.6_Missense_Mutation_p.G146E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1310	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTGATTTTCCATCAGTAAT	0.473000													26	99					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277973	41277973	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:41277973C>G	ENST00000349496.5	+	12	2217	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S646C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S646C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S639C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S646C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	646					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S646F(1)|p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTACTTCACTCTAGGAATGAA	0.473000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				3	60					0	0	1	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193340	20193340	+	RNA	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:20193340C>A	ENST00000558565.2	-	0	30																											AAAATAGCAACAAGGAAAACC	0.483000													24	128					5.61819e-17	7.07217e-17	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78796930	78796930	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:78796930G>C	ENST00000306801.3	+	9	1405	c.1043G>C	c.(1042-1044)cGa>cCa	p.R348P	RPTOR_ENST00000537330.1_Missense_Mutation_p.R163P|RPTOR_ENST00000544334.2_Missense_Mutation_p.R348P|RPTOR_ENST00000570891.1_Missense_Mutation_p.R348P|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	348					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGTCTGTTTCGAAATTTTTTA	0.488000													9	140					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336599	82336599	+	Silent	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:82336599C>A	ENST00000329713.4	-	2	1047	c.612G>T	c.(610-612)gtG>gtT	p.V204V	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	204	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TCACCTCGAACACCGGCTCCT	0.627000													36	84					4.34311e-12	5.32381e-12	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226446901	226446901	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:226446901C>T	ENST00000272907.6	+	4	1181	c.768C>T	c.(766-768)ttC>ttT	p.F256F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	256																	TCAGAGACTTCAGGAAGGAGG	0.582000													5	56					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150491119	150491119	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:150491119C>A	ENST00000447204.2	-	3	617	c.245G>T	c.(244-246)gGa>gTa	p.G82V	TMEM176B_ENST00000429904.2_Missense_Mutation_p.G82V|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G82V|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G82V|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G82V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	82					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACACACTCCAAGAACACA	0.592000													28	94					3.73148e-12	4.58331e-12	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42660696	42660696	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:42660696G>A	ENST00000372572.1	-	10	1110	c.799C>T	c.(799-801)Cct>Tct	p.P267S	FOXJ3_ENST00000361346.1_Missense_Mutation_p.P267S|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P233S|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P267S|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P267S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	267					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCTGCTGAGGAGTTAATGAT	0.373000													9	181					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103298066	103298066	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr10:103298066G>C	ENST00000370187.3	+	13	1712	c.1594G>C	c.(1594-1596)Gat>Cat	p.D532H	BTRC_ENST00000408038.2_Missense_Mutation_p.D496H|BTRC_ENST00000393441.4_Missense_Mutation_p.D491H|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TAAAGTGTGGGATCTTGTGGC	0.448000													4	79					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5784060	5784060	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:5784060G>T	ENST00000419421.2	-	3	302	c.198C>A	c.(196-198)ttC>ttA	p.F66L	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	64										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGCCATCTGGAAACCTGTGG	0.652000													5	66					8.12818e-05	9.01813e-05	1	1	0
CES1	1066	broad.mit.edu	37	16	55855310	55855310	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:55855310C>A	ENST00000422046.2	-	5	941	c.660G>T	c.(658-660)gaG>gaT	p.E220D	CES1_ENST00000361503.4_Missense_Mutation_p.E220D|CES1_ENST00000360526.3_Missense_Mutation_p.E221D			P23141	EST1_HUMAN	carboxylesterase 1	220					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTCCCGCTGACTCTCCAAAGA	0.572000													4	35					0.184627	0.186158	1	1	0
ZNF558	148156	broad.mit.edu	37	19	8922672	8922672	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:8922672G>C	ENST00000601372.1	-	10	1205	c.494C>G	c.(493-495)tCt>tGt	p.S165C	ZNF558_ENST00000301475.1_Missense_Mutation_p.S165C|ZNF558_ENST00000444186.2_Missense_Mutation_p.S94C			Q96NG5	ZN558_HUMAN	zinc finger protein 558	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGTTAGGTTAGATTTCGTGCT	0.363000													17	32					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69993777	69993777	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:69993777G>T	ENST00000543146.2	+	15	1911	c.1429G>T	c.(1429-1431)Gca>Tca	p.A477S	CCT2_ENST00000299300.6_Missense_Mutation_p.A524S|CCT2_ENST00000544368.2_Intron	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	524					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATCAAAGCGGCACCCAGGTA	0.403000													5	43					1	1	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9581978	9581978	+	Silent	SNP	T	T	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:9581978T>A	ENST00000301480.4	-	6	528	c.315A>T	c.(313-315)atA>atT	p.I105I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTACCATTTGTATCCCATTAG	0.338000													4	40					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076134	101076134	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:101076134G>C	ENST00000360863.6	-	8	1056	c.862C>G	c.(862-864)Caa>Gaa	p.Q288E	RGS22_ENST00000523287.1_Missense_Mutation_p.Q107E|RGS22_ENST00000523437.1_Missense_Mutation_p.Q276E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	288					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAAGAGCTTGAGAAGGAGTG	0.353000													5	144					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101138	119101138	+	Splice_Site	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:119101138G>C	ENST00000264245.4	+	5	963		c.e5-1			NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AACCATTCTAGGACCTTGGAA	0.473000													10	102					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749101	152749101	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:152749101C>A	ENST00000334371.2	+	1	254	c.254C>A	c.(253-255)tCc>tAc	p.S85Y		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	85					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCGTAGGTCCCACCGCCAC	0.701000													15	36					0.11911	0.121508	1	1	0
DPP10	57628	broad.mit.edu	37	2	116598366	116598366	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:116598366C>A	ENST00000410059.1	+	25	2703	c.2223C>A	c.(2221-2223)caC>caA	p.H741Q	DPP10_ENST00000310323.8_Missense_Mutation_p.H734Q|DPP10_ENST00000393147.2_Missense_Mutation_p.H745Q|DPP10_ENST00000409163.1_Missense_Mutation_p.H691Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	741					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAATCAAGCACCTAATAAAAG	0.353000													11	24					6.40141e-05	7.18092e-05	1	1	0
OR5H1	26341	broad.mit.edu	37	3	97852116	97852116	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:97852116C>T	ENST00000354565.2	+	1	575	c.575C>T	c.(574-576)tCt>tTt	p.S192F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTACTGATTCTTCTATTAAT	0.318000													6	30					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165429	50165429	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:50165429G>T	ENST00000597198.1	-	6	1139	c.758C>A	c.(757-759)aCa>aAa	p.T253K	IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.T107K|IRF3_ENST00000377139.3_Missense_Mutation_p.T253K|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.T253K|IRF3_ENST00000599144.1_Missense_Mutation_p.T107K|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.T253K|IRF3_ENST00000593922.1_Missense_Mutation_p.T107K|IRF3_ENST00000309877.7_Missense_Mutation_p.T253K			Q14653	IRF3_HUMAN	interferon regulatory factor 3	253	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TCCCCTGTCTGTCAGGGACAT	0.682000													8	36					0.000442599	0.000481396	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57006836	57006836	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:57006836A>G	ENST00000370706.4	+	9	1191	c.947A>G	c.(946-948)aAg>aGg	p.K316R	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K316R|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K316R|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTCAAGTTAAGTGTGTGGCC	0.428000													7	59					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58097587	58097587	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:58097587G>A	ENST00000357272.4	+	17	2719	c.2554G>A	c.(2554-2556)Ggc>Agc	p.G852S	FLNB_ENST00000348383.5_Missense_Mutation_p.G852S|FLNB_ENST00000490882.1_Missense_Mutation_p.G852S|FLNB_ENST00000493452.1_Missense_Mutation_p.G683S|FLNB_ENST00000429972.2_Missense_Mutation_p.G852S|FLNB_ENST00000295956.4_Missense_Mutation_p.G852S|FLNB_ENST00000358537.3_Missense_Mutation_p.G852S|FLNB_ENST00000419752.2_Missense_Mutation_p.G683S			O75369	FLNB_HUMAN	filamin B, beta	852					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGGCAGAAGGCCCAGGGCT	0.577000													5	15					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851527	61851527	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:61851527A>C	ENST00000577390.1	-	7	2087	c.1133T>G	c.(1132-1134)gTc>gGc	p.V378G	CDH8_ENST00000584337.1_Missense_Mutation_p.V378G|CDH8_ENST00000577730.1_Missense_Mutation_p.V378G|CDH8_ENST00000299345.6_Missense_Mutation_p.V378G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	378	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CACGATTTTGACTGTCGCCGT	0.478000													4	32					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131186	147131186	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:147131186A>G	ENST00000282928.4	+	3	1921	c.1192A>G	c.(1192-1194)Agc>Ggc	p.S398G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	398	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGGCCGCCAGCTCTGGCTA	0.622000													4	67					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343213	48343213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:48343213C>T	ENST00000221996.7	+	4	1095	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	CRX_ENST00000539067.1_Nonsense_Mutation_p.Q297*|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	297					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTGGAAGTTTCAGATCTTGTA	0.532000													26	55					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935088	49935088	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:49935088C>T	ENST00000296474.3	-	6	1938	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	MST1R_ENST00000344206.4_Silent_p.E637E	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	637	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACACTCAAACTCCTCTACAA	0.602000													3	37					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49418470	49418470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:49418470G>A	ENST00000301067.7	-	50	15942	c.15943C>T	c.(15943-15945)Caa>Taa	p.Q5315*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAATAGTTTTGACAGCTCTCC	0.552000													6	18					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099669	168099669	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:168099669C>G	ENST00000409195.1	+	9	1856	c.1767C>G	c.(1765-1767)atC>atG	p.I589M	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I589M|XIRP2_ENST00000409273.1_Missense_Mutation_p.I367M|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	414					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGATTCCATCAACAATGGCT	0.408000													4	45					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132635830	132635830	+	Silent	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:132635830C>G	ENST00000330579.1	+	11	1031	c.990C>G	c.(988-990)ctC>ctG	p.L330L	NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	330					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ACCGGAAGCTCTACGGCCTCT	0.647000													10	81					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660235	46660235	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:46660235G>C	ENST00000544460.1	+	1	4624	c.4370G>C	c.(4369-4371)aGa>aCa	p.R1457T	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1457T	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1457					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTCAAGACAGATGGGAAGTT	0.373000													5	119					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228718	121228718	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:121228718G>C	ENST00000297848.3	+	14	1996	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.E576Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.E481Q|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	576	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATGGGACTGAAATCAATGA	0.398000													4	81					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17301931	17301931	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:17301931T>G	ENST00000595618.1	+	20	2866	c.2714T>G	c.(2713-2715)cTc>cGc	p.L905R	MYO9B_ENST00000594824.1_Missense_Mutation_p.L905R|MYO9B_ENST00000397274.2_Missense_Mutation_p.L905R	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	905	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTCCAGGTGCTCCTGCCCAAG	0.527000													3	9					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40034492	40034492	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:40034492C>G	ENST00000372857.3	-	6	1650	c.858G>C	c.(856-858)gaG>gaC	p.E286D	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.E286D|PABPC4_ENST00000372856.3_Missense_Mutation_p.E286D|PABPC4_ENST00000372862.3_Missense_Mutation_p.E286D	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	286					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACTAATTCTCTCCTGTTTCA	0.413000													36	193					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34950641	34950641	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr21:34950641C>G	ENST00000303071.5	-	10	1739	c.1673G>C	c.(1672-1674)aGa>aCa	p.R558T	DONSON_ENST00000453626.1_3'UTR|DONSON_ENST00000432378.1_Missense_Mutation_p.R487T|DONSON_ENST00000303113.6_Missense_Mutation_p.R544T	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	558					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AATGTAGTCTCTCAGCACCAC	0.393000													4	96					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36971043	36971043	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:36971043C>T	ENST00000282516.8	+	7	1175	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P226S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	226					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTTCTGGTCCGTTGTCTGG	0.378000													5	59					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38146433	38146433	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:38146433C>G	ENST00000378505.2	-	15	1995	c.1819G>C	c.(1819-1821)Gaa>Caa	p.E607Q	RPGR_ENST00000342811.3_Missense_Mutation_p.E607Q|RPGR_ENST00000309513.3_Missense_Mutation_p.E545Q|RPGR_ENST00000318842.7_Missense_Mutation_p.E607Q|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.E812Q|RPGR_ENST00000338898.3_3'UTR	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	607	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcatttgcttctacctcttgc	0.433000													5	26					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306022	2306022	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:2306022C>A	ENST00000290974.2	-	8	2384	c.2045G>T	c.(2044-2046)gGc>gTc	p.G682V	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G652V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G612V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	682					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TTACCTGGAGCCCGACAGGGC	0.637000													3	42					6.4e-05	7.18092e-05	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	39					0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64847002	64847002	+	Silent	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:64847002G>A	ENST00000275517.3	-	5	673	c.501C>T	c.(499-501)ggC>ggT	p.G167G	CDCA5_ENST00000404147.3_Silent_p.G167G	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	167					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCCCTCGAAGCCAAAGCAGG	0.627000													15	36					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38066693	38066693	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr8:38066693C>A	ENST00000287322.4	+	4	1067	c.796C>A	c.(796-798)Ccc>Acc	p.P266T	BAG4_ENST00000432471.2_Missense_Mutation_p.P230T	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	266					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CTCAGCACCACCCGGCAATCT	0.582000													7	44					0.000157383	0.00017335	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18808886	18808886	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:18808886A>G	ENST00000400664.1	+	1	1463	c.1411A>G	c.(1411-1413)Atc>Gtc	p.I471V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	471						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCCGGACATCTACGGGTG	0.657000													5	56					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108686315	108686315	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:108686315C>T	ENST00000565488.1	-	8	1167	c.948G>A	c.(946-948)ctG>ctA	p.L316L	SLC25A24_ENST00000370041.4_Silent_p.L297L	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	316					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCTACAGCCAGCCTGGTTT	0.353000													9	83					0	0	1	0	0
CXCL17	284340	broad.mit.edu	37	19	42937150	42937150	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:42937150G>C	ENST00000601181.1	-	3	455	c.240C>G	c.(238-240)ttC>ttG	p.F80L	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	80					angiogenesis|cell differentiation|chemotaxis	extracellular region				large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				CATTGCCCTTGAAATGATCAC	0.453000													6	33					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454401	53454401	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:53454401C>T	ENST00000357666.4	-	5	927	c.627G>A	c.(625-627)aaG>aaA	p.K209K	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.K209K|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGAGGAAATTCTTCCCATACT	0.368000													14	64					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152671416	152671416	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:152671416C>G	ENST00000367255.5	-	72	12389	c.11788G>C	c.(11788-11790)Gag>Cag	p.E3930Q	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3930Q|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3854Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3930					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTGGAGCTCACTGTTGTAG	0.507000										HNSCC(10;0.0054)			7	46					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36776032	36776032	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr13:36776032C>T	ENST00000379881.3	-	2	335	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A160T|SOHLH2_ENST00000317764.6_Missense_Mutation_p.A83T|SOHLH2_ENST00000554962.1_Missense_Mutation_p.A160T	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AACTTGATGGCTTCCAGCTCC	0.378000													5	76					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276448	75276448	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr16:75276448C>A	ENST00000546196.1	-	2	2118	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S	BCAR1_ENST00000393420.6_Missense_Mutation_p.A185S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000538440.2_Missense_Mutation_p.A185S|BCAR1_ENST00000418647.3_Missense_Mutation_p.A231S|BCAR1_ENST00000420641.3_Missense_Mutation_p.A203S|BCAR1_ENST00000162330.5_Missense_Mutation_p.A185S|BCAR1_ENST00000393422.2_Missense_Mutation_p.A203S|BCAR1_ENST00000542031.2_Missense_Mutation_p.A183S			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	185	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCATCCCGGCAGAAGGTGGC	0.657000													11	76					5.50884e-06	6.29581e-06	1	1	0
ZNF850	342892	broad.mit.edu	37	19	37238956	37238956	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:37238956G>T	ENST00000591344.1	-	5	3144	c.2986C>A	c.(2986-2988)Cta>Ata	p.L996I	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGTCGAATTAGTTCTGAGCCG	0.418000													5	10					0.000602214	0.000651506	1	1	0
CUL9	23113	broad.mit.edu	37	6	43184043	43184043	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:43184043G>C	ENST00000252050.4	+	31	6168	c.6084G>C	c.(6082-6084)ttG>ttC	p.L2028F	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.L1918F|CUL9_ENST00000372647.2_Missense_Mutation_p.L2000F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2028					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCACCTTTTGGCTCATTCCC	0.602000													7	23					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98942128	98942128	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:98942128G>A	ENST00000432884.2	+	6	702	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	ARPC1A_ENST00000262942.5_Missense_Mutation_p.E128K			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	128					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CTTTGAGTCTGAAAATGACTG	0.418000													6	30					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148009471	148009471	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:148009471C>A	ENST00000369219.1	-	16	1852	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	612	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAGTGACTCCTGCAAGACTT	0.478000													7	680					0.00621372	0.0064913	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415773	86415773	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr7:86415773A>G	ENST00000361669.2	+	3	1764	c.665A>G	c.(664-666)tAc>tGc	p.Y222C	GRM3_ENST00000439827.1_Missense_Mutation_p.Y222C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.Y220C|GRM3_ENST00000536043.1_Missense_Mutation_p.Y94C|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	222					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGGGTGATTACGGGGAGACA	0.617000													5	38					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	24					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204512018	204512018	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:204512018G>C	ENST00000367182.3	+	8	780	c.618G>C	c.(616-618)ttG>ttC	p.L206F	MDM4_ENST00000454264.2_Missense_Mutation_p.L206F|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	206					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TAGGAAACTTGAGAAGCAACT	0.388000			A		"""GBM, bladder, retinoblastoma"""								4	102					0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67168610	67168610	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:67168610C>T	ENST00000376745.4	-	2	264	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	PPP1CA_ENST00000312989.7_Missense_Mutation_p.C50Y|PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	39					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGATTTCAGGCACAGACCGCG	0.627000													9	58					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113574317	113574317	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:113574317G>C	ENST00000509061.1	+	13	1825	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	LARP7_ENST00000324052.6_Missense_Mutation_p.E501Q|LARP7_ENST00000344442.5_Missense_Mutation_p.E501Q	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	501					RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TAAAACTCCTGAGGATGCTCA	0.378000													4	58					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100474981	100474981	+	Silent	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:100474981G>C	ENST00000273962.3	-	6	918	c.606C>G	c.(604-606)gcC>gcG	p.A202A	TRMT10A_ENST00000394876.2_Silent_p.A202A|TRMT10A_ENST00000394877.3_Silent_p.A202A	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		CAATCACATAGGCCTTTGATT	0.328000													9	43					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517810	176517810	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:176517810C>A	ENST00000292408.4	+	4	665	c.420C>A	c.(418-420)caC>caA	p.H140Q	FGFR4_ENST00000292410.3_Missense_Mutation_p.H140Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.H140Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.H140Q|FGFR4_ENST00000393648.2_Missense_Mutation_p.H140Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	140					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGAATAGGCACAGTTACCCCC	0.557000										TSP Lung(9;0.080)			16	37					2.5808e-16	3.22865e-16	1	1	0
RBMX	27316	broad.mit.edu	37	X	135957456	135957456	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chrX:135957456T>C	ENST00000562646.1	-	7	897	c.743A>G	c.(742-744)cAt>cGt	p.H248R	RBMX_ENST00000565438.1_Missense_Mutation_p.H120R|RBMX_ENST00000320676.7_Missense_Mutation_p.H248R|RBMX_ENST00000431446.3_Missense_Mutation_p.I140V|RBMX_ENST00000570135.1_Missense_Mutation_p.H113R			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	248						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGAACTGGAATGACCATAATC	0.393000													11	27					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901226	24901226	+	Silent	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr14:24901226C>T	ENST00000251343.5	+	3	898	c.759C>T	c.(757-759)taC>taT	p.Y253Y	KHNYN_ENST00000556842.1_Silent_p.Y253Y|KHNYN_ENST00000553935.1_Silent_p.Y253Y			O15037	KHNYN_HUMAN	KH and NYN domain containing	253										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAGACACTTACGCTGTGGAGA	0.617000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	35					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19356993	19356993	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr9:19356993C>G	ENST00000380432.2	+	22	3983	c.3950C>G	c.(3949-3951)tCt>tGt	p.S1317C	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1553C|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1602C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1317						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCAAGTACCTCTGGTGACAGT	0.368000													12	65					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877713	53877713	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:53877713C>T	ENST00000267079.2	-	9	1466	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R447K|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R447K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	414					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTCCCTCCTCCTCATCACCAG	0.542000													5	171					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50488336	50488336	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:50488336T>C	ENST00000394963.4	+	10	1648	c.1250T>C	c.(1249-1251)aTt>aCt	p.I417T	SMARCD1_ENST00000381513.4_Missense_Mutation_p.I417T|SMARCD1_ENST00000548573.1_Missense_Mutation_p.I215T	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	417	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CAACAGGAGATTGCTACTCTA	0.468000													20	85					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337283	33337283	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr20:33337283C>A	ENST00000374796.2	-	10	5285	c.2715G>T	c.(2713-2715)aaG>aaT	p.K905N	NCOA6_ENST00000359003.2_Missense_Mutation_p.K905N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	905	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTATTTTGCTTATTGTTTA	0.423000													18	66					2.94398e-08	3.44883e-08	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269826	28269826	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:28269826A>T	ENST00000405948.2	+	7	2615	c.2195A>T	c.(2194-2196)tAt>tTt	p.Y732F	PGBD1_ENST00000259883.3_Missense_Mutation_p.Y732F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	732					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GTAAAAGTGTATGATGAATGC	0.393000													8	47					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44586256	44586256	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:44586256C>T	ENST00000421176.3	+	4	449	c.233C>T	c.(232-234)tCa>tTa	p.S78L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGGGAATTCAGGTAAGAAC	0.443000													12	29					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31617922	31617922	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:31617922C>T	ENST00000295770.2	+	2	558	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	117					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TCTTGCATCTCATGGGTTCTA	0.303000													5	61					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899764	202899764	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr2:202899764G>C	ENST00000286201.1	+	1	455	c.394G>C	c.(394-396)Gag>Cag	p.E132Q		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	132	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGGGCTGCGAGGCGCTCAT	0.657000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	60					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086391	134086391	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:134086391C>G	ENST00000514516.1	-	3	1341	c.1163G>C	c.(1162-1164)cGg>cCg	p.R388P	AMOTL2_ENST00000422605.2_Missense_Mutation_p.R330P|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R330P|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R330P	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	330										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CCTCTGCAGCCGCTCATTGTC	0.647000													15	93					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59384757	59384757	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:59384757G>C	ENST00000348370.4	+	13	3194	c.2761G>C	c.(2761-2763)Gat>Cat	p.D921H	RNF111_ENST00000561186.1_Missense_Mutation_p.D938H|RNF111_ENST00000434298.1_Missense_Mutation_p.D938H|RNF111_ENST00000557998.1_Missense_Mutation_p.D929H|RNF111_ENST00000559209.1_Missense_Mutation_p.D930H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	929					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTGCAAACAAGATGGGGAAGA	0.363000													3	19					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125482969	125482969	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:125482969C>G	ENST00000392708.4	+	13	1610	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	STT3A_ENST00000529196.1_Missense_Mutation_p.S484C|STT3A_ENST00000531491.1_Missense_Mutation_p.S392C	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	484					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAGGCCTACTCTTCTCCGTCC	0.458000													9	138					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812388	140812388	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr5:140812388G>A	ENST00000252085.3	+	1	2204	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACCTCAGACCTCACTCT	0.652000													17	136					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37865593	37865593	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:37865593G>C	ENST00000406381.2	+	6	882	c.372G>C	c.(370-372)ttG>ttC	p.L124F	ERBB2_ENST00000584601.1_Missense_Mutation_p.L124F|ERBB2_ENST00000540147.1_Missense_Mutation_p.L124F|ERBB2_ENST00000269571.5_Missense_Mutation_p.L154F|ERBB2_ENST00000541774.1_Missense_Mutation_p.L139F|ERBB2_ENST00000584450.1_Missense_Mutation_p.L154F|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.L124F|ERBB2_ENST00000540042.1_Missense_Mutation_p.L124F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	154					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GAGGGGTCTTGATCCAGCGGA	0.542000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	115					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161143442	161143442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr1:161143442delG	ENST00000319769.5	-	6	978	c.756delC	c.(754-756)cccfs	p.P252fs	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Del_p.P252fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	252					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGTATTCATTGGGGAAGCCAT	0.552													14	356	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													5	2	---	---	---	---					
OR5AC2	81050	broad.mit.edu	37	3	97806750	97806750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr3:97806750delC	ENST00000358642.2	+	1	734	c.734delC	c.(733-735)gccfs	p.A245fs		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACATGCGGCGCCCATCTGCTT	0.423													8	50	---	---	---	---					
KLB	152831	broad.mit.edu	37	4	39450064	39450065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr4:39450064_39450065insG	ENST00000257408.4	+	5	2990_2991	c.2893_2894insG	c.(2893-2895)aggfs	p.R965fs		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	965	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GATCAGCAGCAGGGGCTTCCCT	0.396													24	48	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87966373	87966373	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr6:87966373delA	ENST00000369577.3	+	8	3069	c.3026delA	c.(3025-3027)gaafs	p.E1009fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E1004fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTAAATTCAGAAACTCTCAAA	0.358													9	30	---	---	---	---					
OR5A1	219982	broad.mit.edu	37	11	59210764	59210775	+	In_Frame_Del	DEL	CCTGGCCTGGAA	CCTGGCCTGGAA	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:59210764_59210775delCCTGGCCTGGAA	ENST00000302030.2	+	1	148_159	c.123_134delCCTGGCCTGGAA	c.(121-135)accctggcctggaac>acc	p.LAWN42del		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTTACCACCCTGGCCTGGAACCTGGCCCTC	0.495													9	115	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293045	62293045	+	Frame_Shift_Del	DEL	C	C	-	rs143940604	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr11:62293045delC	ENST00000378024.4	-	5	9118	c.8844delG	c.(8842-8844)gggfs	p.G2948fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2948					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAACTTGGGCCCTTTCAACT	0.507													18	214	---	---	---	---					
KNTC1	9735	broad.mit.edu	37	12	123087221	123087222	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr12:123087221_123087222delGC	ENST00000333479.7	+	46	4936_4937	c.4759_4760delGC	c.(4759-4761)gccfs	p.A1587fs	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Frame_Shift_Del_p.A12fs|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1587					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCCATCAGCTGCCCAAACTAGA	0.371													13	35	---	---	---	---					
FAH	2184	broad.mit.edu	37	15	80454632	80454632	+	Frame_Shift_Del	DEL	G	G	-	rs139268254	byFrequency	TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr15:80454632delG	ENST00000539156.1	+	4	2437	c.199delG	c.(199-201)gtcfs	p.V67fs	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Frame_Shift_Del_p.V137fs|FAH_ENST00000261755.5_Frame_Shift_Del_p.V137fs|FAH_ENST00000561421.1_Frame_Shift_Del_p.V137fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	137					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTACCAACGTCGGAATCAT	0.463									Tyrosinemia, type 1				12	124	---	---	---	---					
HOXB3	3213	broad.mit.edu	37	17	46628160	46628160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr17:46628160delC	ENST00000470495.1	-	2	2279	c.832delG	c.(832-834)gccfs	p.A278fs	HOXB3_ENST00000472863.1_Frame_Shift_Del_p.A205fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.A278fs|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.A278fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.A278fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.A144fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.A146fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.A205fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.A146fs|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	278					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GAGTGTAAGGCGTTCATGAAG	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	151	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51220108	51220108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr19:51220108delG	ENST00000293441.1	-	1	87	c.69delC	c.(67-69)ggcfs	p.G23fs	SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G23fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G23fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	23					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGACTCTGAGCCCCCCTCGG	0.731													5	7	---	---	---	---					
THAP7	80764	broad.mit.edu	37	22	21354988	21354989	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:21354988_21354989delTG	ENST00000215742.4	-	3	498_499	c.324_325delCA	c.(322-327)cacagtfs	p.HS108fs	THAP7_ENST00000399133.2_Frame_Shift_Del_p.HS108fs	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	108					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTGGGTAACTGTGTCCTTTGG	0.584													25	117	---	---	---	---					
GTSE1	51512	broad.mit.edu	37	22	46722446	46722447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GU-A767-01A-11D-A32B-08	TCGA-GU-A767-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee6796d7-c8eb-47d7-9207-d7f4bb717af9	d715435d-405d-4ad4-ac8b-e8630215a5ec	g.chr22:46722446_46722447insC	ENST00000454366.1	+	9	1831_1832	c.1619_1620insC	c.(1618-1623)ggccttfs	p.L541fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	522					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCTGCTCTGGCCTTCCACCGA	0.653													10	40	---	---	---	---