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
DPYSL4	10570	broad.mit.edu	37	10	134014387	134014387	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:134014387C>A	ENST00000338492.4	+	10	1174	c.1010C>A	c.(1009-1011)aCc>aAc	p.T337N	DPYSL4_ENST00000368629.1_Missense_Mutation_p.T237N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.T237N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	337					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGCACCTTCACCACTGCCCAG	0.632000													26	24					3.6726e-16	4.90464e-16	0.021523	1	0
MRVI1	10335	broad.mit.edu	37	11	10598095	10598095	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:10598095T>A	ENST00000547195.1	-	20	2750	c.2250A>T	c.(2248-2250)ttA>ttT	p.L750F	MRVI1_ENST00000541483.1_Missense_Mutation_p.L635F|MRVI1_ENST00000527509.2_Missense_Mutation_p.L750F|MRVI1_ENST00000545852.1_Missense_Mutation_p.L526F|MRVI1_ENST00000531107.1_Missense_Mutation_p.L833F|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.L814F|MRVI1_ENST00000552103.1_Missense_Mutation_p.L750F|MRVI1_ENST00000424001.1_Missense_Mutation_p.L526F|MRVI1_ENST00000421747.1_Missense_Mutation_p.L832F|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.L526F|MRVI1_ENST00000558540.1_Missense_Mutation_p.L526F|MRVI1_ENST00000423302.2_Missense_Mutation_p.L841F|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	814	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACATGACTTGTAAGAAATGGA	0.438000													62	32					0	0	0.014410	0	0
F11R	50848	broad.mit.edu	37	1	160970032	160970032	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160970032G>C	ENST00000368026.6	-	5	769	c.495C>G	c.(493-495)acC>acG	p.T165T	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Silent_p.T116T	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	165	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CTTTGAACCAGGTGTATTCAG	0.512000													43	89					0	0	0.011902	0	0
DNER	92737	broad.mit.edu	37	2	230312124	230312124	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:230312124C>A	ENST00000341772.4	-	8	1528	c.1394G>T	c.(1393-1395)tGt>tTt	p.C465F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	465	EGF-like 6.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGCTGGGCACAGGTCGGCCC	0.622000													7	18					8.12818e-05	8.6684e-05	0.001984	1	0
GRIA2	2891	broad.mit.edu	37	4	158281217	158281217	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:158281217C>A	ENST00000296526.7	+	13	2538	c.2213C>A	c.(2212-2214)cCt>cAt	p.P738H	GRIA2_ENST00000393815.2_Missense_Mutation_p.P691H|GRIA2_ENST00000507898.1_Missense_Mutation_p.P691H|GRIA2_ENST00000264426.9_Missense_Mutation_p.P738H|GRIA2_ENST00000449365.1_Missense_Mutation_p.P691H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	738					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CAAAGGAAGCCTTGCGACACC	0.483000													17	31					9.7654e-05	0.000104038	0.007413	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525947	176525947	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:176525947G>T	ENST00000367662.3	+	2	1653	c.489G>T	c.(487-489)caG>caT	p.Q163H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Q163H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	163					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCGGGATTCAGAAAGGCTCAG	0.547000													45	74					3.54909e-21	5.12701e-21	0.011902	1	0
COL11A2	1302	broad.mit.edu	37	6	33141678	33141678	+	Missense_Mutation	SNP	C	C	T	rs147927477	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:33141678C>T	ENST00000341947.2	-	34	2782	c.2555G>A	c.(2554-2556)cGa>cAa	p.R852Q	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.R766Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R771Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R831Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R792Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R745Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R805Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R826Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	852	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGTGGCACCTCGGGGTCCCCG	0.607000													95	32					0	0	0.014410	0	0
OR52E2	119678	broad.mit.edu	37	11	5080735	5080735	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5080735G>A	ENST00000321522.2	-	1	122	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTCCCTATGAGTGCGATCA	0.512000													30	9					0	0	0.009535	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238094	132238094	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:132238094C>G	ENST00000321253.6	+	4	935	c.828C>G	c.(826-828)atC>atG	p.I276M		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	276					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCCCAGTCATCTCAGCTGAGA	0.582000													118	104					0	0	0.014410	0	0
ATP9A	10079	broad.mit.edu	37	20	50310550	50310550	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:50310550G>A	ENST00000338821.5	-	7	903	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	213					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACTCACGGCGGCCGTGGGGA	0.617000													5	64					0	0	0.001984	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28963476	28963476	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:28963476C>G	ENST00000320805.4	+	2	486	c.411C>G	c.(409-411)atC>atG	p.I137M	NFATC2IP_ENST00000564978.1_5'UTR|NFATC2IP_ENST00000562977.1_3'UTR	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	137						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TTCGCCTTATCCCAGATGATC	0.532000													29	65					0	0	0.013726	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427354	25427354	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:25427354C>A	ENST00000424208.1	+	0	151					NR_003305.1																						ATGTTGAGCCCAGAGGAAGAC	0.607000													3	18					0.004672	0.00481988	0.004672	1	0
TTN	7273	broad.mit.edu	37	2	179465865	179465865	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179465865C>G	ENST00000589042.1	-	288	55990	c.55766G>C	c.(55765-55767)gGc>gCc	p.G18589A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16021A|TTN_ENST00000359218.5_Missense_Mutation_p.G9649A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9716A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9524A|TTN_ENST00000591111.1_Missense_Mutation_p.G16948A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16948	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGATGAGGCCAATCTTGAG	0.393000													41	29					0	0	0.006999	0	0
POTEH	23784	broad.mit.edu	37	22	16279209	16279209	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:16279209C>G	ENST00000343518.6	-	4	1065	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	338										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CATATCTATCCAGTGCATTTA	0.313000													25	242					0	0	0.004656	0	0
CLCN3	1182	broad.mit.edu	37	4	170618416	170618416	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:170618416C>A	ENST00000513761.1	+	9	1653	c.1094C>A	c.(1093-1095)tCc>tAc	p.S365Y	CLCN3_ENST00000504131.2_Missense_Mutation_p.S348Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.S338Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.S365Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	365					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)		GTTTTGAGGTCCATCAATCCA	0.353000													49	33					3.39706e-21	4.91419e-21	0.014410	1	0
VANGL2	57216	broad.mit.edu	37	1	160388994	160388994	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160388994T>A	ENST00000368061.2	+	4	869	c.395T>A	c.(394-396)cTg>cAg	p.L132Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	132					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCCCCCACTGCTGTGGCGG	0.672000													22	36					0	0	0.007291	0	0
MUC13	56667	broad.mit.edu	37	3	124646580	124646580	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:124646580C>A	ENST00000311075.3	-	2	348	c.310G>T	c.(310-312)Gac>Tac	p.D104Y		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	104	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GACTCACTGTCTGCAGCAGTA	0.413000													70	202					4.98926e-31	7.79012e-31	0.014410	1	0
SPTA1	6708	broad.mit.edu	37	1	158613176	158613176	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:158613176G>T	ENST00000368148.3	-	31	4558	c.4378C>A	c.(4378-4380)Ctc>Atc	p.L1460I	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1460I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1460					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)					TCAGCAATGAGGCTCTCAGCA	0.458000													8	49					1.76689e-08	2.03632e-08	0.006214	1	0
GPR143	4935	broad.mit.edu	37	X	9728837	9728837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:9728837C>A	ENST00000467482.1	-	2	426	c.280G>T	c.(280-282)Gga>Tga	p.G94*	GPR143_ENST00000380929.2_Nonsense_Mutation_p.G114*			P51810	GP143_HUMAN	G protein-coupled receptor 143	94					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TTTGGGAATCCTAACCACACG	0.463000													8	1					2.62144e-13	3.35069e-13	0.004482	1	0
SLC36A1	206358	broad.mit.edu	37	5	150844126	150844126	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:150844126G>T	ENST00000243389.3	+	4	509	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C	SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000521925.1_Missense_Mutation_p.G96C|SLC36A1_ENST00000520701.1_Missense_Mutation_p.G96C|SLC36A1_ENST00000429484.2_Missense_Mutation_p.G96C	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	96					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GCACTGCATGGGTATCCTGGT	0.517000													15	9					2.31682e-05	2.50929e-05	0.003163	1	0
NEGR1	257194	broad.mit.edu	37	1	72163763	72163763	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:72163763C>A	ENST00000357731.4	-	4	834	c.595G>T	c.(595-597)Ggg>Tgg	p.G199W	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.G71W	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	199	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCATATTCCCCAGCCTGGTCC	0.368000													26	21					9.86323e-18	1.34475e-17	0.021523	1	0
ATP8B4	79895	broad.mit.edu	37	15	50190352	50190352	+	Missense_Mutation	SNP	C	C	A	rs141037209	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:50190352C>A	ENST00000284509.6	-	22	2527	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A796S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	796					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A796S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCACTTGGGCTTTCTGGAGT	0.438000													35	48					1.90571e-15	2.52882e-15	0.019004	1	0
GLRX3	10539	broad.mit.edu	37	10	131964859	131964859	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:131964859G>T	ENST00000368644.1	+	5	589	c.567G>T	c.(565-567)caG>caT	p.Q189H	GLRX3_ENST00000331244.5_Missense_Mutation_p.Q189H	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	189	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGGTTCGACAGGGACTCAAAG	0.393000													33	46					1.74807e-11	2.15258e-11	0.010818	1	0
ACAD10	80724	broad.mit.edu	37	12	112184988	112184988	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:112184988C>G	ENST00000455480.2	+	16	2662	c.2485C>G	c.(2485-2487)Cag>Gag	p.Q829E	ACAD10_ENST00000392636.2_Missense_Mutation_p.Q400E|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.Q798E	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	798							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GACCGAGCCCCAGGTACGTCG	0.627000													23	23					0	0	0.018920	0	0
SPEF2	79925	broad.mit.edu	37	5	35712983	35712983	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:35712983G>C	ENST00000440995.2	+	20	2894	c.2894G>C	c.(2893-2895)aGa>aCa	p.R965T	SPEF2_ENST00000356031.3_Missense_Mutation_p.R970T|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	970					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCACTCAAAAGAAAAGGTACA	0.333000													5	30					0	0	0.014758	0	0
NAV3	89795	broad.mit.edu	37	12	78594282	78594282	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:78594282G>T	ENST00000397909.2	+	38	6918	c.6745G>T	c.(6745-6747)Gat>Tat	p.D2249Y	NAV3_ENST00000228327.6_Missense_Mutation_p.D2227Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D79Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2050Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2227Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2249						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGCCCCATGGATGTAGAAGG	0.363000										HNSCC(70;0.22)			22	61					2.27525e-19	3.22431e-19	0.021523	1	0
MFSD6	54842	broad.mit.edu	37	2	191301981	191301981	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:191301981C>T	ENST00000392328.1	+	3	1550	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	MFSD6_ENST00000281416.7_Missense_Mutation_p.P409L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	409					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GTGGAGATCCCGCAGGTGGAA	0.507000													13	43					0	0	0.013537	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937260	4937260	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:4937260G>A	ENST00000512825.2	-	3	1935	c.524C>T	c.(523-525)gCg>gTg	p.A175V	SLC52A1_ENST00000424747.1_Missense_Mutation_p.A175V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A175V			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	175						integral to plasma membrane	receptor activity|riboflavin transporter activity										ATTGGTGGGCGCTGGTGGGCA	0.617000													39	17					0	0	0.019004	0	0
WDR59	79726	broad.mit.edu	37	16	74921599	74921599	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:74921599T>A	ENST00000262144.6	-	23	2531	c.2401A>T	c.(2401-2403)Act>Tct	p.T801S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	801										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGCCGCCAGTGTTGAGCCCT	0.473000													33	31					0	0	0.015359	0	0
DOCK10	55619	broad.mit.edu	37	2	225702528	225702528	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:225702528G>A	ENST00000409592.3	-	25	2896	c.2783C>T	c.(2782-2784)gCc>gTc	p.A928V	DOCK10_ENST00000258390.7_Missense_Mutation_p.A934V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	934							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATGGCACTTGGCCACAATGTC	0.463000													10	34					0	0	0.006214	0	0
CNGB1	1258	broad.mit.edu	37	16	57957275	57957275	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:57957275C>T	ENST00000564448.1	-	18	1587	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	CNGB1_ENST00000251102.8_Silent_p.L515L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	515					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTCAGAGGGCAGCTTCTTCC	0.552000													16	35					0	0	0.003163	0	0
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433000													45	29					0	0	0.011902	0	0
NCAM1	4684	broad.mit.edu	37	11	113103017	113103017	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:113103017C>A	ENST00000316851.7	+	10	1336	c.1336C>A	c.(1336-1338)Cca>Aca	p.P446T	NCAM1_ENST00000401611.2_Missense_Mutation_p.P455T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.P328T	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	456	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGCTGCTGCCAAGCTCCAA	0.547000													32	38					4.23469e-30	6.58239e-30	0.015359	1	0
MYO18B	84700	broad.mit.edu	37	22	26343761	26343761	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:26343761G>T	ENST00000335473.7	+	36	5965	c.5715G>T	c.(5713-5715)gaG>gaT	p.E1905D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E1905D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E1906D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1905	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCTGAATGAGCTGATGCAGA	0.547000													27	9					2.49675e-24	3.74692e-24	0.007291	1	0
PREX2	80243	broad.mit.edu	37	8	69031742	69031742	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:69031742T>A	ENST00000288368.4	+	28	3774	c.3497T>A	c.(3496-3498)tTc>tAc	p.F1166Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1166					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATCTTTTCAGCCAGGTA	0.403000													31	84					0	0	0.010818	0	0
IRAK3	11213	broad.mit.edu	37	12	66622046	66622046	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:66622046A>G	ENST00000261233.4	+	8	1204	c.783A>G	c.(781-783)ccA>ccG	p.P261P	IRAK3_ENST00000457197.2_Silent_p.P200P	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	261	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACACGGCCCCACTCCCTTGGC	0.423000													65	102					0	0	0.014410	0	0
IFRD2	7866	broad.mit.edu	37	3	50329919	50329919	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:50329919G>C	ENST00000336089.4	-	3	338	c.339C>G	c.(337-339)ctC>ctG	p.L113L	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCACATCCACGAGGCTAAAAC	0.667000													3	19					0	0	0.009096	0	0
SNURF	8926	broad.mit.edu	37	15	25213180	25213180	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:25213180G>T	ENST00000338094.6	+	3	273	c.212G>T	c.(211-213)gGt>gTt	p.G71V	SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.G71V|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.G71V|SNRPN_ENST00000346403.6_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CCAAGAGGTGGTTAAAGCCAT	0.458000													20	28					7.45023e-12	9.29496e-12	0.010504	1	0
ASCC1	51008	broad.mit.edu	37	10	73956649	73956649	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:73956649G>C	ENST00000342444.4	-	6	594	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	ASCC1_ENST00000394919.1_Missense_Mutation_p.L137V|ASCC1_ENST00000317126.4_Missense_Mutation_p.L137V|ASCC1_ENST00000394915.3_Missense_Mutation_p.L165V|ASCC1_ENST00000545550.1_Missense_Mutation_p.L159V|ASCC1_ENST00000317168.6_Missense_Mutation_p.L137V	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						AAAAAGGCAAGGAAGTGAGTG	0.458000													19	30					0	0	0.007413	0	0
OR10J1	26476	broad.mit.edu	37	1	159410379	159410379	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:159410379C>A	ENST00000423932.3	+	1	868	c.831C>A	c.(829-831)acC>acA	p.T277T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	277					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGAGAACACCAGAGAACATG	0.512000													50	70					1.12205e-10	1.35138e-10	0.014410	1	0
SLC6A2	6530	broad.mit.edu	37	16	55731844	55731844	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:55731844A>T	ENST00000379906.2	+	9	1551	c.1296A>T	c.(1294-1296)gcA>gcT	p.A432A	SLC6A2_ENST00000219833.8_Silent_p.A432A|SLC6A2_ENST00000567238.1_Silent_p.A327A|SLC6A2_ENST00000414754.3_Silent_p.A432A|SLC6A2_ENST00000561820.1_Silent_p.A432A|SLC6A2_ENST00000568943.1_Silent_p.A432A|SLC6A2_ENST00000566163.1_Silent_p.A387A	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	432					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGGGCCTGGCAGATGACTTCC	0.577000													36	29					0	0	0.013726	0	0
HOXB9	3219	broad.mit.edu	37	17	46703128	46703128	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:46703128C>T	ENST00000311177.5	-	1	711	c.504G>A	c.(502-504)gaG>gaA	p.E168E	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	168					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GATCCGGCCTCTCTTTGTCCT	0.527000													31	32					0	0	0.012213	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227182	56227182	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:56227182G>C	ENST00000341744.3	-	4	1110	c.791C>G	c.(790-792)aCa>aGa	p.T264R	PMEPA1_ENST00000347215.4_Missense_Mutation_p.T229R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.T214R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.T214R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.T214R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	264					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGCGATGTGTGTGTGGTGGAG	0.652000													4	1					0	0	0.014758	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212471	81212471	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:81212471T>A	ENST00000394685.3	+	15	2253	c.1834T>A	c.(1834-1836)Tgc>Agc	p.C612S	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.C612S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.C612S			Q8WUJ3	K1199_HUMAN	KIAA1199	612										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTGGGCCACTGCTTCTTCAC	0.532000													36	44					0	0	0.006230	0	0
KLF6	1316	broad.mit.edu	37	10	3822386	3822386	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:3822386C>G	ENST00000497571.1	-	3	972	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	238					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAACGCCACTCACACCCTTCC	0.532000													38	25					0	0	0.021022	0	0
GALNT8	26290	broad.mit.edu	37	12	4848446	4848446	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:4848446C>T	ENST00000252318.2	+	3	964	c.627C>T	c.(625-627)ccC>ccT	p.P209P	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	209	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACCGGACGCCCTCTCGATTGT	0.428000													23	60					0	0	0.014323	0	0
MGARP	84709	broad.mit.edu	37	4	140196473	140196473	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:140196473T>A	ENST00000398955.1	-	2	335	c.156A>T	c.(154-156)gtA>gtT	p.V52V		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	52						integral to membrane											CTGTGACGCCTACAACCAGAT	0.373000													40	17					0	0	0.013114	0	0
MYH15	22989	broad.mit.edu	37	3	108127253	108127253	+	Splice_Site	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:108127253T>A	ENST00000273353.3	-	33	4612		c.e33-2			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAATCTCTTCTGGAGACAGAG	0.413000													26	13					0	0	0.004656	0	0
RFX3	5991	broad.mit.edu	37	9	3257090	3257090	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:3257090C>A	ENST00000382004.3	-	15	2026	c.1715G>T	c.(1714-1716)tGg>tTg	p.W572L	RFX3_ENST00000302303.1_Missense_Mutation_p.W572L|RFX3_ENST00000358730.2_Missense_Mutation_p.W572L	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	572					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATTGTCAAGCCACGCAGCCCA	0.498000													75	25					1.79293e-35	2.86375e-35	0.014410	1	0
GPR142	350383	broad.mit.edu	37	17	72368299	72368299	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:72368299C>A	ENST00000335666.4	+	4	997	c.949C>A	c.(949-951)Cac>Aac	p.H317N		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	317						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAAGTGGGCTCACTGTCTCAC	0.607000													31	10					4.40665e-25	6.64181e-25	0.009535	1	0
GRID1	2894	broad.mit.edu	37	10	87675959	87675959	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:87675959C>A	ENST00000327946.7	-	5	849	c.764G>T	c.(763-765)tGg>tTg	p.W255L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	255						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CACAAAGACCCAGTGGCTGTC	0.507000										Multiple Myeloma(13;0.14)			12	36					7.03913e-09	8.19398e-09	0.013537	1	0
KMT2A	4297	broad.mit.edu	37	11	118307520	118307520	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:118307520C>T	ENST00000534358.1	+	1	316	c.293C>T	c.(292-294)tCa>tTa	p.S98L	KMT2A_ENST00000389506.5_Missense_Mutation_p.S98L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S98L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCATCGTCCTCAGCCTCTTCA	0.751000													10	25					0	0	0.006214	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684857	44684857	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:44684857C>A	ENST00000454036.1	+	22	3001	c.2925C>A	c.(2923-2925)cgC>cgA	p.R975R	SLC12A5_ENST00000243964.3_Silent_p.R952R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	975					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCGGCTCCGCCTGAACGTCC	0.582000													21	13					8.10497e-08	9.25902e-08	0.010504	1	0
PTPRB	5787	broad.mit.edu	37	12	70956859	70956859	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:70956859G>A	ENST00000334414.6	-	16	3977	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I	PTPRB_ENST00000551525.1_Silent_p.I1310I|PTPRB_ENST00000538708.1_Silent_p.I1003I|PTPRB_ENST00000261266.5_Silent_p.I1093I|PTPRB_ENST00000451516.2_Silent_p.I1003I|PTPRB_ENST00000550857.1_Silent_p.I1003I|PTPRB_ENST00000550358.1_Silent_p.I1223I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1093	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTTCTCTGTGATCCTCAGGT	0.567000													11	20					0	0	0.010729	0	0
MAU2	23383	broad.mit.edu	37	19	19453608	19453608	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:19453608G>T	ENST00000392313.5	+	9	952	c.906G>T	c.(904-906)caG>caT	p.Q302H	MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.Q302H	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	302					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ACTCCATGCAGGCCGGCTACC	0.647000											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	46					1.08141e-31	1.6961e-31	0.014410	1	0
MOGS	7841	broad.mit.edu	37	2	74690480	74690480	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:74690480G>C	ENST00000233616.4	-	3	775	c.613C>G	c.(613-615)Ctg>Gtg	p.L205V	MOGS_ENST00000409065.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.L99V|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_Missense_Mutation_p.P129R	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	205					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TAGAAGAACAGGGAGACCAAA	0.498000													22	65					0	0	0.016522	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823811	83823811	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:83823811C>T	ENST00000265362.3	-	1	406	c.92G>A	c.(91-93)aGg>aAg	p.R31K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R31K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	31	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TAATTTCAGCCTTGGCACATT	0.423000													72	43					0	0	0.014410	0	0
ZNF517	340385	broad.mit.edu	37	8	146032616	146032616	+	Silent	SNP	G	G	A	rs2979084		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:146032616G>A	ENST00000359971.3	+	5	422	c.315G>A	c.(313-315)caG>caA	p.Q105Q	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.Q105Q	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CTCCTCTGCAGAGAAAGCTCT	0.617000													14	12					0	0	0.016723	0	0
C6	729	broad.mit.edu	37	5	41176625	41176625	+	Missense_Mutation	SNP	C	C	G	rs143839537		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:41176625C>G	ENST00000263413.3	-	8	1384	c.1120G>C	c.(1120-1122)Gtg>Ctg	p.V374L	C6_ENST00000337836.5_Missense_Mutation_p.V374L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	374	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.V374M(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTCATACACGCCTCCCAGG	0.433000													15	36					0	0	0.004007	0	0
EPG5	57724	broad.mit.edu	37	18	43440174	43440174	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:43440174C>A	ENST00000282041.5	-	40	6938	c.6904G>T	c.(6904-6906)Ggg>Tgg	p.G2302W	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2302					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACCACCAGCCCATGCATTTTT	0.542000													22	29					3.7963e-18	5.23058e-18	0.018920	1	0
ARL4D	379	broad.mit.edu	37	17	41477332	41477332	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:41477332G>T	ENST00000320033.4	+	2	439	c.232G>T	c.(232-234)Ggg>Tgg	p.G78W		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	78					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGGGACGTCGGGGGGCAGGA	0.632000													40	20					6.5261e-18	8.95622e-18	0.008740	1	0
TLE4	7091	broad.mit.edu	37	9	82340004	82340004	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:82340004A>G	ENST00000376520.4	+	21	3191	c.2363A>G	c.(2362-2364)tAc>tGc	p.Y788C	TLE4_ENST00000376544.3_Missense_Mutation_p.Y687C|TLE4_ENST00000376534.4_Missense_Mutation_p.Y393C|TLE4_ENST00000376537.4_Missense_Mutation_p.Y788C|TLE4_ENST00000376552.2_Missense_Mutation_p.Y756C|TLE4_ENST00000265284.6_Missense_Mutation_p.Y731C			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACGACAAATACATTGTCACT	0.388000													29	18					0	0	0.019004	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575142	74575142	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:74575142A>T	ENST00000354431.4	-	5	994	c.803T>A	c.(802-804)cTc>cAc	p.L268H	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L160H|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L268H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	268										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATCCTTAAGGAGCTTATCTTC	0.289000													11	24					0	0	0.008291	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061628	11061628	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:11061628T>A	ENST00000390677.2	-	1	533	c.270A>T	c.(268-270)atA>atT	p.I90I	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	90					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GATTAGAAACTATCCAGCTAA	0.358000													13	53					0	0	0.013537	0	0
SORCS1	114815	broad.mit.edu	37	10	108337228	108337228	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:108337228G>T	ENST00000263054.6	-	26	3464	c.3457C>A	c.(3457-3459)Ccg>Acg	p.P1153T	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1153						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGAAGGCGGAGTGGCGTGT	0.527000													43	73					1.97e-11	2.42301e-11	0.010771	1	0
IPP	3652	broad.mit.edu	37	1	46206837	46206837	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:46206837G>C	ENST00000396478.3	-	3	562	c.460C>G	c.(460-462)Ctc>Gtc	p.L154V		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	154						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AATTCCAAGAGATCATGGCAG	0.383000													19	72					0	0	0.010504	0	0
TIAM2	26230	broad.mit.edu	37	6	155503374	155503374	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:155503374G>C	ENST00000461783.3	+	15	3995	c.2722G>C	c.(2722-2724)Gcg>Ccg	p.A908P	TIAM2_ENST00000456144.1_Missense_Mutation_p.A908P|TIAM2_ENST00000360366.4_Missense_Mutation_p.A932P|TIAM2_ENST00000367174.2_Missense_Mutation_p.A284P|TIAM2_ENST00000528391.2_Missense_Mutation_p.A244P|TIAM2_ENST00000318981.5_Missense_Mutation_p.A908P|TIAM2_ENST00000456877.2_Missense_Mutation_p.A220P|TIAM2_ENST00000529824.2_Missense_Mutation_p.A908P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	908	PDZ.				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)		TGCAGTTACAGCGCAGGTGGA	0.522000													26	105					0	0	0.007291	0	0
RGS9	8787	broad.mit.edu	37	17	63221182	63221182	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:63221182G>A	ENST00000449996.3	+	18	1533	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	RGS9_ENST00000443584.3_Silent_p.P487P|RGS9_ENST00000262406.9_Silent_p.P490P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	490					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCATGCCCCCGTCTCCTTCTA	0.647000													35	82					0	0	0.017118	0	0
KANK2	25959	broad.mit.edu	37	19	11289130	11289130	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:11289130G>A	ENST00000432929.2	-	6	1795	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	KANK2_ENST00000586659.1_Intron|KANK2_ENST00000355150.5_Intron|KANK2_ENST00000589359.1_Missense_Mutation_p.P479S|KANK2_ENST00000589894.1_Intron	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	472								p.?(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGCCTGGAGGGGAGGACAGC	0.677000													14	5					0	0	0.003163	0	0
SETD2	29072	broad.mit.edu	37	3	47087991	47087991	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:47087991G>C	ENST00000409792.3	-	16	7126	c.7084C>G	c.(7084-7086)Cag>Gag	p.Q2362E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2362	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCAAGGGCTGAGGCTGCCCT	0.458000			"""N, F, S, Mis"""		clear cell renal carcinoma								24	14					0	0	0.014323	0	0
XIRP2	129446	broad.mit.edu	37	2	168096378	168096378	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:168096378G>T	ENST00000409195.1	+	6	961	c.872G>T	c.(871-873)aGc>aTc	p.S291I	XIRP2_ENST00000409605.1_Missense_Mutation_p.S69I|XIRP2_ENST00000409728.1_Missense_Mutation_p.S324I|XIRP2_ENST00000409043.1_Missense_Mutation_p.S291I|XIRP2_ENST00000409273.1_Missense_Mutation_p.S69I|XIRP2_ENST00000420519.1_Missense_Mutation_p.S324I|XIRP2_ENST00000295237.9_Missense_Mutation_p.S291I|XIRP2_ENST00000409756.2_Missense_Mutation_p.S291I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	116					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						GCAATTCATAGCAGCCAGGTT	0.373000													9	61					0.00448238	0.00463342	0.004482	1	0
P2RX1	5023	broad.mit.edu	37	17	3802963	3802963	+	Nonsense_Mutation	SNP	G	G	T	rs144076351		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:3802963G>T	ENST00000225538.3	-	8	1114	c.840C>A	c.(838-840)taC>taA	p.Y280*		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	280					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TTTTCTCTTCGTACAGCCCAT	0.567000													30	10					6.38683e-12	8.00657e-12	0.008361	1	0
C14orf39	317761	broad.mit.edu	37	14	60903708	60903708	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:60903708T>C	ENST00000321731.3	-	18	1778	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	540										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGTTGAAGTGTCTGATGGAAA	0.328000													43	114					0	0	0.014410	0	0
SPEG	10290	broad.mit.edu	37	2	220336995	220336995	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:220336995G>T	ENST00000312358.7	+	15	4014	c.3882G>T	c.(3880-3882)gtG>gtT	p.V1294V	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1294	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGTGGCTGTGACGGGGAGGA	0.652000													40	29					5.20006e-24	7.77029e-24	0.011902	1	0
IPP	3652	broad.mit.edu	37	1	46206597	46206597	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:46206597G>C	ENST00000396478.3	-	3	802	c.700C>G	c.(700-702)Cag>Gag	p.Q234E		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	234						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAAGTCTCTGAGGAGGTAAT	0.353000													11	46					0	0	0.020292	0	0
UNC5D	137970	broad.mit.edu	37	8	35544096	35544096	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:35544096C>T	ENST00000287272.2	+	6	805	c.785C>T	c.(784-786)tCc>tTc	p.S262F	UNC5D_ENST00000453357.2_Missense_Mutation_p.S313F|UNC5D_ENST00000416672.1_Missense_Mutation_p.S318F|UNC5D_ENST00000404895.2_Missense_Mutation_p.S318F|UNC5D_ENST00000420357.1_Missense_Mutation_p.S262F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	318	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCGAATGGTCCGTCTGCAGT	0.517000													20	47					0	0	0.014323	0	0
CACNG5	27091	broad.mit.edu	37	17	64880696	64880696	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:64880696G>T	ENST00000533854.1	+	5	725	c.488G>T	c.(487-489)aGg>aTg	p.R163M	CACNG5_ENST00000307139.3_Missense_Mutation_p.R163M|CACNG5_ENST00000169565.3_Missense_Mutation_p.R163M			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	163					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGCTCAACAGGACCAAGGAT	0.562000													40	13					2.5098e-30	3.90705e-30	0.021022	1	0
SPIDR	23514	broad.mit.edu	37	8	48309095	48309095	+	Nonsense_Mutation	SNP	A	A	T	rs75731959		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:48309095A>T	ENST00000297423.4	+	6	1069	c.685A>T	c.(685-687)Aaa>Taa	p.K229*	SPIDR_ENST00000541342.1_Nonsense_Mutation_p.K159*|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.K169*|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TCCAAGGACAAAATCAACAGA	0.403000													36	76					0	0	0.017118	0	0
KRT31	3881	broad.mit.edu	37	17	39551740	39551740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:39551740C>A	ENST00000251645.2	-	4	776	c.724G>T	c.(724-726)Gaa>Taa	p.E242*		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	242	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCTCCACTTCCCTGCGGTTG	0.617000													39	33					9.9998e-32	1.57312e-31	0.011902	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110497338	110497338	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:110497338C>T	ENST00000378402.5	+	58	9746	c.9642C>T	c.(9640-9642)atC>atT	p.I3214I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3214					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGAAGTATCGTTAAAATCC	0.328000										HNSCC(38;0.096)			9	39					0	0	0.010729	0	0
PIK3R1	5295	broad.mit.edu	37	5	67575537	67575537	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:67575537A>T	ENST00000521381.1	+	5	1226	c.610A>T	c.(610-612)Agt>Tgt	p.S204C	PIK3R1_ENST00000274335.5_Missense_Mutation_p.S204C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S204C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S204C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	204	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGCCGTTTACAGTGAAATGAT	0.428000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			37	29					0	0	0.007835	0	0
TNRC18	84629	broad.mit.edu	37	7	5410646	5410646	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:5410646T>A	ENST00000399537.4	-	11	3927	c.3579A>T	c.(3577-3579)gcA>gcT	p.A1193A	TNRC18_ENST00000430969.1_Silent_p.A1193A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1193			A -> G (in dbSNP:rs12671708).				DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CACAACCCCCTGCAGGGCTGG	0.697000													30	41					0	0	0.010818	0	0
MAT2B	27430	broad.mit.edu	37	5	162940624	162940624	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:162940624G>T	ENST00000518095.1	+	3	395	c.322G>T	c.(322-324)Gct>Tct	p.A108S	MAT2B_ENST00000280969.5_Missense_Mutation_p.A97S|MAT2B_ENST00000321757.6_Missense_Mutation_p.A108S|MAT2B_ENST00000518731.1_Intron			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	108					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGCCAGATGCTGCCTCTCA	0.358000													31	26					6.84511e-11	8.30169e-11	0.015359	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862916	10862916	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:10862916G>A	ENST00000559480.1	+	0	212																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGATTGGTGTGCCCTAGTGAT	0.537000													42	164					0	0	0.008740	0	0
FAM162B	221303	broad.mit.edu	37	6	117086410	117086410	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:117086410G>T	ENST00000368557.4	-	2	327	c.181C>A	c.(181-183)Cac>Aac	p.H61N		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	61						integral to membrane				large_intestine(2)|lung(4)	6						GGGACTCGGTGAATCTCCCCT	0.642000													31	22					8.88839e-20	1.26994e-19	0.010818	1	0
WDR66	144406	broad.mit.edu	37	12	122413568	122413568	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:122413568G>A	ENST00000288912.4	+	19	3837	c.2983G>A	c.(2983-2985)Ggc>Agc	p.G995S		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	995							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GAGAGCAATTGGCTTTTACCC	0.443000													16	55					0	0	0.004990	0	0
FEZF2	55079	broad.mit.edu	37	3	62357920	62357920	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:62357920G>C	ENST00000283268.3	-	2	918	c.624C>G	c.(622-624)ccC>ccG	p.P208P	FEZF2_ENST00000486811.1_Silent_p.P208P|FEZF2_ENST00000475839.1_Silent_p.P208P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	208					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GAAAGAGCTTGGGGTGAGCAG	0.697000													5	2					0	0	0.014758	0	0
SRCAP	10847	broad.mit.edu	37	16	30747542	30747542	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:30747542G>A	ENST00000262518.4	+	32	7136	c.6751G>A	c.(6751-6753)Gaa>Aaa	p.E2251K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2189K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2093K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2251	Glu-rich.				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)			GGCAGAAGATGAAGAGGATAT	0.468000													18	46					0	0	0.010504	0	0
PCDH9	5101	broad.mit.edu	37	13	67205539	67205539	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:67205539T>C	ENST00000544246.1	-	4	3834	c.3143A>G	c.(3142-3144)cAg>cGg	p.Q1048R	PCDH9_ENST00000377865.2_Missense_Mutation_p.Q1048R|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q1014R|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q1014R	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1048					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACACGGCGCTGCGACTACAA	0.483000													26	24					0	0	0.021523	0	0
RAB40C	57799	broad.mit.edu	37	16	640428	640428	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:640428G>T	ENST00000535977.1	+	2	359	c.137G>T	c.(136-138)aGt>aTt	p.S46I	RAB40C_ENST00000248139.3_Missense_Mutation_p.S46I|RAB40C_ENST00000539661.1_Missense_Mutation_p.S46I|RAB40C_ENST00000538492.1_Missense_Mutation_p.S46I	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	46					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TACGCCTACAGTAACGGTAAg	0.731000													5	9					0.014758	0.015076	0.014758	1	0
PACRG	135138	broad.mit.edu	37	6	163149307	163149307	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:163149307C>G	ENST00000337019.3	+	2	264	c.40C>G	c.(40-42)Cca>Gca	p.P14A	PACRG_ENST00000366889.2_Missense_Mutation_p.P14A|PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.P14A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	14										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAACAAATGCCCAGACAAGAT	0.483000													50	117					0	0	0.014410	0	0
SGOL1	151648	broad.mit.edu	37	3	20212684	20212684	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:20212684C>A	ENST00000412997.1	-	7	1674	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L	SGOL1_ENST00000452020.1_Silent_p.L172L|SGOL1_ENST00000419233.2_Silent_p.L189L|SGOL1_ENST00000417364.1_Silent_p.L189L|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Silent_p.L441L|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412868.1_Silent_p.L441L|SGOL1_ENST00000437051.1_Silent_p.L189L|SGOL1_ENST00000421451.1_Silent_p.L441L|SGOL1_ENST00000425061.1_Silent_p.L189L|SGOL1_ENST00000442720.1_Silent_p.L172L|SGOL1_ENST00000306698.2_Silent_p.L172L|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000429446.3_Silent_p.L172L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	441					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGATATCCTTCAGGCTAAGAT	0.368000													29	19					4.3181e-19	6.08619e-19	0.013726	1	0
HOXD8	3234	broad.mit.edu	37	2	176995548	176995548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:176995548C>T	ENST00000313173.4	+	1	1081	c.454C>T	c.(454-456)Caa>Taa	p.Q152*	HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Nonsense_Mutation_p.Q48*|HOXD8_ENST00000544999.1_Nonsense_Mutation_p.Q152*|HOXD8_ENST00000450510.2_Nonsense_Mutation_p.Q152*|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	152					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACGACCCAGCAAGAGGCCGA	0.537000													26	153					0	0	0.004656	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102991711	102991711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:102991711G>T	ENST00000375735.2	+	9	1450	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E436*|DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E436*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	436	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATAAGCAAAGAATTGATGTT	0.313000													15	15					5.03518e-11	6.128e-11	0.007413	1	0
PTPN4	5775	broad.mit.edu	37	2	120723117	120723117	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:120723117G>T	ENST00000263708.2	+	25	3225	c.2454G>T	c.(2452-2454)tgG>tgT	p.W818C	PTPN4_ENST00000544261.1_Missense_Mutation_p.W451C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	818	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACATAGCCTGGCCTGACCATG	0.408000													45	60					1.89013e-27	2.89912e-27	0.014410	1	0
FAM19A5	25817	broad.mit.edu	37	22	49042485	49042485	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:49042485G>T	ENST00000358295.5	+	2	343	c.168G>T	c.(166-168)cgG>cgT	p.R56R	FAM19A5_ENST00000402357.1_Silent_p.R63R|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	63						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGATCGCCCGGCAGACCGCCC	0.687000													19	7					2.54575e-18	3.53087e-18	0.010504	1	0
SNORD113-5	767565	broad.mit.edu	37	14	101404543	101404543	+	RNA	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:101404543G>T	ENST00000607261.1	+	0	20					NR_003233.1																						GATGAGTATTGGTGGAGGTGT	0.358000													39	118					2.19962e-31	3.44476e-31	0.008740	1	0
CNTN2	6900	broad.mit.edu	37	1	205028300	205028300	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:205028300G>A	ENST00000331830.4	+	6	860	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	192	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGGGAACCTGTACATTGCCC	0.572000													12	34					0	0	0.010729	0	0
GRN	2896	broad.mit.edu	37	17	42427687	42427687	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:42427687G>T	ENST00000053867.3	+	5	503	c.441G>T	c.(439-441)tgG>tgT	p.W147C	GRN_ENST00000589265.1_Missense_Mutation_p.W147C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	147					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGCTCCTGGGGGTGCTGCC	0.617000													89	36					3.28864e-39	5.32617e-39	0.014410	1	0
PKD1L1	168507	broad.mit.edu	37	7	47930312	47930312	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:47930312C>G	ENST00000289672.2	-	16	2553	c.2503G>C	c.(2503-2505)Gac>Cac	p.D835H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	835	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGGAGGAGTCGAAGCAGGGA	0.577000													16	40					0	0	0.004990	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129014	248129014	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248129014C>A	ENST00000366480.3	+	1	480	c.381C>A	c.(379-381)gcC>gcA	p.A127A	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAACTGAAGCCCTTCTCCTTG	0.443000													58	213					3.79397e-19	5.35468e-19	0.014410	1	0
OR2T12	127064	broad.mit.edu	37	1	248458804	248458804	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248458804A>C	ENST00000317996.1	-	1	76	c.77T>G	c.(76-78)tTc>tGc	p.F26C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGCATCATGAAGAGGACTTG	0.498000													60	48					0	0	0.014410	0	0
CHRM1	1128	broad.mit.edu	37	11	62678102	62678102	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:62678102C>A	ENST00000306960.3	-	2	1012	c.471G>T	c.(469-471)tgG>tgT	p.W157C	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	157					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TGGCTGGGGCCCAGAGCACAA	0.627000													18	37					0.00498961	0.00513738	0.004990	1	0
C1orf51	148523	broad.mit.edu	37	1	150259146	150259146	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:150259146C>A	ENST00000290363.5	+	5	1387	c.938C>A	c.(937-939)cCa>cAa	p.P313Q	C1orf51_ENST00000369094.1_Missense_Mutation_p.P225Q|C1orf51_ENST00000369095.1_Missense_Mutation_p.P313Q	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	313										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCAGTCCCACCTACTACA	0.547000													84	97					3.77845e-26	5.73642e-26	0.014410	1	0
SLAMF9	89886	broad.mit.edu	37	1	159923122	159923122	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:159923122T>G	ENST00000368093.3	-	2	484	c.368A>C	c.(367-369)cAg>cCg	p.Q123P	SLAMF9_ENST00000368092.3_Missense_Mutation_p.Q123P|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	123						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGTACTGCTGCATGGTAGA	0.502000													31	72					0	0	0.010818	0	0
KRI1	65095	broad.mit.edu	37	19	10670525	10670525	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:10670525C>T	ENST00000312962.6	-	10	925	c.906G>A	c.(904-906)caG>caA	p.Q302Q	KRI1_ENST00000361821.5_Silent_p.Q298Q	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	302	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AATTGTACTTCTGTTCAAAGT	0.602000													24	31					0	0	0.018920	0	0
NID1	4811	broad.mit.edu	37	1	236205510	236205510	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:236205510C>T	ENST00000264187.6	-	4	917	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	NID1_ENST00000366595.3_Missense_Mutation_p.V279M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	279					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)	CCGAGGATCACGTCTGCAGGC	0.577000													77	220					0	0	0.014410	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376074	376074	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:376074G>T	ENST00000329962.6	+	12	1096	c.1095_splice	c.e12-1	p.V366_splice		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	366						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCCCCCAGGTGTACCTGTC	0.672000													11	7					2.80697e-09	3.28952e-09	0.010729	1	0
RIMS1	22999	broad.mit.edu	37	6	73110196	73110196	+	Splice_Site	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:73110196A>G	ENST00000264839.7	+	30	4407		c.e30-1		RIMS1_ENST00000431478.2_Splice_Site|RIMS1_ENST00000414192.2_Splice_Site|RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000521978.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTATCTCTGCAGGTGATTGTC	0.478000													10	40					0	0	0.006214	0	0
DGKH	160851	broad.mit.edu	37	13	42734234	42734234	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:42734234C>T	ENST00000379274.2	+	7	838	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	DGKH_ENST00000538674.1_Intron|DGKH_ENST00000337343.4_Missense_Mutation_p.R273C|DGKH_ENST00000261491.4_Missense_Mutation_p.R273C|DGKH_ENST00000536612.1_Missense_Mutation_p.R137C|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R273C			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	273	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGTGTTCTCCGTCTACAGGA	0.478000													51	84					0	0	0.014410	0	0
WSCD2	9671	broad.mit.edu	37	12	108603897	108603897	+	Splice_Site	SNP	G	G	T	rs34325107		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:108603897G>T	ENST00000332082.4	+	5	1315		c.e5-1		WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCCTCCCCCAGGGGTTACCTG	0.652000													13	35					2.31682e-05	2.50929e-05	0.003163	1	0
LIAS	11019	broad.mit.edu	37	4	39478734	39478734	+	Nonstop_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:39478734A>T	ENST00000261434.3	+	11	1236	c.1118A>T	c.(1117-1119)tAa>tTa	p.*373L	LIAS_ENST00000381846.1_Nonstop_Mutation_p.*330L|LIAS_ENST00000340169.2_3'UTR|LIAS_ENST00000513731.1_Nonstop_Mutation_p.*243L	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	0					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	AAAGACCTCTAAAACTTCAAC	0.328000													10	18					0	0	0.008291	0	0
RGL3	57139	broad.mit.edu	37	19	11507958	11507958	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:11507958C>A	ENST00000380456.3	-	18	2039	c.1976G>T	c.(1975-1977)tGt>tTt	p.C659F	RGL3_ENST00000393423.3_Missense_Mutation_p.C665F|RGL3_ENST00000568628.1_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	659	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTGATAGTCACAGGCCCAGGG	0.642000													43	36					1.21353e-23	1.80301e-23	0.014410	1	0
FADS6	283985	broad.mit.edu	37	17	72875708	72875708	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:72875708G>A	ENST00000310226.6	-	5	746	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	250					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGGCAGTCCGATGTGCTGTG	0.642000													5	22					0	0	0.014758	0	0
GGN	199720	broad.mit.edu	37	19	38877102	38877102	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:38877102G>A	ENST00000334928.6	-	3	932	c.800C>T	c.(799-801)tCg>tTg	p.S267L	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	267	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.S267L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCCCCAGCGAAGCTTTGGC	0.647000													5	79					0	0	0.014758	0	0
NFIC	4782	broad.mit.edu	37	19	3449039	3449039	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:3449039A>T	ENST00000589123.1	+	7	1079	c.959A>T	c.(958-960)gAg>gTg	p.E320V	NFIC_ENST00000590282.1_Missense_Mutation_p.E329V|NFIC_ENST00000443272.2_Missense_Mutation_p.E329V|NFIC_ENST00000586919.1_Missense_Mutation_p.E296V|NFIC_ENST00000395111.3_Missense_Mutation_p.E320V|NFIC_ENST00000346156.5_Missense_Mutation_p.E296V|NFIC_ENST00000341919.3_Missense_Mutation_p.E329V	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	329					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AAGAAGACAGAGATGGACAAG	0.637000													27	16					0	0	0.005443	0	0
FAM9C	171484	broad.mit.edu	37	X	13061250	13061250	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:13061250G>C	ENST00000542843.1	-	3	389	c.179C>G	c.(178-180)aCg>aGg	p.T60R	FAM9C_ENST00000380625.3_Missense_Mutation_p.T60R|FAM9C_ENST00000333995.3_Missense_Mutation_p.T60R			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	60						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ACTTTACCCCGTGTGTTCATC	0.413000													72	51					0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155200325	155200325	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:155200325G>C	ENST00000460012.1	-	23	3757	c.3400C>G	c.(3400-3402)Ctg>Gtg	p.L1134V	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1134V|PLCH1_ENST00000340059.7_Missense_Mutation_p.L1172V|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1134V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1172					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCTCCTGCAGAATTGCAGTT	0.458000													18	68					0	0	0.007413	0	0
USP45	85015	broad.mit.edu	37	6	99958050	99958050	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:99958050C>A	ENST00000327681.6	-	2	579	c.47G>T	c.(46-48)aGa>aTa	p.R16I	USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.R16I|USP45_ENST00000369231.3_Missense_Mutation_p.R16I|USP45_ENST00000329966.5_Missense_Mutation_p.R16I|USP45_ENST00000369233.2_Missense_Mutation_p.R16I|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.R16I	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	16					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTTTTACTTCTTTTGGCTTT	0.358000													23	100					1.2476e-16	1.67686e-16	0.006320	1	0
GLCE	26035	broad.mit.edu	37	15	69548323	69548323	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:69548323G>C	ENST00000261858.2	+	3	406	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	60					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AGCAGCATCTGAGAGTAACAA	0.478000													26	90					0	0	0.018920	0	0
IGSF8	93185	broad.mit.edu	37	1	160063857	160063857	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160063857C>A	ENST00000368086.1	-	3	763	c.547G>T	c.(547-549)Gca>Tca	p.A183S	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.A183S			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	183	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCCCAGTGCCAGCTCCTGC	0.667000													28	49					3.65163e-15	4.81498e-15	0.006320	1	0
COL2A1	1280	broad.mit.edu	37	12	48378332	48378332	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:48378332C>G	ENST00000380518.3	-	28	2048	c.1884G>C	c.(1882-1884)ctG>ctC	p.L628L	COL2A1_ENST00000337299.6_Silent_p.L559L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	628	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACTTACCCTCAGACCAGGAG	0.637000													18	30					0	0	0.007413	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838505	155838505	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:155838505C>A	ENST00000490337.1	+	1	169	c.105C>A	c.(103-105)ccC>ccA	p.P35P	KCNAB1_ENST00000389636.5_Silent_p.P35P	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	35						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)			ACAAATCTCCCAAGAAAGCCT	0.557000													49	71					5.7616e-29	8.91595e-29	0.014410	1	0
IQSEC3	440073	broad.mit.edu	37	12	274923	274923	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:274923C>A	ENST00000538872.1	+	11	2956	c.2838C>A	c.(2836-2838)acC>acA	p.T946T	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.T643T|IQSEC3_ENST00000326261.4_Silent_p.T946T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	946	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CACTGGTGACCCCGCTCTCGG	0.612000													8	57					0.000673444	0.000707354	0.008291	1	0
ZC3H3	23144	broad.mit.edu	37	8	144620328	144620328	+	Missense_Mutation	SNP	A	A	C	rs140254248	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:144620328A>C	ENST00000262577.5	-	2	1240	c.1209T>G	c.(1207-1209)caT>caG	p.H403Q		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	403					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGGGAGGCATGGTCCTTGC	0.647000													4	47					0	0	0.009096	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627360	140627360	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.602000													47	96					0	0	0.014410	0	0
HYAL3	8372	broad.mit.edu	37	3	50332763	50332763	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:50332763G>A	ENST00000336307.1	-	2	543	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.H91Y|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.H91Y	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	91					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCCCATTGTGAGCTGTGCCC	0.587000													22	49					0	0	0.016522	0	0
SP140	11262	broad.mit.edu	37	2	231174703	231174703	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:231174703G>A	ENST00000392045.3	+	23	2237	c.2123G>A	c.(2122-2124)tGt>tAt	p.C708Y	SP140_ENST00000417495.3_Missense_Mutation_p.C594Y|SP140_ENST00000420434.3_Missense_Mutation_p.C681Y|SP140_ENST00000343805.6_Missense_Mutation_p.C648Y|SP140_ENST00000350136.5_Missense_Mutation_p.C577Y|SP140_ENST00000486687.2_Missense_Mutation_p.C632Y	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	708					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCGACACTTGTTCAAGAGTC	0.512000													25	72					0	0	0.006320	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442667	22442667	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:22442667C>G	ENST00000265810.4	+	4	568	c.453C>G	c.(451-453)atC>atG	p.I151M	PDLIM2_ENST00000397761.2_Missense_Mutation_p.I151M|PDLIM2_ENST00000397760.4_Missense_Mutation_p.I151M|PDLIM2_ENST00000409417.1_Missense_Mutation_p.I151M|PDLIM2_ENST00000339162.7_Missense_Mutation_p.I151M|PDLIM2_ENST00000308354.7_Missense_Mutation_p.I401M|PDLIM2_ENST00000409141.1_Missense_Mutation_p.I151M|PDLIM2_ENST00000448520.1_3'UTR	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	151	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	p.I401I(1)|p.I151I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGCAGCCATCAGCCGCAGGT	0.662000													17	13					0	0	0.006122	0	0
TDRD3	81550	broad.mit.edu	37	13	61109367	61109367	+	Splice_Site	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:61109367G>C	ENST00000196169.3	+	12	2627	c.1839_splice	c.e12+1	p.W613_splice	TDRD3_ENST00000377894.2_Splice_Site_p.W613_splice|TDRD3_ENST00000377881.2_Splice_Site_p.W613_splice|TDRD3_ENST00000535286.1_Splice_Site_p.W706_splice	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	613	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAGAGGCATGGGTACGTGATA	0.358000													15	74					0	0	0.004007	0	0
FAT2	2196	broad.mit.edu	37	5	150911376	150911376	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:150911376G>T	ENST00000261800.5	-	13	9595	c.9583C>A	c.(9583-9585)Cca>Aca	p.P3195T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3195	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCGGTATTGGGGTGCCCAGG	0.662000													44	27					8.00217e-19	1.1203e-18	0.014410	1	0
PROSC	11212	broad.mit.edu	37	8	37620234	37620234	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:37620234G>T	ENST00000328195.3	+	1	124	c.57G>T	c.(55-57)gcG>gcT	p.A19A		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	19							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CATTGCGGGCGGTGAACGAGC	0.746000													3	5					0.014758	0.015076	0.014758	1	0
ISPD	729920	broad.mit.edu	37	7	16317786	16317786	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:16317786G>C	ENST00000407010.2	-	6	900	c.901C>G	c.(901-903)Ctt>Gtt	p.L301V	ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Missense_Mutation_p.L251V	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	301					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCTTCAAGAAGATGACCTACA	0.274000										Multiple Myeloma(15;0.18)			5	16					0	0	0.001984	0	0
AMZ1	155185	broad.mit.edu	37	7	2752151	2752151	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:2752151C>T	ENST00000312371.4	+	7	1504	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	379							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ACCTTCGCCTCGGGGCCAGAG	0.692000													6	17					0	0	0.001168	0	0
UFC1	51506	broad.mit.edu	37	1	161123883	161123883	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:161123883G>A	ENST00000368003.5	+	1	342	c.96G>A	c.(94-96)ctG>ctA	p.L32L	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	32					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCAGCGACTGAAGGAGGAAT	0.527000													58	90					0	0	0.014410	0	0
TRPV3	162514	broad.mit.edu	37	17	3446796	3446796	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:3446796G>A	ENST00000301365.4	-	5	569	c.438C>T	c.(436-438)tgC>tgT	p.C146C	TRPV3_ENST00000572519.1_Silent_p.C146C|TRPV3_ENST00000576742.1_Silent_p.C146C			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	146						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCGCCGCCTGCAAAGCTCCT	0.617000													29	60					0	0	0.007291	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879225	12879225	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:12879225G>T	ENST00000524591.2	+	5	1526	c.1037G>T	c.(1036-1038)gGg>gTg	p.G346V	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	346							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGAAATGGAGGGGGAAATTTT	0.418000													14	11					1.5842e-08	1.83387e-08	0.016723	1	0
KEAP1	9817	broad.mit.edu	37	19	10610419	10610419	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:10610419C>A	ENST00000171111.5	-	2	838	c.291G>T	c.(289-291)aaG>aaT	p.K97N	KEAP1_ENST00000393623.2_Missense_Mutation_p.K97N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	97	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCAGCACCACCTTGTGGGCCA	0.612000													40	11					2.87052e-16	3.84333e-16	0.005524	1	0
ZNF890P	645700	broad.mit.edu	37	7	5167301	5167301	+	RNA	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:5167301C>G	ENST00000422060.2	-	0	550					NR_034163.1																						GTACAGGGTCCTCTGCTCCAG	0.562000													7	21					0	0	0.003080	0	0
PJA1	64219	broad.mit.edu	37	X	68382735	68382735	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:68382735C>A	ENST00000361478.1	-	2	724	c.347G>T	c.(346-348)gGa>gTa	p.G116V	PJA1_ENST00000374571.4_Missense_Mutation_p.G61V|PJA1_ENST00000374583.1_Missense_Mutation_p.G116V|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	116							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTCAATATGTCCATAGGCCAT	0.498000													34	22					2.20474e-14	2.88887e-14	0.017118	1	0
LRFN5	145581	broad.mit.edu	37	14	42360680	42360680	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:42360680T>C	ENST00000298119.4	+	4	2802	c.1613T>C	c.(1612-1614)gTa>gCa	p.V538A	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	538						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGAATCATTGTAGCATCTGTG	0.403000										HNSCC(30;0.082)			4	109					0	0	0.014758	0	0
SLIT3	6586	broad.mit.edu	37	5	168310292	168310292	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:168310292C>A	ENST00000519560.1	-	5	882	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C	SLIT3_ENST00000404867.3_Missense_Mutation_p.G155C|SLIT3_ENST00000332966.8_Missense_Mutation_p.G155C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTGATGCCGCGGAACGCC	0.502000													27	22					2.4375e-19	3.44954e-19	0.007291	1	0
TTN	7273	broad.mit.edu	37	2	179478506	179478506	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179478506T>C	ENST00000589042.1	-	263	49728	c.49504A>G	c.(49504-49506)Aag>Gag	p.K16502E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13934E|TTN_ENST00000359218.5_Missense_Mutation_p.K7562E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7629E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7437E|TTN_ENST00000591111.1_Missense_Mutation_p.K14861E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14861	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCATCTTATTGCATCTA	0.418000													71	111					0	0	0.014410	0	0
COPB2	9276	broad.mit.edu	37	3	139092570	139092570	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:139092570C>A	ENST00000333188.5	-	8	1013	c.832G>T	c.(832-834)Gcc>Tcc	p.A278S	COPB2_ENST00000507777.1_Missense_Mutation_p.A249S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	278					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTTAGACTGGCCACGCACCAT	0.438000													12	79					1.08611e-07	1.23669e-07	0.010729	1	0
MORF4L1	10933	broad.mit.edu	37	15	79186409	79186409	+	Silent	SNP	G	G	T	rs146848001	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:79186409G>T	ENST00000331268.5	+	11	960	c.756G>T	c.(754-756)gcG>gcT	p.A252A	MORF4L1_ENST00000559345.1_Silent_p.A125A|MORF4L1_ENST00000558502.1_Silent_p.A125A|MORF4L1_ENST00000558746.1_Silent_p.A186A|MORF4L1_ENST00000426013.2_Silent_p.A213A|MORF4L1_ENST00000379535.4_Silent_p.A238A|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GGGAGTATGCGGTTAATGAAG	0.333000													72	106					1.25742e-37	2.02391e-37	0.014410	1	0
TBCEL	219899	broad.mit.edu	37	11	120957514	120957514	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:120957514G>T	ENST00000422003.2	+	8	1172	c.984G>T	c.(982-984)ggG>ggT	p.G328G	TBCEL_ENST00000529397.1_Silent_p.G328G	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	328						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CTAAATATGGGAAGTTGGAGC	0.433000													18	27					3.51602e-12	4.43972e-12	0.008871	1	0
PRRC2A	7916	broad.mit.edu	37	6	31603433	31603433	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:31603433G>A	ENST00000376033.2	+	24	5682	c.5448G>A	c.(5446-5448)ctG>ctA	p.L1816L	PRRC2A_ENST00000376007.4_Silent_p.L1816L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1816						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAAGAACCTGGATTCTGGGC	0.602000													5	45					0	0	0.001168	0	0
ANLN	54443	broad.mit.edu	37	7	36460353	36460353	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:36460353G>T	ENST00000265748.2	+	12	2384	c.2163_splice	c.e12+1	p.Q721_splice	ANLN_ENST00000396068.2_Splice_Site_p.Q684_splice	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	721					cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGAAAATGCAGGTATGTACTT	0.408000													44	68					1.03325e-14	1.35898e-14	0.011902	1	0
OR8I2	120586	broad.mit.edu	37	11	55861052	55861052	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:55861052G>A	ENST00000302124.2	+	1	300	c.269G>A	c.(268-270)aGa>aAa	p.R90K	OR8I2_ENST00000560768.1_Missense_Mutation_p.R90K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCAATCGGAGATCCATCTCC	0.398000													81	132					0	0	0.014410	0	0
TNC	3371	broad.mit.edu	37	9	117819515	117819515	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:117819515G>C	ENST00000350763.4	-	15	4907	c.4496C>G	c.(4495-4497)cCc>cGc	p.P1499R	TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.P1135R|TNC_ENST00000535648.1_Missense_Mutation_p.P1135R|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.P1135R|TNC_ENST00000341037.4_Missense_Mutation_p.P1408R|TNC_ENST00000423613.2_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1499	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTACTAGGGGGTAGCCCTGA	0.468000													37	43					0	0	0.019004	0	0
UBR3	130507	broad.mit.edu	37	2	170843259	170843259	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:170843259G>C	ENST00000272793.5	+	25	3789	c.3739G>C	c.(3739-3741)Gaa>Caa	p.E1247Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E1247Q|UBR3_ENST00000392631.1_Missense_Mutation_p.E68Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1247					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CCCCTCCTCTGAAGATCGACC	0.418000													52	41					0	0	0.014410	0	0
ANGPT4	51378	broad.mit.edu	37	20	860413	860413	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:860413G>A	ENST00000381922.3	-	6	1132	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R344W	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	344	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TTCCAGTTCCGCTGAAAATTC	0.612000													30	15					0	0	0.007291	0	0
MLLT6	4302	broad.mit.edu	37	17	36861943	36861943	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:36861943A>T	ENST00000325718.7	+	1	149	c.58A>T	c.(58-60)Aac>Tac	p.N20Y	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.N20Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	20					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTGGGCCGAGAACCCGCTGGT	0.736000			T	MLL	AL								11	37					0	0	0.013537	0	0
MYOCD	93649	broad.mit.edu	37	17	12626276	12626276	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:12626276G>C	ENST00000425538.1	+	5	566	c.366G>C	c.(364-366)gtG>gtC	p.V122V	MYOCD_ENST00000395988.1_Silent_p.V26V|MYOCD_ENST00000343344.4_Silent_p.V122V	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	122					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGAGCTGGTGGAAAAAAACA	0.468000													29	69					0	0	0.008361	0	0
ABCA12	26154	broad.mit.edu	37	2	215882824	215882824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:215882824C>A	ENST00000272895.7	-	14	1909	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E246*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	564					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)		TCTTTCAGCTCTTCAACATTT	0.388000													9	20					1.12685e-05	1.23456e-05	0.004482	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774104	140774104	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140774104T>G	ENST00000398604.2	+	1	1724	c.1724T>G	c.(1723-1725)gTg>gGg	p.V575G	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTGGCGTGGAGCTGGCG	0.657000													43	47					0	0	0.014410	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111858	3111858	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:3111858C>G	ENST00000263650.7	-	20	2487	c.2328G>C	c.(2326-2328)gaG>gaC	p.E776D	OSBPL5_ENST00000478260.1_Missense_Mutation_p.E230D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E407D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E708D|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E708D|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E687D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	776					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATCCGCTGCTCTCCGTGGCCT	0.662000													11	17					0	0	0.013537	0	0
COPG1	22820	broad.mit.edu	37	3	128971504	128971504	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:128971504C>T	ENST00000314797.6	+	4	314	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	70					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCGAGGCCTTCTTTGCCATGA	0.537000													52	40					0	0	0.014410	0	0
PDE6C	5146	broad.mit.edu	37	10	95405728	95405728	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:95405728C>A	ENST00000371447.3	+	15	1997	c.1859C>A	c.(1858-1860)cCa>cAa	p.P620Q		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	620					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCCACGTCTCCATTAGCAAGA	0.393000													23	33					9.04412e-07	1.01213e-06	0.004656	1	0
FAAH2	158584	broad.mit.edu	37	X	57337068	57337068	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:57337068G>A	ENST00000374900.4	+	3	438	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	106						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TAGATCAAAAGCTTGCAGAGA	0.418000										HNSCC(52;0.14)			25	5					0	0	0.021523	0	0
C10orf12	26148	broad.mit.edu	37	10	98741671	98741671	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:98741671A>C	ENST00000286067.2	+	1	631	c.524A>C	c.(523-525)gAg>gCg	p.E175A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	175										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCCACTTTGAGAATCAAAAA	0.388000													42	75					0	0	0.006999	0	0
GRIK3	2899	broad.mit.edu	37	1	37356671	37356671	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:37356671G>A	ENST00000373091.3	-	2	158	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	GRIK3_ENST00000373093.4_Missense_Mutation_p.P48S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	48					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGGCGTTGGGGCCGTCCGCA	0.517000													75	153					0	0	0.014410	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	29					0	0	0.004672	0	0
NISCH	11188	broad.mit.edu	37	3	52514220	52514220	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:52514220C>T	ENST00000345716.4	+	13	1571	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	NISCH_ENST00000420808.2_Silent_p.L479L|NISCH_ENST00000479054.1_Silent_p.L479L|NISCH_ENST00000488380.1_Silent_p.L479L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	479	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACTCCCGGCTCTCAGCTGCCC	0.642000													20	62					0	0	0.012319	0	0
GNRHR	2798	broad.mit.edu	37	4	68610423	68610423	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:68610423A>G	ENST00000226413.4	-	2	629	c.605T>C	c.(604-606)tTt>tCt	p.F202S	RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Intron|RP11-453E17.1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	202					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCATTGTGAAAAACTGCAGTG	0.378000													28	103					0	0	0.009535	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711057	195711057	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:195711057C>A	ENST00000427841.1	-	0	675					NR_003264.2																						GCCTGCCCGCCCTTTCCAAAC	0.547000													27	65					4.87955e-14	6.33007e-14	0.005443	1	0
HGSNAT	138050	broad.mit.edu	37	8	43052821	43052821	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:43052821A>C	ENST00000458501.2	+	16	1633	c.1633A>C	c.(1633-1635)Att>Ctt	p.I545L	HGSNAT_ENST00000379644.4_Missense_Mutation_p.I517L|HGSNAT_ENST00000521576.1_Missense_Mutation_p.I234L|HGSNAT_ENST00000297798.7_Missense_Mutation_p.I249L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	545					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACAGGGGCTCATTTCTGTTGC	0.333000													18	79					0	0	0.006122	0	0
VANGL2	57216	broad.mit.edu	37	1	160385889	160385889	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160385889G>T	ENST00000368061.2	+	3	583	c.109G>T	c.(109-111)Ggg>Tgg	p.G37W		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	37					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCGAGATGGGGGCCGAGG	0.642000													37	45					2.38352e-08	2.74394e-08	0.019004	1	0
FST	10468	broad.mit.edu	37	5	52778750	52778750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:52778750C>A	ENST00000396947.3	+	2	292	c.126C>A	c.(124-126)tgC>tgA	p.C42*	FST_ENST00000256759.3_Nonsense_Mutation_p.C42*	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	42	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACGGCCGCTGCCAGGTCCTGT	0.627000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	7					1.1804e-14	1.55057e-14	0.021523	1	0
PPM1K	152926	broad.mit.edu	37	4	89183819	89183819	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:89183819C>A	ENST00000295908.6	-	7	1436	c.1047G>T	c.(1045-1047)tgG>tgT	p.W349C		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	349					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TATATTTTCCCCAGGCACCAA	0.448000													20	35					1.50039e-11	1.85196e-11	0.012319	1	0
SETD2	29072	broad.mit.edu	37	3	47162747	47162747	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:47162747G>C	ENST00000409792.3	-	3	3421	c.3379C>G	c.(3379-3381)Caa>Gaa	p.Q1127E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTATCAGTTTGAGGACAGGCT	0.363000			"""N, F, S, Mis"""		clear cell renal carcinoma								52	25					0	0	0.014410	0	0
PELI2	57161	broad.mit.edu	37	14	56763458	56763458	+	Silent	SNP	C	C	T	rs148290454	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:56763458C>T	ENST00000267460.4	+	6	1123	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	279					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGATTAACGCCGCCCGGCCTC	0.572000													13	17					0	0	0.020292	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630103	155630103	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:155630103C>A	ENST00000368340.5	-	10	2060	c.1952G>T	c.(1951-1953)aGa>aTa	p.R651I	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R502I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R671I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R502I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R379I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R533I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R533I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R522I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R513I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R522I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R533I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.R579I	NM_001198904.1	NP_001185833.1			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)					GGCTCCCCTTCTTTTTGAGGG	0.522000													46	92					4.75955e-12	5.98097e-12	0.014410	1	0
BNC1	646	broad.mit.edu	37	15	83926398	83926398	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:83926398G>T	ENST00000345382.2	-	5	2866	c.2781C>A	c.(2779-2781)ccC>ccA	p.P927P	BNC1_ENST00000569704.1_Silent_p.P920P|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	927					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						GACAGGTTATGGGCAACCCAG	0.532000													104	139					7.80449e-65	1.29619e-64	0.014410	1	0
DTNB	1838	broad.mit.edu	37	2	25610209	25610209	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:25610209C>G	ENST00000406818.3	-	18	2023	c.1774G>C	c.(1774-1776)Gct>Cct	p.A592P	DTNB_ENST00000545439.1_Missense_Mutation_p.A381P|DTNB_ENST00000496972.2_Missense_Mutation_p.A528P|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.A592P|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407186.1_Missense_Mutation_p.A555P	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	592						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAGTCAGCTGCCACCAGC	0.607000													25	35					0	0	0.006320	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821249	66821249	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:66821249G>A	ENST00000307897.5	+	11	1409	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	ZWILCH_ENST00000535141.2_Silent_p.R229R|ZWILCH_ENST00000446801.2_Silent_p.R229R|ZWILCH_ENST00000565627.1_Silent_p.R229R	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	343					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCAAAGTTCGGAGTGATCTTG	0.378000													7	62					0	0	0.003080	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74664010	74664010	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:74664010C>A	ENST00000370895.1	+	1	83	c.48C>A	c.(46-48)acC>acA	p.T16T	FPGT_ENST00000534056.1_Silent_p.T16T|FPGT-TNNI3K_ENST00000557284.1_Silent_p.T16T|FPGT-TNNI3K_ENST00000370899.3_Silent_p.T16T|FPGT_ENST00000524915.1_Silent_p.T16T|TNNI3K_ENST00000370893.1_Silent_p.T16T|FPGT_ENST00000467578.2_Silent_p.T16T|FPGT_ENST00000370898.2_Silent_p.T16T|FPGT_ENST00000482102.2_Silent_p.T16T|TNNI3K_ENST00000370891.2_Silent_p.T16T|FPGT_ENST00000370894.4_Silent_p.T16T			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GAGAAGCCACCCAGCGAAAAT	0.622000													7	31					0.00307968	0.00319931	0.003080	1	0
HOXA4	3201	broad.mit.edu	37	7	27168988	27168988	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:27168988G>T	ENST00000360046.5	-	2	884	c.819C>A	c.(817-819)gaC>gaA	p.D273E	HOXA4_ENST00000428284.2_Missense_Mutation_p.D273E|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GCAGTTTGTGGTCTTTCTTCC	0.597000													44	86					1.00001e-27	1.53609e-27	0.009718	1	0
EML5	161436	broad.mit.edu	37	14	89163230	89163230	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:89163230C>A	ENST00000554922.1	-	15	2553	c.2305G>T	c.(2305-2307)Ggc>Tgc	p.G769C	EML5_ENST00000352093.5_Missense_Mutation_p.G769C|EML5_ENST00000380664.5_Missense_Mutation_p.G769C	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	769						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGTGGTGGCCCTTTAATATG	0.368000													15	19					1.15088e-07	1.30901e-07	0.004007	1	0
FAT3	120114	broad.mit.edu	37	11	92543064	92543064	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:92543064G>A	ENST00000298047.6	+	12	9320	c.9303G>A	c.(9301-9303)ctG>ctA	p.L3101L	FAT3_ENST00000525166.1_Silent_p.L2951L|FAT3_ENST00000409404.2_Silent_p.L3101L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3101	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTACAGCCTGATGGCCAAGG	0.507000										TCGA Ovarian(4;0.039)			36	39					0	0	0.006999	0	0
FGD4	121512	broad.mit.edu	37	12	32735366	32735366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:32735366G>T	ENST00000427716.2	+	4	989	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	FGD4_ENST00000534526.2_Nonsense_Mutation_p.E326*|FGD4_ENST00000472289.1_Nonsense_Mutation_p.E189*|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Nonsense_Mutation_p.E96*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.E274*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.E301*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	189					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGCCCTCTGGAACTGGAGCA	0.512000													19	26					1.01871e-10	1.23119e-10	0.008871	1	0
IL20	50604	broad.mit.edu	37	1	207041895	207041895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:207041895G>T	ENST00000367098.1	+	6	880	c.517G>T	c.(517-519)Gag>Tag	p.E173*	IL20_ENST00000391930.2_Nonsense_Mutation_p.E148*|IL20_ENST00000367096.3_Nonsense_Mutation_p.E173*			Q9NYY1	IL20_HUMAN	interleukin 20	173					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GCAATGGATGGAGGAGACAGA	0.488000													11	16					0.00010058	0.000106937	0.013537	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906085	164906085	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:164906085C>T	ENST00000475390.1	-	2	2977	c.2534G>A	c.(2533-2535)gGg>gAg	p.G845E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G845E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	845						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCTGAAACCCCACCAACTGC	0.572000										HNSCC(40;0.11)			68	98					0	0	0.014410	0	0
OR52I2	143502	broad.mit.edu	37	11	4608444	4608444	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:4608444C>A	ENST00000312614.4	+	1	424	c.402C>A	c.(400-402)gtC>gtA	p.V134V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTTTGTCCACTTAGCCA	0.502000													38	31					1.56738e-10	1.88555e-10	0.019004	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86541497	86541497	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:86541497T>C	ENST00000450689.2	-	15	2245	c.2060A>G	c.(2059-2061)tAt>tGt	p.Y687C	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y520C|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y447C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	687						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCTAAAGTCATAGTGCAAACT	0.368000													10	65					0	0	0.003163	0	0
XKR7	343702	broad.mit.edu	37	20	30584330	30584330	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:30584330C>G	ENST00000217299.3	+	3	984	c.810C>G	c.(808-810)ctC>ctG	p.L270L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	270						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCCTCCCTCGTGTCTCTGG	0.711000													9	20					0	0	0.004482	0	0
CDYL	9425	broad.mit.edu	37	6	4892436	4892436	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:4892436G>T	ENST00000328908.5	+	4	807	c.676G>T	c.(676-678)Ggt>Tgt	p.G226C	CDYL_ENST00000343762.5_Missense_Mutation_p.G40C|CDYL_ENST00000449732.2_Missense_Mutation_p.G40C|CDYL_ENST00000397588.3_Missense_Mutation_p.G172C|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	226					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGTCGAGCAGGGTCAGGAGGA	0.627000													37	8					2.19358e-23	3.25449e-23	0.005524	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202538290	202538290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:202538290G>T	ENST00000406302.3	+	23	2980	c.2827G>T	c.(2827-2829)Gag>Tag	p.E943*	PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.E943*|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Nonsense_Mutation_p.E169*|PPP1R12B_ENST00000367270.4_Nonsense_Mutation_p.E169*	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	943					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCGAGCCTTGGAGCGCAAAAT	0.428000													12	65					1.3612e-06	1.52169e-06	0.003163	1	0
OR5J2	282775	broad.mit.edu	37	11	55944522	55944522	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:55944522G>A	ENST00000312298.1	+	1	429	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	143					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)					AGTGTGTGGAGCTTGTCACAG	0.458000													47	56					0	0	0.013114	0	0
RPP30	10556	broad.mit.edu	37	10	92660420	92660420	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:92660420C>T	ENST00000413330.1	+	11	826	c.791C>T	c.(790-792)gCc>gTc	p.A264V	RPP30_ENST00000371703.3_Missense_Mutation_p.A264V|RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	264					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCCAAGAAAGCCAAGTGTGAG	0.413000													65	99					0	0	0.014410	0	0
COTL1	23406	broad.mit.edu	37	16	84623841	84623841	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:84623841C>G	ENST00000262428.4	-	3	350	c.188G>C	c.(187-189)cGc>cCc	p.R63P	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	63	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGTGGTGAAGCGCACGAAGGC	0.582000													15	62					0	0	0.004007	0	0
SACS	26278	broad.mit.edu	37	13	23907941	23907941	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:23907941G>A	ENST00000382298.3	-	10	10662	c.10074C>T	c.(10072-10074)ccC>ccT	p.P3358P	SACS_ENST00000402364.1_Silent_p.P2608P|SACS_ENST00000382292.3_Silent_p.P3358P	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3358					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGATGCTTGTGGGGCTCTCTA	0.368000													17	67					0	0	0.004990	0	0
ATP1A4	480	broad.mit.edu	37	1	160129245	160129245	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160129245C>A	ENST00000368081.4	+	6	1178	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	236					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGAGCCGCTCCCCTGACTTC	0.512000													51	67					3.16986e-14	4.12755e-14	0.014410	1	0
CADPS	8618	broad.mit.edu	37	3	62631519	62631519	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:62631519C>A	ENST00000383710.4	-	6	1553		c.e6-1		CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000490353.2_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAATTACCACCTGAAAAGAGA	0.453000													40	20					1.04594e-18	1.45649e-18	0.006230	1	0
WDR46	9277	broad.mit.edu	37	6	33255144	33255144	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:33255144G>C	ENST00000374617.4	-	8	1223	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	289										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CTGTAGCCAGGAGGAAGTGGA	0.572000													42	21					0	0	0.009718	0	0
CR2	1380	broad.mit.edu	37	1	207651356	207651356	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:207651356C>A	ENST00000367057.3	+	16	3218	c.3029C>A	c.(3028-3030)cCc>cAc	p.P1010H	CR2_ENST00000458541.2_Missense_Mutation_p.P924H|CR2_ENST00000367059.3_Missense_Mutation_p.P889H|CR2_ENST00000367058.3_Missense_Mutation_p.P951H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	951					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAGGCAGTCCCCAGAGCCAG	0.522000													13	26					0.00010058	0.000106937	0.013537	1	0
PLCE1	51196	broad.mit.edu	37	10	95931022	95931022	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:95931022G>T	ENST00000260766.3	+	4	2212	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	PLCE1_ENST00000371385.3_Missense_Mutation_p.Q218H|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q526H|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q218H	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	526					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCGATCTGCAGCCTCTCATCC	0.532000													81	86					1.68136e-41	2.74868e-41	0.014410	1	0
MXRA5	25878	broad.mit.edu	37	X	3228906	3228906	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:3228906G>T	ENST00000217939.6	-	7	7492	c.7338C>A	c.(7336-7338)ccC>ccA	p.P2446P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2446	Ig-like C2-type 9.					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)				TGATGGGGTTGGGGTTACCGT	0.587000													18	15					3.32936e-07	3.74598e-07	0.006122	1	0
ZNF347	84671	broad.mit.edu	37	19	53652546	53652546	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:53652546C>A	ENST00000452676.2	-	3	516	c.90G>T	c.(88-90)agG>agT	p.R30S	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R30S|ZNF347_ENST00000334197.7_Missense_Mutation_p.R30S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTACAAAGTCCTCTGAGCGG	0.502000													41	169					4.32679e-17	5.83809e-17	0.006999	1	0
BRAP	8315	broad.mit.edu	37	12	112121073	112121073	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:112121073G>C	ENST00000419234.4	-	2	314	c.121C>G	c.(121-123)Cta>Gta	p.L41V	BRAP_ENST00000327551.6_Missense_Mutation_p.L11V	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	41					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGAGGCTAGTGTCGTCTTT	0.428000													68	81					0	0	0.014410	0	0
OR5M11	219487	broad.mit.edu	37	11	56309949	56309949	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:56309949G>A	ENST00000528616.2	-	1	808	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTATCTGTTGGTGGTCTTAT	0.418000													36	58					0	0	0.019004	0	0
GRM5	2915	broad.mit.edu	37	11	88323860	88323860	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:88323860G>T	ENST00000418177.2	-	7	1966	c.1599C>A	c.(1597-1599)acC>acA	p.T533T	GRM5_ENST00000455756.2_Silent_p.T533T|GRM5_ENST00000393297.1_Silent_p.T533T|GRM5_ENST00000305447.4_Silent_p.T533T|GRM5_ENST00000305432.5_Silent_p.T533T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	533					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGGTGTACAGGTCCAACAAC	0.388000													40	51					1.06522e-23	1.58491e-23	0.013114	1	0
SRGAP2	23380	broad.mit.edu	37	1	206566147	206566147	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:206566147A>G	ENST00000414007.1	+	2	168	c.168A>G	c.(166-168)gtA>gtG	p.V56V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	196	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTAAATCGGTAAAGCAGGAGG	0.517000													8	36					0	0	0.006214	0	0
HBB	3043	broad.mit.edu	37	11	5246903	5246903	+	Silent	SNP	G	G	A	rs33973589		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5246903G>A	ENST00000335295.3	-	3	544	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	123					blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CTGGTGGGGTGAATTCTTTGC	0.522000									Sickle Cell Trait				48	23					0	0	0.014410	0	0
NUDT12	83594	broad.mit.edu	37	5	102891788	102891788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:102891788G>A	ENST00000230792.2	-	4	904	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Nonsense_Mutation_p.Q252*	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	270						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GATCTTGCTTGAGCTACAACC	0.323000													9	17					0	0	0.008291	0	0
OR52N5	390075	broad.mit.edu	37	11	5799748	5799748	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5799748G>A	ENST00000317093.2	-	1	149	c.117C>T	c.(115-117)ctC>ctT	p.L39L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACATTGTGCAGAGTGGGAGGG	0.403000													29	71					0	0	0.009535	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399393	89399393	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:89399393C>A	ENST00000479981.1	-	0	336																											GTTGCAAAATCTTCAGGCTGC	0.498000													72	113					1.13027e-35	1.80808e-35	0.014410	1	0
TECTA	7007	broad.mit.edu	37	11	121023652	121023652	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:121023652G>T	ENST00000392793.1	+	13	4439	c.4168G>T	c.(4168-4170)Gcc>Tcc	p.A1390S	TECTA_ENST00000264037.2_Missense_Mutation_p.A1390S			O75443	TECTA_HUMAN	tectorin alpha	1390	TIL 3.				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)		GCCCCGCTGCGCCGCCATCCG	0.612000													28	48					2.68265e-12	3.39152e-12	0.013726	1	0
DCPS	28960	broad.mit.edu	37	11	126201304	126201304	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:126201304A>G	ENST00000263579.4	+	3	710	c.381A>G	c.(379-381)gtA>gtG	p.V127V	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	127					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TTGCAGATGTAAAGACGACCG	0.557000													47	183					0	0	0.014410	0	0
BMP7	655	broad.mit.edu	37	20	55758871	55758871	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:55758871G>C	ENST00000395863.3	-	4	1370	c.865C>G	c.(865-867)Cgc>Ggc	p.R289G	BMP7_ENST00000450594.2_Missense_Mutation_p.R289G|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	289					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGGATGCTGCGGAAGTGGACC	0.632000													35	17					0	0	0.017118	0	0
TCL6	27004	broad.mit.edu	37	14	96136811	96136811	+	RNA	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:96136811A>T	ENST00000467865.1	+	0	1921				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AGACACATTCACACTGGGCCA	0.448000			T	TRA@	T-ALL								13	47					0	0	0.020292	0	0
DNAH9	1770	broad.mit.edu	37	17	11757569	11757569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:11757569G>T	ENST00000262442.3	+	50	9825	c.9757G>T	c.(9757-9759)Gag>Tag	p.E3253*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3253*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3253	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3253Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCAATCCTGAGTTTGTGGC	0.493000													66	28					2.17656e-39	3.53056e-39	0.014410	1	0
KCNJ10	3766	broad.mit.edu	37	1	160011696	160011696	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:160011696A>T	ENST00000368089.3	-	2	853	c.627T>A	c.(625-627)atT>atA	p.I209I	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	209						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGCAGCCAATGAGGAGGC	0.532000													50	44					0	0	0.014410	0	0
EPAS1	2034	broad.mit.edu	37	2	46607448	46607448	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:46607448G>T	ENST00000263734.3	+	12	2147	c.1637G>T	c.(1636-1638)tGc>tTc	p.C546F		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	546					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGCCCCATCTGCCCCGAGGAG	0.607000													27	75					2.65835e-16	3.56382e-16	0.007291	1	0
AGO3	192669	broad.mit.edu	37	1	36506023	36506023	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:36506023G>T	ENST00000373191.4	+	16	2502	c.2153G>T	c.(2152-2154)tGt>tTt	p.C718F	AGO3_ENST00000246314.6_Missense_Mutation_p.C484F	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CGATTATTTTGTGCTGATAGG	0.403000													46	73					6.17242e-35	9.82875e-35	0.014410	1	0
OBSCN	84033	broad.mit.edu	37	1	228412281	228412281	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:228412281G>A	ENST00000570156.2	+	10	3125	c.3051G>A	c.(3049-3051)aaG>aaA	p.K1017K	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.K925K|OBSCN_ENST00000422127.1_Silent_p.K925K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1017	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGTACAAGGATGGGAAGA	0.662000													15	45					0	0	0.004007	0	0
MYO9A	4649	broad.mit.edu	37	15	72190535	72190535	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:72190535T>C	ENST00000356056.5	-	25	4781	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A	MYO9A_ENST00000444904.1_Missense_Mutation_p.T1418A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1437A|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1437A|MYO9A_ENST00000566885.1_Missense_Mutation_p.T1057A|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1437	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGATACTTGTGTCTAGTTGG	0.398000													17	92					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152419190	152419190	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:152419190A>C	ENST00000397345.3	-	120	19028	c.18826T>G	c.(18826-18828)Tgg>Ggg	p.W6276G	NEB_ENST00000409198.1_Missense_Mutation_p.W4575G|NEB_ENST00000604864.1_Missense_Mutation_p.W6276G|NEB_ENST00000427231.2_Missense_Mutation_p.W6276G|NEB_ENST00000172853.10_Missense_Mutation_p.W4575G|NEB_ENST00000603639.1_Missense_Mutation_p.W6276G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6285					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAGACGTCCACTGGTGGAAA	0.478000													17	10					0	0	0.004007	0	0
OLFM3	118427	broad.mit.edu	37	1	102269862	102269862	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:102269862T>C	ENST00000370103.4	-	6	1522	c.1309A>G	c.(1309-1311)Aac>Gac	p.N437D	OLFM3_ENST00000338858.5_Missense_Mutation_p.N457D|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	457	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGCCATTGTTCCAGGCATAG	0.413000													38	48					0	0	0.005524	0	0
ROBO2	6092	broad.mit.edu	37	3	77666678	77666678	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:77666678G>T	ENST00000461745.1	+	22	4208	c.3308G>T	c.(3307-3309)aGc>aTc	p.S1103I	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1119I|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1103I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1103					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACAGTGATAGCTGGTGCCCA	0.408000													34	16					1.30015e-28	2.00304e-28	0.021022	1	0
ACSS2	55902	broad.mit.edu	37	20	33509651	33509651	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:33509651T>A	ENST00000360596.2	+	13	1741	c.1530T>A	c.(1528-1530)ggT>ggA	p.G510G	ACSS2_ENST00000336325.4_Silent_p.G460G|ACSS2_ENST00000253382.5_Silent_p.G523G|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	510					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGTTGGAAGGTGAAGCTGAAG	0.488000													171	230					0	0	0.014410	0	0
IQUB	154865	broad.mit.edu	37	7	123097558	123097558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:123097558G>T	ENST00000466202.1	-	12	2646	c.2070C>A	c.(2068-2070)tgC>tgA	p.C690*	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Nonsense_Mutation_p.C690*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	690										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGATTGTCGCAAGCACTGA	0.458000													60	24					2.32817e-41	3.80013e-41	0.014410	1	0
TRPM5	29850	broad.mit.edu	37	11	2434787	2434787	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:2434787A>G	ENST00000452833.1	-	13	1936	c.1928T>C	c.(1927-1929)aTg>aCg	p.M643T	TRPM5_ENST00000533060.1_Missense_Mutation_p.M641T|TRPM5_ENST00000155858.6_Missense_Mutation_p.M641T|TRPM5_ENST00000528453.1_Missense_Mutation_p.M641T			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	641						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCTGCGGCCATGTCCCCCCA	0.637000													9	8					0	0	0.006214	0	0
MAP3K4	4216	broad.mit.edu	37	6	161502033	161502033	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:161502033A>G	ENST00000392142.4	+	6	2366	c.2218A>G	c.(2218-2220)Ata>Gta	p.I740V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I740V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I740V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I740V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	740					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACTCATTACATACGGGGAGG	0.438000													12	13					0	0	0.016723	0	0
NES	10763	broad.mit.edu	37	1	156642186	156642186	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:156642186C>T	ENST00000368223.3	-	4	1926	c.1794G>A	c.(1792-1794)aaG>aaA	p.K598K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	598	Tail.			ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCACATCCTTTAATAGCT	0.403000													38	64					0	0	0.019004	0	0
PPIG	9360	broad.mit.edu	37	2	170493567	170493567	+	Missense_Mutation	SNP	G	G	A	rs114420548	by1000genomes	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:170493567G>A	ENST00000260970.3	+	14	2019	c.1799G>A	c.(1798-1800)aGa>aAa	p.R600K	PPIG_ENST00000448752.2_Missense_Mutation_p.R600K|PPIG_ENST00000409714.3_Missense_Mutation_p.R585K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	600	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAATACAGGAGAAGAGGACGG	0.493000													21	16					0	0	0.008871	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166127	42166127	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:42166127C>A	ENST00000320955.6	-	25	5033	c.4806G>T	c.(4804-4806)caG>caT	p.Q1602H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1602					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.Q1602H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTCCAGCTCCTGGCACTGCT	0.637000													10	45					2.17888e-05	2.36973e-05	0.006214	1	0
GRM7	2917	broad.mit.edu	37	3	7494450	7494450	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:7494450G>C	ENST00000486284.1	+	6	1605	c.1331G>C	c.(1330-1332)gGa>gCa	p.G444A	GRM7_ENST00000389336.4_Missense_Mutation_p.G444A|GRM7_ENST00000402647.2_Missense_Mutation_p.G444A|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.G444A|GRM7_ENST00000403881.1_Missense_Mutation_p.G444A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	444					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGCAAGCTGGAGGCAAGAAG	0.463000													21	4					0	0	0.014323	0	0
INPP5D	3635	broad.mit.edu	37	2	234072549	234072549	+	Splice_Site	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:234072549A>C	ENST00000359570.5	+	14	1401	c.1401_splice	c.e14+1	p.T467_splice	INPP5D_ENST00000538935.1_Splice_Site_p.T466_splice|INPP5D_ENST00000450745.1_Splice_Site_p.T231_splice|INPP5D_ENST00000455936.2_Splice_Site_p.T231_splice			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	479					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTTTTAAAACAGTGAGCAGCT	0.557000													17	19					0	0	0.004007	0	0
NMUR2	56923	broad.mit.edu	37	5	151772002	151772002	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:151772002C>A	ENST00000255262.3	-	4	1163	c.998G>T	c.(997-999)cGc>cTc	p.R333L		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	333					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGCCTGGAAGCGGCGAGACAG	0.502000													59	19					1.22119e-34	1.93866e-34	0.014410	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618170	77618170	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:77618170C>A	ENST00000521891.2	+	2	2295	c.1847C>A	c.(1846-1848)cCa>cAa	p.P616Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P616Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P616Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P616Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	616						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)			ATCGAGTGTCCAAAGTGCGAC	0.547000										HNSCC(33;0.089)			34	9					1.03484e-13	1.33581e-13	0.005524	1	0
C10orf71	118461	broad.mit.edu	37	10	50532601	50532601	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:50532601G>T	ENST00000374144.3	+	3	2299	c.2011G>T	c.(2011-2013)Ggg>Tgg	p.G671W	C10orf71_ENST00000323868.4_Missense_Mutation_p.G671W			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	671										endometrium(1)	1						GCTAGAGAATGGGCTCTCCAG	0.542000													19	31					1.78486e-19	2.53972e-19	0.007413	1	0
CLEC16A	23274	broad.mit.edu	37	16	11133682	11133682	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:11133682C>T	ENST00000409790.1	+	14	1839	c.1609C>T	c.(1609-1611)Cac>Tac	p.H537Y	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.H519Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	537								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCTACAACCACCCGCTAGC	0.547000													3	8					0	0	0.004672	0	0
NRROS	375387	broad.mit.edu	37	3	196387121	196387121	+	Missense_Mutation	SNP	G	G	T	rs111822102	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:196387121G>T	ENST00000328557.4	+	3	810	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CGCTTTCGACGGCCTGGCTGA	0.632000													25	29					7.92952e-12	9.86932e-12	0.021523	1	0
F8	2157	broad.mit.edu	37	X	154194882	154194882	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:154194882C>G	ENST00000360256.4	-	8	1290	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	364					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATCATAGTCTTCCGCTTCT	0.418000													47	61					0	0	0.014410	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448183	136448183	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:136448183A>C	ENST00000394945.1	-	5	584	c.415T>G	c.(415-417)Tgt>Ggt	p.C139G	SPOCK1_ENST00000282223.7_Missense_Mutation_p.C139G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	139	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGGACAGGGCTTGCAC	0.458000													30	17					0	0	0.006320	0	0
MYH11	4629	broad.mit.edu	37	16	15811107	15811107	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:15811107C>G	ENST00000338282.6	-	38	5500	c.5394G>C	c.(5392-5394)cgG>cgC	p.R1798R	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.R1805R|MYH11_ENST00000396324.3_Silent_p.R1805R|MYH11_ENST00000300036.5_Silent_p.R1798R|MYH11_ENST00000576790.1_Silent_p.R1798R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1798					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAGCTTGCTCCGGAGCTCCT	0.642000			T	CBFB	AML								36	54					0	0	0.019004	0	0
ITPR3	3710	broad.mit.edu	37	6	33653453	33653453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:33653453C>G	ENST00000374316.5	+	42	6576	c.5516C>G	c.(5515-5517)tCa>tGa	p.S1839*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.S1839*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1839					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						CCTGGCTCCTCATCCCGCTAC	0.672000													17	53					0	0	0.007413	0	0
GTPBP10	85865	broad.mit.edu	37	7	90012371	90012371	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:90012371G>A	ENST00000222511.6	+	9	945	c.879G>A	c.(877-879)atG>atA	p.M293I	GTPBP10_ENST00000257659.8_Missense_Mutation_p.M214I	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	293					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ATGAATTGATGAGCCAGCTCC	0.343000													17	31					0	0	0.008871	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812477	140812477	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140812477G>T	ENST00000252085.3	+	1	2293	c.2151G>T	c.(2149-2151)cgG>cgT	p.R717R	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_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)			TCAGGCTGCGGCGCTGGCACA	0.657000													4	88					0.00909568	0.00931905	0.009096	1	0
SLITRK5	26050	broad.mit.edu	37	13	88329343	88329343	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:88329343G>C	ENST00000325089.6	+	2	1919	c.1700G>C	c.(1699-1701)tGt>tCt	p.C567S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.C326S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	567	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCTTGGGATTGTACCTGTGAC	0.517000													81	106					0	0	0.014410	0	0
VEGFC	7424	broad.mit.edu	37	4	177605168	177605168	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:177605168C>A	ENST00000280193.2	-	7	1587	c.1172G>T	c.(1171-1173)cGc>cTc	p.R391L	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	391					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGCCTTCTGGCGGTTCGTACA	0.418000													30	26					2.61193e-14	3.40531e-14	0.009535	1	0
POMK	84197	broad.mit.edu	37	8	42977826	42977826	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:42977826G>C	ENST00000331373.5	+	5	1114	c.859G>C	c.(859-861)Gac>Cac	p.D287H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		287	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GAAGATCCCAGACATCTCCAG	0.488000													23	65					0	0	0.016522	0	0
MYT1L	23040	broad.mit.edu	37	2	1893245	1893245	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:1893245G>T	ENST00000399161.2	-	16	3035	c.2288C>A	c.(2287-2289)cCt>cAt	p.P763H	MYT1L_ENST00000428368.2_Missense_Mutation_p.P761H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	763					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCATGTCAGGGTTCTGTCG	0.592000													8	33					0.000442599	0.000466294	0.006214	1	0
MYO1A	4640	broad.mit.edu	37	12	57422608	57422608	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:57422608T>A	ENST00000442789.2	-	29	3350	c.3063A>T	c.(3061-3063)gcA>gcT	p.A1021A	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.A859A|MYO1A_ENST00000300119.3_Silent_p.A1021A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1021					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTCACCACCTGCAGGGCCCT	0.547000													38	55					0	0	0.005524	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356276	16356276	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:16356276C>A	ENST00000375692.1	+	14	1406	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	CLCNKA_ENST00000331433.4_Missense_Mutation_p.F426L|CLCNKA_ENST00000420078.1_Missense_Mutation_p.F426L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F383L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	426					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCGGGTACTTCATGCCCATCT	0.602000													91	94					3.78979e-47	6.24447e-47	0.014410	1	0
LSS	4047	broad.mit.edu	37	21	47633658	47633658	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:47633658T>C	ENST00000397728.3	-	10	1181	c.1103A>G	c.(1102-1104)tAt>tGt	p.Y368C	LSS_ENST00000457828.2_Missense_Mutation_p.Y288C|LSS_ENST00000356396.4_Missense_Mutation_p.Y368C|LSS_ENST00000522411.1_Missense_Mutation_p.Y357C	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	368					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCACCAGAGATAGTCCGGGAT	0.612000													5	15					0	0	0.014758	0	0
CABS1	85438	broad.mit.edu	37	4	71201058	71201058	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:71201058G>C	ENST00000273936.4	+	1	361	c.302G>C	c.(301-303)gGc>gCc	p.G101A		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	101						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTCTGACTGGCACTACAAAC	0.363000													34	35					0	0	0.021022	0	0
FAM186B	84070	broad.mit.edu	37	12	49994812	49994812	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:49994812G>C	ENST00000544141.1	-	4	940	c.341C>G	c.(340-342)aCc>aGc	p.T114S	FAM186B_ENST00000551047.1_Missense_Mutation_p.T204S|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Missense_Mutation_p.T204S			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	204						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGTGTTCATGGTATGCTGGTC	0.587000													29	51					0	0	0.009535	0	0
PCDH7	5099	broad.mit.edu	37	4	30724316	30724316	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:30724316C>A	ENST00000361762.2	+	1	2280	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	PCDH7_ENST00000543491.1_Silent_p.P424P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	424	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCGCATCCCCCTCAAGGACG	0.627000													4	34					0.00909568	0.00931905	0.009096	1	0
MMP21	118856	broad.mit.edu	37	10	127462433	127462433	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:127462433C>A	ENST00000368808.3	-	2	663	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	222					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCGACCGCGGCCCCGGGGGCG	0.726000													27	30					4.59853e-10	5.5003e-10	0.005443	1	0
POLE	5426	broad.mit.edu	37	12	133219893	133219893	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:133219893A>G	ENST00000320574.5	-	35	4511	c.4468T>C	c.(4468-4470)Tac>Cac	p.Y1490H	POLE_ENST00000535270.1_Missense_Mutation_p.Y1463H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1490					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGTGGTGGTACAGGTAGATA	0.602000								DNA polymerases (catalytic subunits)					43	42					0	0	0.013114	0	0
PON1	5444	broad.mit.edu	37	7	94928339	94928339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:94928339G>A	ENST00000222381.3	-	9	1216	c.985C>T	c.(985-987)Caa>Taa	p.Q329*	PON1_ENST00000542556.1_Nonsense_Mutation_p.Q329*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	329					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTACTGCCTTGCAACACTGTG	0.438000													55	26					0	0	0.014410	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186433	79186433	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:79186433A>G	ENST00000331268.5	+	11	984	c.780A>G	c.(778-780)atA>atG	p.I260M	MORF4L1_ENST00000559345.1_Missense_Mutation_p.I133M|MORF4L1_ENST00000558502.1_Missense_Mutation_p.I133M|MORF4L1_ENST00000558746.1_Missense_Mutation_p.I194M|MORF4L1_ENST00000426013.2_Missense_Mutation_p.I221M|MORF4L1_ENST00000379535.4_Missense_Mutation_p.I246M|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	260	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TGGCAGGGATAAAAGAATACT	0.368000													73	118					0	0	0.014410	0	0
LOC344967	344967	broad.mit.edu	37	4	40045152	40045152	+	RNA	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:40045152A>G	ENST00000381811.2	-	0	997					NR_027277.1																						TCACCCCTTCATGCACGAAGC	0.582000													8	21					0	0	0.003080	0	0
S100A7	6278	broad.mit.edu	37	1	153430358	153430358	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:153430358G>C	ENST00000368723.3	-	3	340	c.230C>G	c.(229-231)tCc>tGc	p.S77C	S100A7_ENST00000368722.1_Missense_Mutation_p.S77C	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	77	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCAGCAAGGACAGAAACTC	0.512000													30	67					0	0	0.006320	0	0
TNC	3371	broad.mit.edu	37	9	117826935	117826935	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:117826935C>A	ENST00000350763.4	-	11	3889	c.3478G>T	c.(3478-3480)Gcc>Tcc	p.A1160S	TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1160S|TNC_ENST00000423613.2_Missense_Mutation_p.A1160S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1160	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGAGGCCTCAGCAGAG	0.493000													134	66					1.41179e-77	2.34848e-77	0.014410	1	0
NLRP1	22861	broad.mit.edu	37	17	5487227	5487227	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:5487227C>T	ENST00000345221.3	-	1	605	c.51G>A	c.(49-51)aaG>aaA	p.K17K	NLRP1_ENST00000577119.1_Silent_p.K17K|NLRP1_ENST00000269280.4_Silent_p.K17K|NLRP1_ENST00000572272.1_Silent_p.K17K|NLRP1_ENST00000262467.5_Silent_p.K17K|NLRP1_ENST00000354411.3_Silent_p.K17K|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	17	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTCCTCCTTCTTCAGGAACT	0.602000													5	1					0	0	0.014758	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40226472	40226472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:40226472G>T	ENST00000263791.5	+	1	119	c.76G>T	c.(76-78)Gag>Tag	p.E26*	EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.E26*|EIF2AK4_ENST00000560648.1_Nonsense_Mutation_p.E26*|EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.E26*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	26	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACAGGACCACGAGCTACAGGC	0.731000													4	15					0.00909568	0.00931905	0.009096	1	0
SLC35F1	222553	broad.mit.edu	37	6	118635284	118635284	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:118635284G>C	ENST00000360388.4	+	8	1297	c.1096G>C	c.(1096-1098)Gtg>Ctg	p.V366L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	366					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGACCCCCGAGTGTATAAGCA	0.532000													58	75					0	0	0.014410	0	0
ERAS	3266	broad.mit.edu	37	X	48687842	48687842	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:48687842G>A	ENST00000338270.1	+	1	560	c.309G>A	c.(307-309)agG>agA	p.R103R		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	103					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CCATCCATAGGGCCCTGCGTG	0.597000													39	21					0	0	0.011902	0	0
TIMM8B	26521	broad.mit.edu	37	11	111957432	111957432	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:111957432C>T	ENST00000504148.2	-	1	87	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TIMM8B_ENST00000507614.1_5'UTR|TIMM8B_ENST00000541231.1_Missense_Mutation_p.E21K	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	6					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCATCGGCTTCGCCCAGCTCC	0.652000											OREG0021332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0.004672	0	0
OR52A5	390054	broad.mit.edu	37	11	5153664	5153664	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5153664G>C	ENST00000307388.1	-	1	208	c.209C>G	c.(208-210)gCc>gGc	p.A70G		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A70D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATGTCTGTGGCTGCCAACAT	0.363000													27	22					0	0	0.007291	0	0
FAM189A2	9413	broad.mit.edu	37	9	72006543	72006543	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:72006543A>T	ENST00000257515.8	+	11	1596	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	FAM189A2_ENST00000455972.1_Silent_p.T392T|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Silent_p.T227T|FAM189A2_ENST00000377216.3_Silent_p.T179T	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	392						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCCCAGCACATCCAGGGCCC	0.607000													35	17					0	0	0.021022	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104184	62104184	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:62104184G>T	ENST00000551449.1	-	3	299	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GATTTCTCCTGGGTTAATGGG	0.333000													65	111					7.33394e-39	1.1841e-38	0.014410	1	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404791	53404791	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:53404791G>A	ENST00000565421.1	-	0	250																											CCAATTTGCTGATATCAAAGT	0.413000													17	25					0	0	0.004990	0	0
GLRA3	8001	broad.mit.edu	37	4	175636719	175636719	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:175636719A>T	ENST00000274093.3	-	5	996	c.494T>A	c.(493-495)tTa>tAa	p.L165*	GLRA3_ENST00000340217.5_Nonsense_Mutation_p.L165*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	165					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TGTTAATGTTAATCTGAAAGT	0.313000													29	11					0	0	0.009535	0	0
PHF3	23469	broad.mit.edu	37	6	64408185	64408185	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:64408185C>T	ENST00000262043.3	+	7	3093	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	PHF3_ENST00000393387.1_Missense_Mutation_p.S918F			Q92576	PHF3_HUMAN	PHD finger protein 3	918					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTGCTGCTTCTGCTTCCAAG	0.343000													45	77					0	0	0.014410	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641217	161641217	+	Missense_Mutation	SNP	C	C	A	rs10917661		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:161641217C>A	ENST00000367962.4	+	3	296	c.169C>A	c.(169-171)Cag>Aag	p.Q57K	FCGR2B_ENST00000236937.9_Missense_Mutation_p.Q57K|FCGR2B_ENST00000358671.5_Missense_Mutation_p.Q57K|FCGR2B_ENST00000367961.4_Missense_Mutation_p.Q50K|FCGR2B_ENST00000428605.2_Missense_Mutation_p.Q57K|FCGR2B_ENST00000403078.3_Missense_Mutation_p.Q57K|FCGR2B_ENST00000367960.5_Missense_Mutation_p.Q50K			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	57	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTCGAGCCCCAGTGGATCAA	0.577000			T	?	ALL								17	62					1.99824e-07	2.26293e-07	0.004990	1	0
MRFAP1	93621	broad.mit.edu	37	4	6642817	6642817	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:6642817G>C	ENST00000320912.4	+	2	881	c.228G>C	c.(226-228)gaG>gaC	p.E76D	MRFAP1_ENST00000382581.4_Missense_Mutation_p.E76D|MRFAP1_ENST00000507420.1_Missense_Mutation_p.E76D	NM_001272053.1	NP_001258982.1	Q9Y605	MOFA1_HUMAN	Morf4 family associated protein 1	76						nucleus|perinuclear region of cytoplasm	protein binding			lung(1)	1						CCTCGGAGGAGAGCGCCCTCA	0.662000													28	69					0	0	0.006320	0	0
MS4A15	219995	broad.mit.edu	37	11	60541372	60541372	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:60541372G>T	ENST00000405633.3	+	6	640	c.561G>T	c.(559-561)gcG>gcT	p.A187A	MS4A15_ENST00000528170.1_Silent_p.A146A|MS4A15_ENST00000337911.4_Silent_p.A94A	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	187						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						TCTTCACAGCGGTCATTGCCA	0.587000													28	90					1.17739e-12	1.49759e-12	0.005443	1	0
RABEP2	79874	broad.mit.edu	37	16	28935892	28935892	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:28935892C>T	ENST00000358201.4	-	2	694	c.106G>A	c.(106-108)Gag>Aag	p.E36K	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.E36K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	36					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCACCTGACTCGGCCTCACCA	0.637000													22	35					0	0	0.014323	0	0
CASP4	837	broad.mit.edu	37	11	104817917	104817917	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:104817917T>A	ENST00000444739.2	-	7	1838	c.928A>T	c.(928-930)Aac>Tac	p.N310Y	CASP4_ENST00000393150.3_Missense_Mutation_p.N254Y	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	310					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAGGACACGTTGTCTATAATG	0.383000													43	63					0	0	0.008740	0	0
POMP	51371	broad.mit.edu	37	13	29236608	29236608	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:29236608G>T	ENST00000380842.4	+	2	146	c.65G>T	c.(64-66)aGt>aTt	p.S22I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	22					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		CTTTCAGCAAGTGGACCTTTT	0.328000													31	68					6.97489e-18	9.53448e-18	0.021022	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744574	37744574	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:37744574C>G	ENST00000539465.1	+	16	3138	c.2545C>G	c.(2545-2547)Cag>Gag	p.Q849E	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q849E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	849						cytoskeleton|cytosol|plasma membrane		p.Q849E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTACACCTCTCAGGTCTCATT	0.572000													10	56					0	0	0.006214	0	0
C2CD5	9847	broad.mit.edu	37	12	22624344	22624344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:22624344C>A	ENST00000333957.4	-	20	2602	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E783*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E785*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E796*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E783*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E774*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E598*	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TGAATTAATTCATCTTCAGGC	0.294000													9	34					6.40141e-05	6.8549e-05	0.010729	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136857	80136857	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:80136857G>T	ENST00000466387.1	+	11	1714	c.990G>T	c.(988-990)agG>agT	p.R330S	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R364S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R330S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R330S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	330					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R330S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCGCGAGAGGATCGTGGCGG	0.627000													11	78					2.27111e-07	2.56916e-07	0.013537	1	0
APPL1	26060	broad.mit.edu	37	3	57283510	57283510	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:57283510C>T	ENST00000288266.3	+	11	1133	c.986C>T	c.(985-987)tCa>tTa	p.S329L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	329	PH.|Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GACAACTGTTCAGTGATGGCT	0.433000													44	25					0	0	0.014410	0	0
ADD3	120	broad.mit.edu	37	10	111876108	111876108	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:111876108C>T	ENST00000277900.8	+	4	791	c.426C>T	c.(424-426)gcC>gcT	p.A142A	ADD3_ENST00000360162.3_Silent_p.A142A|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Silent_p.A142A	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	142						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTAAACTTGCCAGCCTGTACA	0.418000													27	46					0	0	0.007291	0	0
TLR7	51284	broad.mit.edu	37	X	12905137	12905137	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:12905137A>T	ENST00000380659.3	+	3	1649	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	504					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAGTAAAAATAGTATATTTTT	0.373000													72	47					0	0	0.014410	0	0
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTTCCGATGGCTTCTG	0.453000													80	41					0	0	0.014410	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312430	102312430	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:102312430C>A	ENST00000561463.1	+	0	13798																											CTGGACCAGCCTGATGATGTC	0.577000													24	30					1.7881e-09	2.11211e-09	0.008361	1	0
NKPD1	284353	broad.mit.edu	37	19	45655642	45655642	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:45655642C>G	ENST00000317951.4	-	4	2052	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q	NKPD1_ENST00000429338.1_Missense_Mutation_p.E463Q|NKPD1_ENST00000589776.1_Missense_Mutation_p.E463Q|NKPD1_ENST00000438936.2_Missense_Mutation_p.E463Q	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		gcgcggccctcgggcgcgccc	0.726000													3	8					0	0	0.004672	0	0
EFHC2	80258	broad.mit.edu	37	X	44101396	44101396	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:44101396C>T	ENST00000420999.1	-	8	1334	c.1251G>A	c.(1249-1251)agG>agA	p.R417R		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	417							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TCTTGAAGTTCCTCCGATGAG	0.408000													6	2					0	0	0.001168	0	0
EPPK1	83481	broad.mit.edu	37	8	144942702	144942702	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:144942702C>A	ENST00000525985.1	-	2	4791	c.4720G>T	c.(4720-4722)Gcc>Tcc	p.A1574S				P58107	EPIPL_HUMAN	epiplakin 1	1574						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGACCCCGGCAATGAAGTTG	0.647000													6	8					0.00116845	0.00121869	0.001168	1	0
PPM1M	132160	broad.mit.edu	37	3	52283052	52283052	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:52283052C>T	ENST00000296487.4	+	8	980	c.576C>T	c.(574-576)ctC>ctT	p.L192L	PPM1M_ENST00000457351.2_Silent_p.L353L|PPM1M_ENST00000323588.4_Silent_p.L192L|PPM1M_ENST00000409502.3_Silent_p.L141L			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	192	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACATCCAGCTCAAGCCCTTCT	0.592000													6	8					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82784308	82784308	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:82784308G>A	ENST00000423517.2	-	2	1986	c.1649C>T	c.(1648-1650)tCg>tTg	p.S550L	PCLO_ENST00000333891.8_Missense_Mutation_p.S550L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	496	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTGAGCCGAGGGCTTTGC	0.537000													138	77					0	0	0.014410	0	0
ERBB4	2066	broad.mit.edu	37	2	212543796	212543796	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:212543796A>T	ENST00000342788.4	-	13	1913	c.1603T>A	c.(1603-1605)Tct>Act	p.S535T	ERBB4_ENST00000436443.1_Missense_Mutation_p.S535T|ERBB4_ENST00000402597.1_Missense_Mutation_p.S535T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	535	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGTTACAAGACTCTATGCAG	0.453000										TSP Lung(8;0.080)			7	11					0	0	0.003080	0	0
CR1L	1379	broad.mit.edu	37	1	207868009	207868009	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:207868009C>A	ENST00000508064.2	+	5	835	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	259	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTTTAGGTGTCAGCCTGGCTT	0.473000													78	153					2.17451e-35	3.46792e-35	0.014410	1	0
CDH16	1014	broad.mit.edu	37	16	66946294	66946294	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:66946294T>A	ENST00000299752.4	-	12	1592	c.1399A>T	c.(1399-1401)Act>Tct	p.T467S	CDH16_ENST00000568632.1_Missense_Mutation_p.T370S|CDH16_ENST00000565796.1_Missense_Mutation_p.T467S|CDH16_ENST00000570262.1_Missense_Mutation_p.T387S|CDH16_ENST00000394055.3_Missense_Mutation_p.T467S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	467	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCACCAGAGTCCCGGGCTCC	0.597000													14	58					0	0	0.016723	0	0
RUVBL1	8607	broad.mit.edu	37	3	127842454	127842454	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:127842454C>T	ENST00000322623.5	-	1	213	c.114G>A	c.(112-114)ggG>ggA	p.G38G	RUVBL1_ENST00000417360.1_Silent_p.G38G|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	38					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGCCCACAAGCCCTGAGGCCG	0.667000													6	34					0	0	0.001168	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797513	42797513	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:42797513C>G	ENST00000314073.5	+	6	1618	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S481C					GLTSCR1-like																		TTTGCTGCCTCTGGAAGTCCA	0.517000													29	140					0	0	0.009535	0	0
IARS2	55699	broad.mit.edu	37	1	220275943	220275943	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:220275943A>G	ENST00000366922.1	+	6	971	c.640A>G	c.(640-642)Ata>Gta	p.I214V	IARS2_ENST00000302637.5_Missense_Mutation_p.I286V			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	286					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGCATCTCTTATAGGTAAGAT	0.333000													11	39					0	0	0.010729	0	0
BIRC6	57448	broad.mit.edu	37	2	32735027	32735027	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:32735027G>C	ENST00000421745.2	+	52	10337	c.10203G>C	c.(10201-10203)ctG>ctC	p.L3401L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3401					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACATTCTCCTGAGAAATTGTG	0.403000													18	80					0	0	0.004990	0	0
DHX37	57647	broad.mit.edu	37	12	125455932	125455932	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:125455932C>T	ENST00000308736.2	-	8	1205	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	DHX37_ENST00000544745.1_Silent_p.V156V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	369	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CGTCGATGATCACCACCTTGT	0.647000													3	15					0	0	0.004672	0	0
EDAR	10913	broad.mit.edu	37	2	109513387	109513387	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:109513387G>A	ENST00000409271.1	-	12	1862	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	EDAR_ENST00000376651.1_Silent_p.A473A|EDAR_ENST00000258443.2_Silent_p.A441A			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	441					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGGCTGGGAGGCAGGTGGCA	0.592000													9	11					0	0	0.006214	0	0
NIT1	4817	broad.mit.edu	37	1	161089340	161089340	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:161089340G>T	ENST00000368008.1	+	4	454	c.395G>T	c.(394-396)cGt>cTt	p.R132L	NIT1_ENST00000368009.2_Missense_Mutation_p.R132L|NIT1_ENST00000392190.5_Missense_Mutation_p.R96L|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368007.4_Missense_Mutation_p.R117L	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	132	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCCATGAGCGTGGCCAAGAC	0.512000											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	35					7.41945e-09	8.61747e-09	0.005443	1	0
NALCN	259232	broad.mit.edu	37	13	101717848	101717848	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:101717848G>T	ENST00000251127.6	-	40	4593	c.4512C>A	c.(4510-4512)gaC>gaA	p.D1504E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1504						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGTCCAGGTCCACCTCCA	0.572000													35	64					3.86903e-22	5.65182e-22	0.013726	1	0
TRAK1	22906	broad.mit.edu	37	3	42244330	42244330	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:42244330C>G	ENST00000449246.1	+	12	1909	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGGGCACCTCTGTCACGCCT	0.652000													5	2					0	0	0.014758	0	0
ABCA10	10349	broad.mit.edu	37	17	67171589	67171589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:67171589G>T	ENST00000269081.4	-	24	3744	c.2835C>A	c.(2833-2835)tgC>tgA	p.C945*	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	945					transport	integral to membrane	ATP binding|ATPase activity	p.C945C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGGAGAAACGCAGTTTGTGA	0.368000													12	56					5.50884e-06	6.08012e-06	0.013537	1	0
SMARCA4	6597	broad.mit.edu	37	19	11130300	11130300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:11130300C>T	ENST00000358026.2	+	18	2823	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*	SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Q847*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	847	Helicase ATP-binding.				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)				CTTTGTCCCCCAGCTCCGGAG	0.587000			"""F, N, Mis"""		NSCLC								8	3					0	0	0.008291	0	0
CACNA1B	774	broad.mit.edu	37	9	140953611	140953611	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:140953611C>G	ENST00000277549.5	+	31	4711	c.2142C>G	c.(2140-2142)tgC>tgG	p.C714W	CACNA1B_ENST00000371355.4_Missense_Mutation_p.C1519W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.C1519W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.C1518W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.C1518W|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C1518W			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1518					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGGAATGCGTGCTGAAGA	0.507000													25	6					0	0	0.005443	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720199	13720199	+	Splice_Site	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:13720199T>C	ENST00000279593.3	-	12	2569		c.e12-2			NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATCTCCCCTGGggaaagga	0.468000													16	30					0	0	0.004007	0	0
ITGA5	3678	broad.mit.edu	37	12	54797060	54797060	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:54797060T>A	ENST00000293379.4	-	18	2086	c.1825A>T	c.(1825-1827)Aac>Tac	p.N609Y	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	609					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AAGGAGAAGTTGAGAGCGATG	0.567000													104	138					0	0	0.014410	0	0
RAG1	5896	broad.mit.edu	37	11	36597072	36597072	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:36597072G>T	ENST00000299440.5	+	2	2330	c.2218G>T	c.(2218-2220)Gcc>Tcc	p.A740S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	740					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCGTCTGGAAGCCTCTCAAAA	0.507000									Familial Hemophagocytic Lymphohistiocytosis				51	25					2.81731e-22	4.12704e-22	0.014410	1	0
TRAK2	66008	broad.mit.edu	37	2	202252561	202252561	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:202252561C>A	ENST00000332624.3	-	13	1989	c.1561G>T	c.(1561-1563)Gtt>Ttt	p.V521F		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	521				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CAGCCACTAACTCCTTCCTTC	0.517000													37	88					1.30998e-17	1.7837e-17	0.005524	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765551	77765551	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:77765551C>A	ENST00000521891.2	+	10	6842	c.6394C>A	c.(6394-6396)Cca>Aca	p.P2132T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2087T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2106T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2087T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2087						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)			GTTCAAACGCCCACGGACAAG	0.453000										HNSCC(33;0.089)			8	3					0.00448238	0.00463342	0.004482	1	0
ENPP1	5167	broad.mit.edu	37	6	132189200	132189200	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:132189200C>G	ENST00000360971.2	+	12	1227	c.1207C>G	c.(1207-1209)Ctg>Gtg	p.L403V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	403	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGTTGGTATGCTGATGGATGG	0.413000													33	55					0	0	0.013726	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845921	94845921	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:94845921C>A	ENST00000448921.1	-	6	1517	c.945G>T	c.(943-945)ctG>ctT	p.L315L	SERPINA1_ENST00000404814.4_Silent_p.L315L|SERPINA1_ENST00000355814.4_Silent_p.L315L|SERPINA1_ENST00000437397.1_Silent_p.L315L|SERPINA1_ENST00000393087.4_Silent_p.L315L|SERPINA1_ENST00000449399.3_Silent_p.L315L|SERPINA1_ENST00000402629.1_Silent_p.L315L|SERPINA1_ENST00000393088.4_Silent_p.L315L|SERPINA1_ENST00000440909.1_Silent_p.L315L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	315					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CAGTAATGGACAGTTTGGGTA	0.517000													45	54					1.41504e-22	2.07578e-22	0.011902	1	0
PAH	5053	broad.mit.edu	37	12	103310881	103310881	+	Translation_Start_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:103310881C>A	ENST00000307000.2	-	0	151				PAH_ENST00000551988.1_5'UTR|PAH_ENST00000553106.1_Missense_Mutation_p.G10C			P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTGCCCAAGCCTGGGTTTTCC	0.577000													12	26					4.93089e-13	6.29488e-13	0.020292	1	0
KRT77	374454	broad.mit.edu	37	12	53086622	53086622	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:53086622G>T	ENST00000341809.3	-	6	1151	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.L142M	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	375	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGTTCTTCAGGTCGTCTCCA	0.587000													40	55					2.59497e-14	3.39167e-14	0.007835	1	0
RYR3	6263	broad.mit.edu	37	15	33893753	33893753	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:33893753G>T	ENST00000389232.4	+	17	1992	c.1922_splice	c.e17+1	p.S641_splice	RYR3_ENST00000415757.3_Splice_Site_p.S641_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	641	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATGTAACCAGGTAAGGCCAC	0.517000													5	20					0.000602214	0.000633175	0.014758	1	0
CSMD3	114788	broad.mit.edu	37	8	113421187	113421187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:113421187G>A	ENST00000297405.5	-	33	5714	c.5470C>T	c.(5470-5472)Caa>Taa	p.Q1824*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1720*|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1784*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1824	CUB 10.					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						AGAGAAGATTGCTGAGTTGGC	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			65	47					0	0	0.014410	0	0
SELE	6401	broad.mit.edu	37	1	169699709	169699709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:169699709G>T	ENST00000333360.7	-	5	718	c.579C>A	c.(577-579)tgC>tgA	p.C193*	SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Nonsense_Mutation_p.C193*|SELE_ENST00000367780.4_Intron|SELE_ENST00000367776.1_Nonsense_Mutation_p.C193*|SELE_ENST00000367774.1_Nonsense_Mutation_p.C193*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.C193*|SELE_ENST00000367777.1_Nonsense_Mutation_p.C193*|SELE_ENST00000367779.4_Nonsense_Mutation_p.C193*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	193	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTGGGTGACTGCAAACCAGGC	0.478000													23	44					7.92952e-12	9.86932e-12	0.021523	1	0
RIMKLA	284716	broad.mit.edu	37	1	42880284	42880284	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:42880284G>T	ENST00000431473.3	+	5	944	c.815G>T	c.(814-816)tGt>tTt	p.C272F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	272	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTGTGGTGTGTGAGGCAAAT	0.483000													139	165					3.68518e-59	6.11073e-59	0.014410	1	0
SALL1	6299	broad.mit.edu	37	16	51173830	51173830	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:51173830C>A	ENST00000440970.1	-	2	2443	c.2012G>T	c.(2011-2013)tGc>tTc	p.C671F	SALL1_ENST00000251020.4_Missense_Mutation_p.C768F|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	768					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAGATGGGGCAGGAATGCTG	0.562000													30	41					1.80694e-10	2.16875e-10	0.009535	1	0
HRNR	388697	broad.mit.edu	37	1	152188472	152188472	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:152188472G>A	ENST00000368801.2	-	3	5708	c.5633C>T	c.(5632-5634)tCa>tTa	p.S1878L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1878					keratinization		calcium ion binding|protein binding	p.S1878*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACTGCCATGAGCTAGACTC	0.557000													152	1651					0	0	0.014410	0	0
RPL23AP7	118433	broad.mit.edu	37	2	114369730	114369730	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:114369730C>A	ENST00000416673.2	-	0	426					NR_000029.3																						CGTGTGGCTGCGGACACCTTT	0.562000													33	48					9.57592e-29	1.47747e-28	0.014410	1	0
ROBO2	6092	broad.mit.edu	37	3	77693963	77693963	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:77693963T>A	ENST00000461745.1	+	25	4943	c.4043T>A	c.(4042-4044)gTg>gAg	p.V1348E	ROBO2_ENST00000487694.3_Missense_Mutation_p.V1364E|ROBO2_ENST00000332191.8_Missense_Mutation_p.V1409E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1348					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAAACCGAGGTGTTGAGAGCA	0.512000													31	20					0	0	0.012213	0	0
RNF122	79845	broad.mit.edu	37	8	33416288	33416288	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:33416288C>A	ENST00000256257.1	-	2	428	c.25_splice	c.e2-1	p.G9_splice		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	9						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CACAGAAACACCCTGCAAAGG	0.493000													35	35					6.90743e-12	8.63842e-12	0.017118	1	0
RPUSD4	84881	broad.mit.edu	37	11	126079500	126079500	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:126079500C>A	ENST00000298317.4	-	3	526	c.473G>T	c.(472-474)gGt>gTt	p.G158V	RPUSD4_ENST00000533628.1_Missense_Mutation_p.G158V|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	158					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|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;0.0761)		CACCATTACACCTGTGGTTTC	0.517000													112	307					1.39691e-52	2.30899e-52	0.014410	1	0
C1orf226	400793	broad.mit.edu	37	1	162353418	162353418	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:162353418G>T	ENST00000458626.2	+	2	936	c.764G>T	c.(763-765)cGg>cTg	p.R255L	C1orf226_ENST00000426197.2_Missense_Mutation_p.R298L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	255										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCAGGCACGGACCTCCAGC	0.602000													6	11					0.00198382	0.00206499	0.001984	1	0
EPB41L5	57669	broad.mit.edu	37	2	120849190	120849190	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:120849190A>G	ENST00000263713.5	+	13	1317	c.1103A>G	c.(1102-1104)gAa>gGa	p.E368G	EPB41L5_ENST00000331393.4_Missense_Mutation_p.E368G|EPB41L5_ENST00000452780.1_Missense_Mutation_p.E368G|EPB41L5_ENST00000443902.2_Missense_Mutation_p.E368G|EPB41L5_ENST00000443124.1_Missense_Mutation_p.E368G	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	368						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACATCCTTTGAAAGAAGGCCC	0.363000													50	39					0	0	0.014410	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541474	86541474	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:86541474C>A	ENST00000450689.2	-	15	2268	c.2083G>T	c.(2083-2085)Gtg>Ttg	p.V695L	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V528L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V624L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V455L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	695						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATGAGCCCACACTGCTGAGG	0.408000													10	63					1.5739e-10	1.89121e-10	0.004007	1	0
PRLHR	2834	broad.mit.edu	37	10	120354232	120354232	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:120354232G>T	ENST00000239032.2	-	2	663	c.525C>A	c.(523-525)ctC>ctA	p.L175L	PRLHR_ENST00000369169.1_Silent_p.L175L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	175					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGTAGGCGCTGAGGCGCAGCG	0.687000													6	6					0.00116845	0.00121869	0.001168	1	0
DUSP27	92235	broad.mit.edu	37	1	167096795	167096795	+	Silent	SNP	G	G	T	rs142434634	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:167096795G>T	ENST00000361200.2	+	6	2593	c.2427G>T	c.(2425-2427)gcG>gcT	p.A809A	DUSP27_ENST00000443333.1_Silent_p.A809A|DUSP27_ENST00000271385.5_Silent_p.A809A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	809					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTCACCCGCGGAAAGTTGCA	0.572000													32	65					2.2171e-23	3.28471e-23	0.009535	1	0
GLG1	2734	broad.mit.edu	37	16	74499596	74499596	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:74499596C>A	ENST00000422840.2	-	19	2644	c.2645G>T	c.(2644-2646)aGg>aTg	p.R882M	GLG1_ENST00000205061.5_Missense_Mutation_p.R882M|GLG1_ENST00000447066.2_Missense_Mutation_p.R871M	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	882						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTTGCAGACCCTCATGAGGGT	0.478000													65	166					1.40369e-38	2.26282e-38	0.014410	1	0
LIG1	3978	broad.mit.edu	37	19	48636252	48636252	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:48636252C>A	ENST00000263274.7	-	18	2131	c.1712G>T	c.(1711-1713)gGg>gTg	p.G571V	LIG1_ENST00000427526.2_Missense_Mutation_p.G540V|LIG1_ENST00000536218.1_Missense_Mutation_p.G503V	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	571					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGCCCTCTGCCCGTCATATTT	0.567000								Nucleotide excision repair (NER)					132	106					4.84192e-58	8.01607e-58	0.014410	1	0
LPA	4018	broad.mit.edu	37	6	161007593	161007593	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:161007593G>A	ENST00000447678.1	-	26	4137	c.4017C>T	c.(4015-4017)ccC>ccT	p.P1339P	LPA_ENST00000316300.5_Silent_p.P1339P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3847	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1339P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGACACTGGGATCCATGG	0.512000													38	50					0	0	0.021022	0	0
UNC5A	90249	broad.mit.edu	37	5	176304927	176304927	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:176304927C>A	ENST00000329542.4	+	11	1942	c.1668C>A	c.(1666-1668)tcC>tcA	p.S556S	UNC5A_ENST00000261961.3_Silent_p.S516S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	556					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCGCCCTCCCACCTCTACT	0.672000													15	7					2.31682e-05	2.50929e-05	0.003163	1	0
TBX22	50945	broad.mit.edu	37	X	79286491	79286491	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:79286491C>T	ENST00000442340.1	+	9	1574	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	TBX22_ENST00000373296.3_Missense_Mutation_p.P482S|TBX22_ENST00000373291.1_Missense_Mutation_p.P362S|TBX22_ENST00000373294.5_Missense_Mutation_p.P482S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	482					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						TTTCTCTATGCCATCTAGACT	0.393000													35	24					0	0	0.015359	0	0
OR4D5	219875	broad.mit.edu	37	11	123810822	123810822	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:123810822C>T	ENST00000307033.2	+	1	573	c.499C>T	c.(499-501)Cca>Tca	p.P167S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TATCCAGCTGCCATTCTGTGG	0.478000													45	102					0	0	0.009718	0	0
PCSK5	5125	broad.mit.edu	37	9	78772037	78772037	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:78772037C>A	ENST00000545128.1	+	11	1927	c.1389C>A	c.(1387-1389)ccC>ccA	p.P463P	PCSK5_ENST00000376752.4_Silent_p.P463P|PCSK5_ENST00000376767.3_Silent_p.P463P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	463	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACCGTTCCCCGGCAGCACG	0.527000													35	26					6.53348e-20	9.36046e-20	0.017118	1	0
TBX5	6910	broad.mit.edu	37	12	114793871	114793871	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:114793871G>T	ENST00000310346.4	-	9	1689	c.1023C>A	c.(1021-1023)ccC>ccA	p.P341P	TBX5_ENST00000349716.5_Silent_p.P291P|TBX5_ENST00000405440.2_Silent_p.P341P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	341					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTCCATGTAGGGCTTCTTAT	0.552000													39	67					1.04594e-18	1.45649e-18	0.006230	1	0
GLDC	2731	broad.mit.edu	37	9	6605134	6605134	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:6605134A>T	ENST00000321612.6	-	6	1008	c.858T>A	c.(856-858)agT>agA	p.S286R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	286					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TACCTACCCCACTCTGATGAG	0.493000													51	8					0	0	0.014410	0	0
NAT6	24142	broad.mit.edu	37	3	50334259	50334259	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:50334259G>A	ENST00000443842.1	-	2	1443	c.636C>T	c.(634-636)ttC>ttT	p.F212F	HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000417393.1_Silent_p.F212F|NAT6_ENST00000443094.2_Silent_p.F212F|NAT6_ENST00000354862.4_Silent_p.F234F					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGTGGGGAAGGCATTAA	0.657000													9	19					0	0	0.006214	0	0
CTAG2	30848	broad.mit.edu	37	X	153880633	153880633	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:153880633C>G	ENST00000247306.4	-	2	605	c.542G>C	c.(541-543)gGt>gCt	p.G181A	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	181						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGGTGTACCAGGTCTCTG	0.602000													59	27					0	0	0.014410	0	0
DDHD1	80821	broad.mit.edu	37	14	53529775	53529775	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:53529775T>A	ENST00000357758.3	-	7	1835	c.1652A>T	c.(1651-1653)aAt>aTt	p.N551I	DDHD1_ENST00000323669.5_Missense_Mutation_p.N551I|DDHD1_ENST00000395606.1_Missense_Mutation_p.N558I	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	551					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCGAACTGGATTCCAGCCAGT	0.408000													91	40					0	0	0.014410	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242408	18242408	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:18242408T>C	ENST00000377369.2	+	2	476	c.203T>C	c.(202-204)tTg>tCg	p.L68S	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L68S|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L68S|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	68					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATCAAAACATTGTTGGAGAAA	0.522000													28	14					0	0	0.007291	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417959	1417959	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:1417959G>T	ENST00000308647.7	+	7	831	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	ATAD3B_ENST00000378741.3_Missense_Mutation_p.A71S|ATAD3B_ENST00000378736.2_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	239							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGATTCCGTGCCTTTGTGAC	0.582000													60	23					1.34568e-36	2.16262e-36	0.014410	1	0
COL28A1	340267	broad.mit.edu	37	7	7545662	7545662	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:7545662C>T	ENST00000399429.3	-	11	1149	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	337	Collagen-like 2.				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)		CCTTGAAACCCCTTTGGGCCT	0.433000													25	54					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238280467	238280467	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:238280467G>A	ENST00000295550.4	-	9	4645	c.4193C>T	c.(4192-4194)cCc>cTc	p.P1398L	COL6A3_ENST00000472056.1_Missense_Mutation_p.P791L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1192L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1192L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1197L|COL6A3_ENST00000392004.3_Missense_Mutation_p.P1192L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1198L|COL6A3_ENST00000392003.2_Missense_Mutation_p.P991L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1398	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCCAGGCTGGGCAGCTCCCG	0.597000													14	46					0	0	0.016723	0	0
RILPL1	353116	broad.mit.edu	37	12	123984071	123984071	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:123984071C>A	ENST00000376874.4	-	3	708	c.473G>T	c.(472-474)cGg>cTg	p.R158L	RILPL1_ENST00000340724.6_Missense_Mutation_p.R6L	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	158					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTGTCGCTCCCGCTCTGACAT	0.562000													24	18					3.7963e-18	5.23058e-18	0.018920	1	0
OR8I2	120586	broad.mit.edu	37	11	55861085	55861085	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:55861085T>A	ENST00000302124.2	+	1	333	c.302T>A	c.(301-303)aTg>aAg	p.M101K	OR8I2_ENST00000560768.1_Missense_Mutation_p.M101K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTGTTCAAATGTACTTTTTT	0.393000													54	124					0	0	0.014410	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328815	88328815	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:88328815T>A	ENST00000325089.6	+	2	1391	c.1172T>A	c.(1171-1173)gTa>gAa	p.V391E	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V150E	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	391	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCCTCAACGTAAACTGCCAG	0.542000													22	25					0	0	0.010504	0	0
ADCY10	55811	broad.mit.edu	37	1	167871020	167871020	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:167871020T>A	ENST00000367848.1	-	5	537	c.40A>T	c.(40-42)Agg>Tgg	p.R14W	ADCY10_ENST00000367851.4_Missense_Mutation_p.R106W|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	106					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CGCTCCACCCTCCACAGGGCT	0.483000													69	106					0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668658	176668658	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:176668658C>A	ENST00000367662.3	+	8	4333	c.3169C>A	c.(3169-3171)Cgc>Agc	p.R1057S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1057					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGTTCTCCGCGATCCCCC	0.552000													68	92					8.13855e-26	1.22844e-25	0.014410	1	0
DDX43	55510	broad.mit.edu	37	6	74124360	74124360	+	Missense_Mutation	SNP	C	C	T	rs142525774		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:74124360C>T	ENST00000370336.4	+	14	1854	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	566	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGACTTTCCACGGAATATTGA	0.408000													36	60					0	0	0.021022	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996215	40996215	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:40996215G>A	ENST00000244565.3	-	9	1542	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.S485F	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	485	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGATGGCGGAGGCGCAGTC	0.672000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	0.019004	0	0
GATA2	2624	broad.mit.edu	37	3	128200003	128200003	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:128200003A>T	ENST00000341105.2	-	6	1633	c.1302T>A	c.(1300-1302)gcT>gcA	p.A434A	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.A434A|GATA2_ENST00000430265.2_Silent_p.A420A	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	434					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCATGTGTCCAGCCAGGGCAG	0.622000			Mis		AML(CML blast transformation)								22	44					0	0	0.014323	0	0
FBN2	2201	broad.mit.edu	37	5	127644940	127644940	+	Splice_Site	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:127644940T>A	ENST00000508053.1	-	47	6326	c.5353_splice	c.e47+1	p.T1784_splice	FBN2_ENST00000262464.4_Splice_Site_p.T1784_splice			P35556	FBN2_HUMAN	fibrillin 2	1784	TB 7.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTGCTTACCTGTTCCTGGAG	0.453000													12	26					0	0	0.013537	0	0
CLCA4	22802	broad.mit.edu	37	1	87033122	87033122	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:87033122A>G	ENST00000370563.3	+	7	1012	c.970A>G	c.(970-972)Aat>Gat	p.N324D	CLCA4_ENST00000263723.5_Missense_Mutation_p.N37D	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	324	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGACCGCCTAAATCGAATGAA	0.363000													19	32					0	0	0.010504	0	0
WDPCP	51057	broad.mit.edu	37	2	63631499	63631499	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:63631499T>A	ENST00000409120.1	-	4	4093	c.543A>T	c.(541-543)ttA>ttT	p.L181F	WDPCP_ENST00000272321.7_Missense_Mutation_p.L373F|WDPCP_ENST00000409199.1_Missense_Mutation_p.L181F|WDPCP_ENST00000409562.3_Missense_Mutation_p.L373F|WDPCP_ENST00000398544.3_Missense_Mutation_p.L214F|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	373					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAGTCTGTGCTAAGAGAGTCA	0.443000													38	83					0	0	0.005524	0	0
PEAR1	375033	broad.mit.edu	37	1	156883035	156883035	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:156883035C>T	ENST00000338302.3	+	20	2697	c.2472C>T	c.(2470-2472)acC>acT	p.T824T	PEAR1_ENST00000292357.7_Silent_p.T824T			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	824	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTACCACACCCTGTCGCAGT	0.607000													18	153					0	0	0.010504	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769920	43769920	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:43769920G>A	ENST00000389420.3	-	35	5251	c.5252C>T	c.(5251-5253)cCt>cTt	p.P1751L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1751	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATTCCTTAGGGTTCTCCAA	0.323000													6	9					0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41725575	41725575	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:41725575G>C	ENST00000400454.1	-	5	1228	c.751C>G	c.(751-753)Cac>Gac	p.H251D		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	251	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCTCAGGGTGCCCGAGCGCT	0.582000													29	19					0	0	0.005443	0	0
NCAPD2	9918	broad.mit.edu	37	12	6604360	6604360	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:6604360G>A	ENST00000545962.1	+	2	175	c.20G>A	c.(19-21)tGt>tAt	p.C7Y	NCAPD2_ENST00000315579.5_Silent_p.L32L			Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	0	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAGAGGTACTGTCCATCAAAC	0.453000													41	34					0	0	0.006230	0	0
GRIK2	2898	broad.mit.edu	37	6	102503233	102503233	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:102503233A>T	ENST00000369138.1	+	15	2830	c.2340A>T	c.(2338-2340)atA>atT	p.I780I	GRIK2_ENST00000421544.1_Silent_p.I780I|GRIK2_ENST00000369137.3_Silent_p.I704I|GRIK2_ENST00000318991.6_Silent_p.I780I|GRIK2_ENST00000413795.1_Silent_p.I780I|GRIK2_ENST00000369134.4_Silent_p.I731I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	780					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAATTACCATAGCAATTCTTC	0.418000													12	52					0	0	0.013537	0	0
TRIAP1	51499	broad.mit.edu	37	12	120884123	120884123	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:120884123C>G	ENST00000546954.1	-	1	92	c.53G>C	c.(52-54)tGc>tCc	p.C18S	AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	18					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGATTGAAGCACTGGTCGTA	0.612000													23	52					0	0	0.005443	0	0
WASF3	10810	broad.mit.edu	37	13	27241668	27241668	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:27241668A>T	ENST00000361042.4	+	5	508	c.283A>T	c.(283-285)Atc>Ttc	p.I95F	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.I95F			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	95					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ACTACAGGATATCAACATGAA	0.333000													40	58					0	0	0.009718	0	0
WDR19	57728	broad.mit.edu	37	4	39219657	39219657	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:39219657G>A	ENST00000399820.3	+	14	1565	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	WDR19_ENST00000506503.1_Silent_p.Q469Q|WDR19_ENST00000288634.7_Missense_Mutation_p.A311T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	471					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GCTTTTCCCAGCAGTGGATGA	0.378000													45	170					0	0	0.011902	0	0
IAH1	285148	broad.mit.edu	37	2	9614744	9614744	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:9614744C>T	ENST00000497473.1	+	1	86	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000482918.1_Intron	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	17					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTCTGGCCTCGCTTGTTGCT	0.781000													8	10					0	0	0.008291	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739235	15739235	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:15739235C>A	ENST00000441682.2	+	0	1300							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACAGCCGAGTCATCCCCAAAG	0.647000													53	24					9.52127e-25	1.433e-24	0.014410	1	0
UGDH	7358	broad.mit.edu	37	4	39506950	39506950	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:39506950C>T	ENST00000316423.6	-	9	1420	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	UGDH_ENST00000507089.1_Missense_Mutation_p.E263K|UGDH_ENST00000506179.1_Missense_Mutation_p.E360K|UGDH_ENST00000501493.2_Missense_Mutation_p.E293K	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	360					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TGTGCACCTTCATCCATCAAA	0.338000													9	51					0	0	0.004482	0	0
TRAF1	7185	broad.mit.edu	37	9	123671553	123671553	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:123671553C>G	ENST00000373887.3	-	7	3432	c.987G>C	c.(985-987)atG>atC	p.M329I	TRAF1_ENST00000546084.1_Missense_Mutation_p.M207I|TRAF1_ENST00000540010.1_Missense_Mutation_p.M329I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	329	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACTCCCCTCTCATGATCACGA	0.547000													71	226					0	0	0.014410	0	0
TRPM3	80036	broad.mit.edu	37	9	73235030	73235030	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:73235030C>G	ENST00000377110.2	-	15	2298	c.2055G>C	c.(2053-2055)atG>atC	p.M685I	TRPM3_ENST00000396285.1_Missense_Mutation_p.M532I|TRPM3_ENST00000358082.3_Missense_Mutation_p.M547I|TRPM3_ENST00000377106.1_Missense_Mutation_p.M557I|TRPM3_ENST00000357533.2_Missense_Mutation_p.M689I|TRPM3_ENST00000377111.2_Missense_Mutation_p.M685I|TRPM3_ENST00000408909.2_Missense_Mutation_p.M544I|TRPM3_ENST00000360823.2_Missense_Mutation_p.M547I|TRPM3_ENST00000396280.5_Missense_Mutation_p.M534I|TRPM3_ENST00000423814.3_Missense_Mutation_p.M712I|TRPM3_ENST00000396292.4_Missense_Mutation_p.M557I|TRPM3_ENST00000377105.1_Missense_Mutation_p.M544I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	710						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCGTCAACCATGTCGTTCT	0.602000													19	16					0	0	0.010504	0	0
UNC5A	90249	broad.mit.edu	37	5	176304928	176304928	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:176304928C>A	ENST00000329542.4	+	11	1943	c.1669C>A	c.(1669-1671)Cac>Aac	p.H557N	UNC5A_ENST00000261961.3_Missense_Mutation_p.H517N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	557					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGCCCTCCCACCTCTACTA	0.672000													15	7					2.31682e-05	2.50929e-05	0.003163	1	0
KIAA1429	25962	broad.mit.edu	37	8	95523654	95523654	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:95523654G>A	ENST00000297591.5	-	13	3224	c.3149C>T	c.(3148-3150)tCa>tTa	p.S1050L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1050L|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S1050L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1050					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAACGACCTGAGAGGGGGAT	0.393000													8	30					0	0	0.006214	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745615	140745615	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140745615C>A	ENST00000518069.1	+	1	1718	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGTTCCACGGGCGTGGAG	0.617000													103	47					3.24833e-45	5.34386e-45	0.014410	1	0
UMODL1	89766	broad.mit.edu	37	21	43510525	43510525	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:43510525G>T	ENST00000400427.1	+	6	1088	c.692G>T	c.(691-693)cGg>cTg	p.R231L	UMODL1_ENST00000408910.2_Missense_Mutation_p.R303L|UMODL1_ENST00000408989.2_Missense_Mutation_p.R303L|UMODL1_ENST00000400424.1_Missense_Mutation_p.R231L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	303						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGTCTCCACGGAAGCTGAAC	0.562000													27	36					1.42536e-11	1.76561e-11	0.004656	1	0
KIF2B	84643	broad.mit.edu	37	17	51902314	51902314	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:51902314G>T	ENST00000268919.4	+	1	2076	c.1920G>T	c.(1918-1920)cgG>cgT	p.R640R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	640					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCATTGCCCGGTCTTTGTCCA	0.443000													26	20					4.26978e-12	5.37847e-12	0.018920	1	0
DAXX	1616	broad.mit.edu	37	6	33287334	33287334	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:33287334G>T	ENST00000374542.5	-	6	1967	c.1763C>A	c.(1762-1764)tCt>tAt	p.S588Y	DAXX_ENST00000414083.2_Missense_Mutation_p.S513Y|DAXX_ENST00000266000.6_Missense_Mutation_p.S588Y	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	588	Interaction with MAP3K5.				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	p.S588F(1)		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						CTTCCTGGAAGAGGAAATGTC	0.522000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								27	88					1.33986e-20	1.93022e-20	0.004656	1	0
ATM	472	broad.mit.edu	37	11	108122644	108122644	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:108122644T>C	ENST00000278616.4	+	11	2073	c.1688T>C	c.(1687-1689)aTg>aCg	p.M563T	ATM_ENST00000452508.2_Missense_Mutation_p.M563T	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	563					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGCAAAATATGTGTGAAGTA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			41	63					0	0	0.006230	0	0
NLRP2	55655	broad.mit.edu	37	19	55481502	55481502	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:55481502A>G	ENST00000543010.1	+	2	262	c.119A>G	c.(118-120)cAg>cGg	p.Q40R	NLRP2_ENST00000448584.2_Missense_Mutation_p.Q40R|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q40R|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q40R|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q40R|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q40R|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q40R|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q40R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	40	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGAGCTCCAGAAGATCCCC	0.552000													18	68					0	0	0.004990	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740202	176740202	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:176740202C>A	ENST00000367662.3	+	17	5765	c.4601C>A	c.(4600-4602)gCc>gAc	p.A1534D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1534	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTCTGAATGCCAACTTGCTC	0.517000													39	61					6.97489e-18	9.53448e-18	0.021022	1	0
ABLIM1	3983	broad.mit.edu	37	10	116203885	116203885	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:116203885T>A	ENST00000369252.4	-	17	1957	c.1656A>T	c.(1654-1656)tcA>tcT	p.S552S	ABLIM1_ENST00000277895.5_Silent_p.S612S|ABLIM1_ENST00000392952.3_Silent_p.S289S|ABLIM1_ENST00000533213.2_Silent_p.S552S|ABLIM1_ENST00000369266.3_Silent_p.S289S|ABLIM1_ENST00000369253.2_Silent_p.S235S	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	612					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCCAGGCCTGAGTTAAGCT	0.418000													45	61					0	0	0.013114	0	0
BMS1	9790	broad.mit.edu	37	10	43294027	43294027	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:43294027G>T	ENST00000374518.4	+	12	2264	c.2201G>T	c.(2200-2202)tGc>tTc	p.C734F		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	734					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTTGGACTGCTCCAGATTT	0.438000													48	79					3.68337e-26	5.60023e-26	0.014410	1	0
SLC12A8	84561	broad.mit.edu	37	3	124909291	124909291	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:124909291C>A	ENST00000423114.2	-	3	212	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W42C|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W42C			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	42					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACACACCATCCCAGGTCCCAA	0.577000													80	85					1.58458e-29	2.4594e-29	0.014410	1	0
SLC22A12	116085	broad.mit.edu	37	11	64361120	64361120	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:64361120G>T	ENST00000377574.1	+	4	1422	c.675G>T	c.(673-675)acG>acT	p.T225T	SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Silent_p.T191T|SLC22A12_ENST00000473690.1_Silent_p.T4T	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	225					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGAGTGGACGGCGGCACGGG	0.652000													18	45					3.32936e-07	3.74598e-07	0.006122	1	0
PKMYT1	9088	broad.mit.edu	37	16	3024317	3024317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:3024317G>A	ENST00000431515.2	-	6	1466	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.Q361*|PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.Q361*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.Q352*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.Q292*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.Q352*			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	361					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCGCGGCTGCCTCAACACA	0.687000													9	6					0	0	0.006214	0	0
LPHN2	23266	broad.mit.edu	37	1	82409209	82409209	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:82409209C>T	ENST00000370728.1	+	8	1599	c.954C>T	c.(952-954)tgC>tgT	p.C318C	LPHN2_ENST00000319517.6_Silent_p.C318C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.C318C|LPHN2_ENST00000359929.3_Silent_p.C318C|LPHN2_ENST00000370713.1_Silent_p.C318C|LPHN2_ENST00000370717.2_Silent_p.C318C|LPHN2_ENST00000370730.1_Silent_p.C318C|LPHN2_ENST00000370723.1_Silent_p.C318C|LPHN2_ENST00000271029.4_Silent_p.C318C|LPHN2_ENST00000370725.1_Silent_p.C318C|LPHN2_ENST00000394879.1_Silent_p.C318C|LPHN2_ENST00000370715.1_Silent_p.C318C|LPHN2_ENST00000370721.1_Silent_p.C322C|LPHN2_ENST00000370727.1_Silent_p.C318C			O95490	LPHN2_HUMAN	latrophilin 2	318	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTATGATATGCGGAGTCCTCT	0.398000													59	48					0	0	0.014410	0	0
PXDN	7837	broad.mit.edu	37	2	1652105	1652105	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:1652105C>A	ENST00000252804.4	-	17	3497	c.3447G>T	c.(3445-3447)acG>acT	p.T1149T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1149					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T1149T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGAGCCACCGTGTGTGCCA	0.652000													38	38					1.06647e-15	1.41698e-15	0.017118	1	0
CDH10	1008	broad.mit.edu	37	5	24491783	24491783	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:24491783C>T	ENST00000264463.4	-	11	2285	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	593	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGCATGTTGCCTTGGCTGTC	0.537000										HNSCC(23;0.051)			38	61					0	0	0.019004	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131801	91131801	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:91131801G>A	ENST00000373094.1	+	2	1407	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCDH11X_ENST00000361724.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D188N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D188N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	188	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D188N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTTTGGCCTCGATGTCATTGA	0.303000													29	20					0	0	0.009718	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611533	44611533	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:44611533A>G	ENST00000273320.3	+	6	1360	c.931A>G	c.(931-933)Act>Gct	p.T311A	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.T311A|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GGCAGCAGAGACTGGAGATGT	0.438000													37	73					0	0	0.005524	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601751	234601751	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:234601751A>T	ENST00000305139.6	+	1	240	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTGGTCCCTCAGGACGGAAGC	0.493000													40	43					0	0	0.021022	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004960	153004960	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:153004960G>C	ENST00000307098.4	+	2	204	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	SPRR1B_ENST00000392661.3_Missense_Mutation_p.E47Q	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGGTGCCTGAGCCCTGCCA	0.632000													43	99					0	0	0.013114	0	0
FNBP4	23360	broad.mit.edu	37	11	47767896	47767896	+	Silent	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:47767896T>C	ENST00000263773.5	-	7	969	c.957A>G	c.(955-957)aaA>aaG	p.K319K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	319										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTGCCACCCCTTTCTTCTCCT	0.373000													36	16					0	0	0.005524	0	0
PTPN23	25930	broad.mit.edu	37	3	47449257	47449257	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:47449257C>T	ENST00000265562.4	+	13	1151	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	PTPN23_ENST00000431726.1_Silent_p.A232A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	358	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACATCTTTGCCAAACTGGTAC	0.612000													11	58					0	0	0.013537	0	0
LGI1	9211	broad.mit.edu	37	10	95557313	95557313	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:95557313C>G	ENST00000371418.4	+	8	1687	c.1427C>G	c.(1426-1428)tCc>tGc	p.S476C	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S428C	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	476					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCGCGAGGATCCATGGTGTTC	0.428000													30	48					0	0	0.006320	0	0
FBN2	2201	broad.mit.edu	37	5	127873104	127873104	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:127873104C>T	ENST00000508053.1	-	7	1167	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FBN2_ENST00000262464.4_Missense_Mutation_p.E65K|FBN2_ENST00000508989.1_Missense_Mutation_p.E65K			P35556	FBN2_HUMAN	fibrillin 2	65					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACCCTCCTCGCGATACTCG	0.721000													7	9					0	0	0.003080	0	0
FAM120B	84498	broad.mit.edu	37	6	170632311	170632311	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:170632311C>A	ENST00000476287.1	+	3	1987	c.1879C>A	c.(1879-1881)Cag>Aag	p.Q627K	FAM120B_ENST00000537664.1_Missense_Mutation_p.Q650K|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.Q639K	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	627					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TCCCATTCGACAGCGGGTCTA	0.493000													10	72					0.000978159	0.00102535	0.010729	1	0
LAMA2	3908	broad.mit.edu	37	6	129618930	129618930	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:129618930G>T	ENST00000421865.2	+	21	3006	c.2957G>T	c.(2956-2958)tGg>tTg	p.W986L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	986	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGACAATGTTGGTGCCAACCT	0.498000													14	22					2.32078e-09	2.72895e-09	0.003163	1	0
DCLK1	9201	broad.mit.edu	37	13	36367604	36367604	+	Missense_Mutation	SNP	G	G	A	rs146043148	by1000genomes	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:36367604G>A	ENST00000255448.4	-	16	2168	c.1957C>T	c.(1957-1959)Cca>Tca	p.P653S	DCLK1_ENST00000379893.1_Missense_Mutation_p.P346S|DCLK1_ENST00000360631.3_Missense_Mutation_p.P653S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	653					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCATTTTCTGGGAGGCCATCA	0.408000													42	86					0	0	0.014410	0	0
OTX1	5013	broad.mit.edu	37	2	63280223	63280223	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:63280223G>T	ENST00000366671.3	+	3	373		c.e3+1		OTX1_ENST00000282549.2_Splice_Site	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GGCTATCCGGGTGAGCACCAG	0.622000													45	51					3.05275e-18	4.22283e-18	0.013114	1	0
PRG4	10216	broad.mit.edu	37	1	186273948	186273948	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:186273948A>G	ENST00000445192.2	+	6	537	c.492A>G	c.(490-492)caA>caG	p.Q164Q	PRG4_ENST00000367483.4_Silent_p.Q123Q|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367484.3_Silent_p.Q123Q|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	164	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGAAAATCAAGAGtcctcct	0.358000													26	40					0	0	0.021523	0	0
AMER1	139285	broad.mit.edu	37	X	63412891	63412891	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:63412891C>A	ENST00000330258.3	-	2	548	c.276G>T	c.(274-276)aaG>aaT	p.K92N	AMER1_ENST00000374869.3_Missense_Mutation_p.K92N|AMER1_ENST00000403336.1_Missense_Mutation_p.K92N	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGGTCTTGCTCTTGCTGAGAC	0.542000													26	20					1.85244e-09	2.18316e-09	0.018920	1	0
COL3A1	1281	broad.mit.edu	37	2	189857637	189857637	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:189857637G>T	ENST00000304636.3	+	15	1191	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	COL3A1_ENST00000317840.5_Missense_Mutation_p.A341S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	341	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.A341S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGAACTGCCGGATTCCC	0.393000													30	45					2.47316e-13	3.16504e-13	0.015359	1	0
MYO5B	4645	broad.mit.edu	37	18	47432935	47432935	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:47432935C>A	ENST00000285039.7	-	19	2567	c.2268G>T	c.(2266-2268)ctG>ctT	p.L756L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	756	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGCTTCTCCAGGTAGGCCA	0.567000													17	14					3.32936e-07	3.74598e-07	0.006122	1	0
UNC79	57578	broad.mit.edu	37	14	94121584	94121584	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:94121584T>A	ENST00000553484.1	+	40	6624	c.6470T>A	c.(6469-6471)cTa>cAa	p.L2157Q	UNC79_ENST00000256339.4_Missense_Mutation_p.L1958Q|UNC79_ENST00000555664.1_Missense_Mutation_p.L2096Q|UNC79_ENST00000393151.2_Missense_Mutation_p.L2135Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2135						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						TTTTAGGGTCTAAATAACAAA	0.413000													36	40					0	0	0.017118	0	0
COL6A3	1293	broad.mit.edu	37	2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:238289831C>T	ENST00000295550.4	-	5	2076	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G135S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G336S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G336S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G341S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G336S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G542S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G135S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	542	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGTAGCCGGCTGAACTC	0.557000													25	89					0	0	0.021523	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798799	57798799	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:57798799T>A	ENST00000302622.3	+	1	398	c.375T>A	c.(373-375)gaT>gaA	p.D125E	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCCTATGATCGTTATGTGG	0.517000													41	92					0	0	0.006999	0	0
BRWD3	254065	broad.mit.edu	37	X	79937522	79937522	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:79937522C>A	ENST00000373275.4	-	39	4685	c.4469G>T	c.(4468-4470)aGg>aTg	p.R1490M	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1490										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGAGCTAGTCCTGGCATGAGA	0.383000													56	24					5.12918e-33	8.11795e-33	0.014410	1	0
IRS1	3667	broad.mit.edu	37	2	227660091	227660091	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:227660091C>A	ENST00000305123.4	-	1	4384	c.3364G>T	c.(3364-3366)Ggg>Tgg	p.G1122W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1122					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGCTGCCCCCGCTCCAAAG	0.642000													32	41					5.77227e-19	8.10293e-19	0.008361	1	0
IGSF3	3321	broad.mit.edu	37	1	117150881	117150881	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:117150881C>A	ENST00000369486.3	-	5	1670	c.905G>T	c.(904-906)tGc>tTc	p.C302F	IGSF3_ENST00000318837.6_Missense_Mutation_p.C302F|IGSF3_ENST00000369483.1_Missense_Mutation_p.C302F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	302	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCAGGATGCATCTGAACTC	0.552000													6	4					5.4927e-09	6.40815e-09	0.004482	1	0
SETD2	29072	broad.mit.edu	37	3	47164495	47164495	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:47164495G>A	ENST00000409792.3	-	3	1673	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTAGAATATGATGACCCTCG	0.353000			"""N, F, S, Mis"""		clear cell renal carcinoma								62	42					0	0	0.014410	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505056	70505056	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:70505056C>T	ENST00000457664.2	-	1	302	c.303G>A	c.(301-303)atG>atA	p.M101I	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.M302I	NM_001105677.2	NP_001099147.2																					CAATCCACAGCATTATCATAT	0.358000													19	75					0	0	0.007413	0	0
OR2L13	284521	broad.mit.edu	37	1	248263256	248263256	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248263256C>G	ENST00000366478.2	+	3	916	c.579C>G	c.(577-579)gtC>gtG	p.V193V	OR2L13_ENST00000358120.2_Silent_p.V193V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATACTTGGGTCTATGAATATA	0.438000													29	108					0	0	0.005443	0	0
GLB1L	79411	broad.mit.edu	37	2	220104940	220104940	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:220104940G>A	ENST00000295759.7	-	6	832	c.519C>T	c.(517-519)caC>caT	p.H173H	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Silent_p.H173H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	173					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCCCATTGTGATAAAGCC	0.512000													63	68					0	0	0.014410	0	0
SALL1	6299	broad.mit.edu	37	16	51172875	51172875	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:51172875C>A	ENST00000440970.1	-	2	3398	c.2967G>T	c.(2965-2967)aaG>aaT	p.K989N	SALL1_ENST00000251020.4_Missense_Mutation_p.K1086N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1086					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGACCTCTGTCTTGATGAGAG	0.567000													19	50					6.33239e-15	8.33924e-15	0.010504	1	0
PGM3	5238	broad.mit.edu	37	6	83898411	83898411	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:83898411C>G	ENST00000513973.1	-	3	427	c.311G>C	c.(310-312)aGa>aCa	p.R104T	PGM3_ENST00000512866.1_Missense_Mutation_p.R104T|PGM3_ENST00000506587.1_Missense_Mutation_p.R132T|PGM3_ENST00000283977.4_Missense_Mutation_p.R23T	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	104					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AATAAGCACTCTCTGCATATC	0.423000													8	64					0	0	0.003080	0	0
LAMA5	3911	broad.mit.edu	37	20	60927089	60927089	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:60927089G>A	ENST00000252999.3	-	5	800	c.734C>T	c.(733-735)tCc>tTc	p.S245F	LAMA5_ENST00000370677.3_Missense_Mutation_p.S245F|LAMA5_ENST00000370692.3_Missense_Mutation_p.S245F	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	245	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCGAGTAGGAGAAATTCAT	0.637000													9	6					0	0	0.004482	0	0
SELP	6403	broad.mit.edu	37	1	169564054	169564054	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:169564054C>G	ENST00000263686.6	-	13	2200	c.2163G>C	c.(2161-2163)tgG>tgC	p.W721C	SELP_ENST00000367788.2_Missense_Mutation_p.W659C|SELP_ENST00000367791.2_Missense_Mutation_p.W535C|SELP_ENST00000367794.2_Missense_Mutation_p.W659C|SELP_ENST00000458599.2_Missense_Mutation_p.W537C|SELP_ENST00000367786.2_Missense_Mutation_p.W659C|SELP_ENST00000367792.2_Missense_Mutation_p.W537C|SELP_ENST00000367793.2_Missense_Mutation_p.W659C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	721	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGAAGTTTCCCCAGAGGTTGG	0.433000													25	57					0	0	0.018920	0	0
TRIM44	54765	broad.mit.edu	37	11	35747673	35747673	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:35747673C>G	ENST00000299413.5	+	3	1256	c.949C>G	c.(949-951)Ctt>Gtt	p.L317V	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	317						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CAAGGAACAACTTGATACCTC	0.448000													22	12					0	0	0.014323	0	0
COBL	23242	broad.mit.edu	37	7	51096499	51096499	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:51096499C>A	ENST00000395542.2	-	12	2724	c.2540G>T	c.(2539-2541)gGg>gTg	p.G847V	COBL_ENST00000265136.7_Missense_Mutation_p.G765V			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	765										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTGACTTTCCCAATGGGCTG	0.582000													8	54					1.08611e-07	1.23669e-07	0.010729	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350711	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:50350711T>A	ENST00000376020.2	-	6	3456	c.3431A>T	c.(3430-3432)gAa>gTa	p.E1144V	SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1028V|SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1144V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1144	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttc	0.547000													6	3					0	0	0.001168	0	0
KLK6	5653	broad.mit.edu	37	19	51466679	51466679	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:51466679C>G	ENST00000376851.3	-	4	763	c.324G>C	c.(322-324)atG>atC	p.M108I	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_Start_Codon_SNP_p.M1I|KLK6_ENST00000456750.2_Start_Codon_SNP_p.M1I|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.M108I|KLK6_ENST00000310157.2_Missense_Mutation_p.M108I	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	108	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGCGCAACAGCATGATGTCCT	0.592000													50	10					0	0	0.014410	0	0
GABRA5	2558	broad.mit.edu	37	15	27128320	27128320	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:27128320C>G	ENST00000335625.5	+	5	1104	c.216C>G	c.(214-216)atC>atG	p.I72M	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.I72M|GABRA5_ENST00000400081.3_Missense_Mutation_p.I72M|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	72					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGAGCGCATCACTCAGGTGA	0.612000													5	33					0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	216595587	216595587	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:216595587G>C	ENST00000366943.2	-	2	478	c.92C>G	c.(91-93)aCt>aGt	p.T31S	USH2A_ENST00000307340.3_Missense_Mutation_p.T31S|USH2A_ENST00000366942.3_Missense_Mutation_p.T31S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	31					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTGACTCAGTCAAGGATAT	0.453000										HNSCC(13;0.011)			29	33					0	0	0.009535	0	0
ABCA4	24	broad.mit.edu	37	1	94471099	94471099	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:94471099G>T	ENST00000370225.3	-	44	6131	c.6045C>A	c.(6043-6045)ggC>ggA	p.G2015G	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.G134G|ABCA4_ENST00000536513.1_Silent_p.G285G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2015	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAGGACAGTAGCCCATATTTT	0.418000													32	34					6.00712e-18	8.26574e-18	0.012213	1	0
PPEF2	5470	broad.mit.edu	37	4	76782042	76782042	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:76782042G>C	ENST00000286719.7	-	17	2396	c.2040C>G	c.(2038-2040)acC>acG	p.T680T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	680	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGCTTCCAGGTCTGCCTGA	0.423000													42	60					0	0	0.014410	0	0
TRPC7	57113	broad.mit.edu	37	5	135567188	135567188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:135567188C>A	ENST00000513104.1	-	8	2176	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.E516*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.E571*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	632					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATTACTTCAGATAAGCCG	0.413000													4	13					0.014758	0.015076	0.014758	1	0
NLRP2	55655	broad.mit.edu	37	19	55481501	55481501	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:55481501C>A	ENST00000543010.1	+	2	261	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	NLRP2_ENST00000448584.2_Missense_Mutation_p.Q40K|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q40K|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q40K|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q40K|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q40K|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q40K|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q40K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	40	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACACGAGCTCCAGAAGATCCC	0.552000													18	67					3.41278e-10	4.08672e-10	0.004990	1	0
TM9SF4	9777	broad.mit.edu	37	20	30729627	30729627	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:30729627G>A	ENST00000217315.5	+	5	746	c.406G>A	c.(406-408)Gat>Aat	p.D136N	TM9SF4_ENST00000398022.2_Missense_Mutation_p.D153N			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	153						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGAGACAGCGATGACAAGAA	0.557000													75	120					0	0	0.014410	0	0
IMPG1	3617	broad.mit.edu	37	6	76734956	76734956	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:76734956C>G	ENST00000369963.3	-	4	472	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	IMPG1_ENST00000369950.3_Missense_Mutation_p.E173Q			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	173					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATGTCTTCTCTGCAGATATT	0.333000													16	44					0	0	0.008871	0	0
TFPI	7035	broad.mit.edu	37	2	188349672	188349672	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:188349672C>A	ENST00000233156.3	-	5	695	c.401G>T	c.(400-402)tGt>tTt	p.C134F	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.C134F|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.C134F|TFPI_ENST00000339091.4_Missense_Mutation_p.C134F	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	134	BPTI/Kunitz inhibitor 2.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATAACCTCGACATATTCCAGG	0.318000													14	24					1.05317e-09	1.24825e-09	0.020292	1	0
RNF207	388591	broad.mit.edu	37	1	6267532	6267532	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:6267532G>C	ENST00000377939.4	+	3	412	c.285G>C	c.(283-285)gcG>gcC	p.A95A	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	95						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)		GCGTGGAGGCGGTGCGCTGTG	0.687000													11	0					0	0	0.008291	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99019332	99019332	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:99019332G>A	ENST00000453547.2	-	5	666	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R223W|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R214W|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R223W|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R223W|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R214W																							TCAATTTGCCGGTCCTTGTCT	0.408000													45	102					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237947029	237947029	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:237947029C>G	ENST00000366574.2	+	90	12334	c.12017C>G	c.(12016-12018)tCt>tGt	p.S4006C	RYR2_ENST00000360064.6_Missense_Mutation_p.S4012C|RYR2_ENST00000542537.1_Missense_Mutation_p.S3990C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4006					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGTGGAATCTTCCAACAAC	0.358000													5	16					0	0	0.001168	0	0
ADH1B	125	broad.mit.edu	37	4	100232027	100232027	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:100232027A>G	ENST00000305046.8	-	8	1065	c.998T>C	c.(997-999)gTg>gCg	p.V333A	ADH1B_ENST00000394887.3_Missense_Mutation_p.V293A			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	333					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCAGCCACAAGTTTTGG	0.363000													27	104					0	0	0.005443	0	0
FBXO4	26272	broad.mit.edu	37	5	41929992	41929992	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:41929992G>T	ENST00000296812.2	+	3	675	c.619G>T	c.(619-621)Gct>Tct	p.A207S	FBXO4_ENST00000509134.1_Missense_Mutation_p.A207S|FBXO4_ENST00000281623.3_Missense_Mutation_p.A207S	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	207					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTGCCCAACAGCTGGTTTGCC	0.378000													59	103					4.09106e-26	6.20201e-26	0.014410	1	0
IFT172	26160	broad.mit.edu	37	2	27670717	27670717	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:27670717G>A	ENST00000260570.3	-	41	4604	c.4501C>T	c.(4501-4503)Cat>Tat	p.H1501Y		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1501					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCCAGCTATGATAGGCCTCG	0.493000													50	75					0	0	0.014410	0	0
OR56B4	196335	broad.mit.edu	37	11	6129885	6129885	+	Missense_Mutation	SNP	C	C	A	rs142740775		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:6129885C>A	ENST00000316529.3	+	1	972	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACTCAACCCCCTGGCCTG	0.502000													5	73					1.23904e-05	1.35321e-05	0.014758	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74664011	74664011	+	Missense_Mutation	SNP	C	C	A	rs147701183	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:74664011C>A	ENST00000370895.1	+	1	84	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	FPGT_ENST00000534056.1_Missense_Mutation_p.Q17K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.Q17K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.Q17K|FPGT_ENST00000524915.1_Missense_Mutation_p.Q17K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.Q17K|FPGT_ENST00000467578.2_Missense_Mutation_p.Q17K|FPGT_ENST00000370898.2_Missense_Mutation_p.Q17K|FPGT_ENST00000482102.2_Missense_Mutation_p.Q17K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q17K|FPGT_ENST00000370894.4_Missense_Mutation_p.Q17K			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGAAGCCACCCAGCGAAAATT	0.622000													8	32					0.00448238	0.00463342	0.004482	1	0
IL36A	27179	broad.mit.edu	37	2	113765460	113765460	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:113765460C>A	ENST00000259211.6	+	4	727	c.316C>A	c.(316-318)Ctc>Atc	p.L106I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	106					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAAGTCCTTTCTCTTCTACCA	0.498000													76	92					1.86864e-30	2.9133e-30	0.014410	1	0
GBP4	115361	broad.mit.edu	37	1	89658687	89658687	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:89658687G>T	ENST00000355754.6	-	5	667	c.570C>A	c.(568-570)gaC>gaA	p.D190E		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	190						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCAAATAAAGTCTGGAAAGA	0.483000													19	88					8.00594e-06	8.81752e-06	0.007413	1	0
BAI3	577	broad.mit.edu	37	6	70071174	70071174	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:70071174C>G	ENST00000370598.1	+	29	4830	c.4009C>G	c.(4009-4011)Cat>Gat	p.H1337D	BAI3_ENST00000546190.1_Missense_Mutation_p.H301D|BAI3_ENST00000238918.8_Missense_Mutation_p.H543D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1337					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)				AACCTTGCCGCATGAAAGGCT	0.403000													15	64					0	0	0.020292	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310177	25310177	+	RNA	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:25310177C>G	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							GTGGTTGGATCGATGATGAGT	0.473000													46	55					0	0	0.010771	0	0
PDE6B	5158	broad.mit.edu	37	4	619521	619521	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:619521T>A	ENST00000255622.6	+	1	149	c.106T>A	c.(106-108)Tgc>Agc	p.C36S	PDE6B_ENST00000496514.1_Missense_Mutation_p.C36S	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	36					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGCCGCGGCCTGCGAGGACGG	0.652000													27	40					0	0	0.006320	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408889	11408889	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:11408889C>T	ENST00000316737.1	+	2	291	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TSPAN16_ENST00000590327.1_Silent_p.L47L|TSPAN16_ENST00000592955.1_Silent_p.L47L	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	47						integral to membrane		p.L47L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CGAATGTCCTCGGGCTGTCCT	0.547000													25	14					0	0	0.018920	0	0
RAET1K	646024	broad.mit.edu	37	6	150322312	150322312	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:150322312C>A	ENST00000533735.1	-	0	564					NR_024045.1																						AATCCTGAGCCCCACCCTGCT	0.527000													14	16					6.72482e-11	8.1653e-11	0.003163	1	0
PRKCB	5579	broad.mit.edu	37	16	24231290	24231290	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:24231290G>C	ENST00000321728.7	+	17	2047	c.1872G>C	c.(1870-1872)aaG>aaC	p.K624N	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	624	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGAGAGACAAGAGAGACACCT	0.448000													11	25					0	0	0.013537	0	0
UNC79	57578	broad.mit.edu	37	14	94007065	94007065	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:94007065G>T	ENST00000553484.1	+	13	1566	c.1412G>T	c.(1411-1413)cGg>cTg	p.R471L	UNC79_ENST00000256339.4_Missense_Mutation_p.R294L|UNC79_ENST00000555664.1_Missense_Mutation_p.R471L|UNC79_ENST00000393151.2_Missense_Mutation_p.R471L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	471						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						AACCGGCGGCGGCAGCTGGGC	0.498000													20	63					7.45023e-12	9.29496e-12	0.010504	1	0
PARD3B	117583	broad.mit.edu	37	2	205989158	205989158	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:205989158G>T	ENST00000406610.2	+	9	1480	c.1273G>T	c.(1273-1275)Ggc>Tgc	p.G425C	PARD3B_ENST00000462231.1_Missense_Mutation_p.G425C|PARD3B_ENST00000358768.2_Missense_Mutation_p.G425C|PARD3B_ENST00000351153.1_Missense_Mutation_p.G425C|PARD3B_ENST00000349953.3_Missense_Mutation_p.G425C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	425	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATAAAAGATGGCCGCCTACA	0.373000													23	52					3.5997e-14	4.67557e-14	0.014323	1	0
OR51D1	390038	broad.mit.edu	37	11	4661787	4661787	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:4661787C>A	ENST00000357605.2	+	1	843	c.767C>A	c.(766-768)tCc>tAc	p.S256Y		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGCATCTCCCACCTCTGT	0.547000													54	28					3.76525e-18	5.20153e-18	0.014410	1	0
GABPB2	126626	broad.mit.edu	37	1	151076126	151076126	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:151076126C>T	ENST00000368918.3	+	6	1042	c.711C>T	c.(709-711)ccC>ccT	p.P237P	GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	237					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CATCAGTCCCCCTCTCCAACT	0.468000													21	46					0	0	0.016522	0	0
IGFL2	147920	broad.mit.edu	37	19	46664053	46664053	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:46664053C>T	ENST00000434646.2	+	4	580	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	IGFL2_ENST00000377693.4_Missense_Mutation_p.L86F|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	86						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TTCCTTTGGCCTCACAAACGA	0.537000													165	105					0	0	0.014410	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577123	158577123	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:158577123A>G	ENST00000361284.1	+	1	895	c.895A>G	c.(895-897)Aca>Gca	p.T299A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGCTATACAGACAGCTCTGAG	0.453000													82	163					0	0	0.014410	0	0
KCNH3	23416	broad.mit.edu	37	12	49935463	49935463	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:49935463G>A	ENST00000257981.6	+	3	621	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	121	PAC.				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						GAATGAGAAAGGGGAGGTGGC	0.537000													129	141					0	0	0.014410	0	0
KCNU1	157855	broad.mit.edu	37	8	36793247	36793247	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:36793247T>A	ENST00000399881.3	+	27	3296	c.3259T>A	c.(3259-3261)Tca>Aca	p.S1087T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1087						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACATTGTATTCACCAGTCTA	0.368000													31	89					0	0	0.008361	0	0
MC3R	4159	broad.mit.edu	37	20	54824346	54824346	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:54824346G>T	ENST00000243911.2	+	1	559	c.447G>T	c.(445-447)gcG>gcT	p.A149A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTTTTACGCGCTCCGCTACC	0.582000													51	30					7.05377e-20	1.0092e-19	0.014410	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92690297	92690297	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:92690297C>T	ENST00000318445.6	+	8	1810	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	SLCO3A1_ENST00000424469.2_Silent_p.C532C|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	532					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTCCTGGGTGCCAAGAGGCCT	0.572000													20	74					0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126411339	126411339	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:126411339A>G	ENST00000394329.3	+	17	13375	c.13362A>G	c.(13360-13362)ccA>ccG	p.P4454P	FAT4_ENST00000335110.5_Silent_p.P2695P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4454	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTAGCTGCCCAGACTCGCACA	0.637000													33	12					0	0	0.010818	0	0
AKAP1	8165	broad.mit.edu	37	17	55191939	55191939	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:55191939G>T	ENST00000337714.3	+	6	2456	c.2223G>T	c.(2221-2223)caG>caT	p.Q741H	AKAP1_ENST00000539273.1_Missense_Mutation_p.Q741H|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q741H|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q741H	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	741					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCCTCGACCAGCAGATGTACC	0.622000											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0.000274275	0.000289837	0.004482	1	0
DEPTOR	64798	broad.mit.edu	37	8	121013906	121013906	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:121013906G>T	ENST00000286234.5	+	5	877	c.747G>T	c.(745-747)agG>agT	p.R249S	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.R148S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	249	Ser-rich.			R -> G (in Ref. 1; CAB66613).	intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TCTGCCTGAGGAAGCAGAGCC	0.488000													31	13					2.49534e-26	3.80504e-26	0.010818	1	0
CRB1	23418	broad.mit.edu	37	1	197404110	197404110	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:197404110T>A	ENST00000367397.1	+	5	2118	c.1260T>A	c.(1258-1260)ctT>ctA	p.L420L	CRB1_ENST00000535699.1_Silent_p.L1015L|CRB1_ENST00000367400.3_Silent_p.L1039L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.L927L|CRB1_ENST00000544212.1_Silent_p.L520L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1039	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGTGACCCTTTCCATGACAG	0.463000													38	63					0	0	0.006999	0	0
FAM194A	131831	broad.mit.edu	37	3	150377692	150377692	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:150377692T>C	ENST00000295910.6	-	14	2031	c.1979A>G	c.(1978-1980)aAt>aGt	p.N660S	FAM194A_ENST00000491361.1_Missense_Mutation_p.N514S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	660										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AATTTCTTCATTTATTATATT	0.318000													7	25					0	0	0.003080	0	0
MMRN2	79812	broad.mit.edu	37	10	88703595	88703595	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:88703595G>T	ENST00000372027.4	-	6	1019	c.946C>A	c.(946-948)Cac>Aac	p.H316N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	316						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGCTGGGCGTGCAGGCGGTCC	0.602000													45	46					2.00842e-17	2.7205e-17	0.010771	1	0
ADH6	130	broad.mit.edu	37	4	100137346	100137346	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:100137346G>T	ENST00000394897.1	-	2	174	c.92C>A	c.(91-93)cCa>cAa	p.P31Q	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.P31Q|ADH6_ENST00000237653.7_Missense_Mutation_p.P31Q|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	31					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TGCCTTTGGTGGGGCCACTTC	0.398000													27	33					7.41945e-09	8.61747e-09	0.005443	1	0
DRP2	1821	broad.mit.edu	37	X	100510193	100510193	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:100510193A>G	ENST00000395209.3	+	20	2728	c.2201A>G	c.(2200-2202)cAa>cGa	p.Q734R	DRP2_ENST00000402866.1_Missense_Mutation_p.Q734R|DRP2_ENST00000541709.1_Missense_Mutation_p.Q656R|DRP2_ENST00000538510.1_Missense_Mutation_p.Q734R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	734					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						ATGGAAAGTCAAAATTGCTCC	0.453000													69	45					0	0	0.014410	0	0
NLGN3	54413	broad.mit.edu	37	X	70387434	70387434	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:70387434G>A	ENST00000374051.3	+	6	1749	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	NLGN3_ENST00000536169.1_Missense_Mutation_p.R456H|NLGN3_ENST00000358741.3_Missense_Mutation_p.R496H|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	496					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTGCATGCCCGCTACGGCTCG	0.572000													28	19					0	0	0.005524	0	0
FANCM	57697	broad.mit.edu	37	14	45628364	45628364	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:45628364A>T	ENST00000267430.5	+	9	1547	c.1462A>T	c.(1462-1464)Agt>Tgt	p.S488C	FANCM_ENST00000542564.2_Missense_Mutation_p.S462C|FANCM_ENST00000556036.1_Missense_Mutation_p.S488C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	488	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATTTCGAGATAGTGTTCAAGA	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	10					0	0	0.003163	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531351	190531351	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:190531351G>T	ENST00000260952.4	+	4	906	c.493G>T	c.(493-495)Gga>Tga	p.G165*	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	165	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CCAAACATCTGGATTGGCAAA	0.418000													40	112					2.68985e-26	4.09564e-26	0.014410	1	0
HCN1	348980	broad.mit.edu	37	5	45262169	45262169	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:45262169G>T	ENST00000303230.4	-	8	2584	c.2527C>A	c.(2527-2529)Cga>Aga	p.R843R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	843						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GACATCTGTCGGAAGAGGGTG	0.652000													42	62					5.44703e-19	7.65667e-19	0.009718	1	0
RNASE11	122651	broad.mit.edu	37	14	21052127	21052127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:21052127G>T	ENST00000335950.4	-	3	969	c.507C>A	c.(505-507)tgC>tgA	p.C169*	RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C169*|RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C169*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	169						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TATGGTATTGGCACCTGGGGA	0.448000													23	10					1.22574e-08	1.42049e-08	0.014323	1	0
PRKG1	5592	broad.mit.edu	37	10	52913063	52913063	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:52913063G>T	ENST00000373980.4	+	2	868	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	PRKG1_ENST00000373985.1_Missense_Mutation_p.V124L|PRKG1_ENST00000401604.2_Missense_Mutation_p.V136L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	136					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAAGGAGACGTGGGGTCACT	0.448000													33	42					3.86903e-22	5.65182e-22	0.013726	1	0
DMBT1	1755	broad.mit.edu	37	10	124358301	124358301	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:124358301A>T	ENST00000368909.3	+	26	3074	c.2968A>T	c.(2968-2970)Agt>Tgt	p.S990C	DMBT1_ENST00000344338.3_Missense_Mutation_p.S980C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S491C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S980C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.S990C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S491C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	990					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCTGAATCCAGTTTGGCCCT	0.537000													158	257					0	0	0.014410	0	0
FERMT3	83706	broad.mit.edu	37	11	63978898	63978898	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:63978898G>C	ENST00000279227.5	+	5	761	c.666G>C	c.(664-666)aaG>aaC	p.K222N	FERMT3_ENST00000345728.5_Missense_Mutation_p.K222N	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	222					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TGTCAGACAAGACCCAGCTCC	0.701000													5	14					0	0	0.001168	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873742	24873742	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:24873742C>A	ENST00000396432.2	-	26	5962	c.5476G>T	c.(5476-5478)Ggg>Tgg	p.G1826W		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1825	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTCTCTCCCCGCTCTGCTCA	0.498000													11	39					6.40141e-05	6.8549e-05	0.010729	1	0
CSMD3	114788	broad.mit.edu	37	8	113484912	113484912	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:113484912C>A	ENST00000297405.5	-	32	5547	c.5303G>T	c.(5302-5304)gGt>gTt	p.G1768V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1664V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1768V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1728V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1768	CUB 10.					integral to membrane|plasma membrane		p.G1728V(1)|p.G1768V(1)		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						GCCTTCTGAACCTGTTGAACG	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	20					1.32136e-16	1.77371e-16	0.008740	1	0
GTF3C1	2975	broad.mit.edu	37	16	27549128	27549128	+	Silent	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:27549128T>C	ENST00000356183.4	-	4	744	c.729A>G	c.(727-729)ctA>ctG	p.L243L	GTF3C1_ENST00000561623.1_Silent_p.L243L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	243						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCGGTTCAGTAGGAGGAGGA	0.423000													37	59					0	0	0.008740	0	0
OGDH	4967	broad.mit.edu	37	7	44746964	44746964	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:44746964G>A	ENST00000222673.5	+	21	2815	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	OGDH_ENST00000543843.1_Missense_Mutation_p.V876M|OGDH_ENST00000444676.1_Missense_Mutation_p.V940M|OGDH_ENST00000449767.1_Missense_Mutation_p.V921M|OGDH_ENST00000439616.2_Missense_Mutation_p.V775M|OGDH_ENST00000447398.1_Missense_Mutation_p.V936M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	925					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGTGGGGCAGGTGGCCATCAC	0.587000													36	45					0	0	0.005524	0	0
IL6R	3570	broad.mit.edu	37	1	154401818	154401818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:154401818G>T	ENST00000368485.3	+	2	669	c.232G>T	c.(232-234)Gga>Tga	p.G78*	IL6R_ENST00000344086.4_Nonsense_Mutation_p.G78*	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	78	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTGGCATGGGAAGGAGGCT	0.642000													11	40					3.86212e-05	4.15706e-05	0.008291	1	0
GPR98	84059	broad.mit.edu	37	5	89981693	89981693	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:89981693C>A	ENST00000405460.2	+	29	6467	c.6371C>A	c.(6370-6372)gCa>gAa	p.A2124E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2124					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCTCTCAGCACCAATTGTC	0.428000													9	10					2.74318e-10	3.28866e-10	0.006214	1	0
TNR	7143	broad.mit.edu	37	1	175372391	175372391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:175372391G>T	ENST00000367674.1	-	4	1569	c.861C>A	c.(859-861)taC>taA	p.Y287*	TNR_ENST00000263525.2_Nonsense_Mutation_p.Y287*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	287	Cys-rich.|EGF-like 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCACCAACGTAGCCCTCCT	0.627000													14	38					0.000308642	0.000325823	0.003163	1	0
MFGE8	4240	broad.mit.edu	37	15	89442734	89442734	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:89442734G>T	ENST00000539437.1	-	9	1168	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	MFGE8_ENST00000566497.1_Silent_p.S352S|MFGE8_ENST00000542878.1_Silent_p.S308S|MFGE8_ENST00000268151.7_Silent_p.S300S|MFGE8_ENST00000268150.8_Silent_p.S352S			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	352	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TCTTCTTGTGGGAGTGGTTGT	0.642000													78	134					1.38806e-43	2.27276e-43	0.014410	1	0
PKHD1	5314	broad.mit.edu	37	6	51889828	51889828	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:51889828C>T	ENST00000371117.3	-	32	5055	c.4780G>A	c.(4780-4782)Gag>Aag	p.E1594K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1594K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1594	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGTGCCCTCTATGGTCAAG	0.473000													29	109					0	0	0.006320	0	0
CD34	947	broad.mit.edu	37	1	208062847	208062847	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:208062847C>A	ENST00000356522.4	-	5	1038	c.717G>T	c.(715-717)agG>agT	p.R239S	CD34_ENST00000310833.7_Missense_Mutation_p.R239S|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R104S|CD34_ENST00000367036.3_Missense_Mutation_p.R81S	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	239					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GACACTGAGGCCTCACCTCAG	0.622000													16	13					6.31663e-08	7.23188e-08	0.003163	1	0
OR56A4	120793	broad.mit.edu	37	11	6023879	6023879	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:6023879G>T	ENST00000330728.4	-	1	545	c.500C>A	c.(499-501)tCc>tAc	p.S167Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACGTGCAGGACTCCATGGT	0.522000													21	9					2.39187e-15	3.16589e-15	0.008871	1	0
TMC4	147798	broad.mit.edu	37	19	54673393	54673393	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:54673393C>T	ENST00000376591.4	-	3	448	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R100K	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	106						integral to membrane		p.R100I(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGCATTTCTTTGCCTGGG	0.527000													62	38					0	0	0.014410	0	0
OR52I2	143502	broad.mit.edu	37	11	4608445	4608445	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:4608445C>A	ENST00000312614.4	+	1	425	c.403C>A	c.(403-405)Cac>Aac	p.H135N		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTTTTGTCCACTTAGCCAC	0.507000													37	30					1.04352e-10	1.25825e-10	0.017118	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28734129	28734129	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:28734129C>A	ENST00000550043.1	+	0	534																											TCAAGTCGGCCGGAAAATATT	0.478000													21	16					9.95505e-16	1.32438e-15	0.014323	1	0
DEPDC1B	55789	broad.mit.edu	37	5	59899305	59899305	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:59899305C>T	ENST00000265036.5	-	9	1222	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	DEPDC1B_ENST00000453022.2_Silent_p.L385L|DEPDC1B_ENST00000545085.1_Silent_p.L358L	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	385	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AATTGTCCATCAGAAACGTTA	0.438000													17	38					0	0	0.004007	0	0
OR4E2	26686	broad.mit.edu	37	14	22133673	22133673	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:22133673T>C	ENST00000408935.1	+	1	377	c.377T>C	c.(376-378)aTc>aCc	p.I126T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TACGTGGCTATCTGCACTCCA	0.488000													99	42					0	0	0.014410	0	0
ITGB4	3691	broad.mit.edu	37	17	73750667	73750667	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:73750667G>A	ENST00000200181.3	+	34	4516	c.4329G>A	c.(4327-4329)gtG>gtA	p.V1443V	ITGB4_ENST00000450894.3_Silent_p.V1373V|ITGB4_ENST00000449880.2_Silent_p.V1373V|ITGB4_ENST00000339591.3_Silent_p.V1373V|ITGB4_ENST00000579662.1_Silent_p.V1373V|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1443					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCACCTGGTGAATGGCCGGA	0.677000													10	51					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237659932	237659932	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:237659932G>T	ENST00000366574.2	+	20	2400	c.2083G>T	c.(2083-2085)Gtg>Ttg	p.V695L	RYR2_ENST00000360064.6_Missense_Mutation_p.V693L|RYR2_ENST00000542537.1_Missense_Mutation_p.V679L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	695	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCACCTGCGAGTGGGCTGGGC	0.512000													23	43					4.16121e-05	4.47437e-05	0.016522	1	0
ADCY4	196883	broad.mit.edu	37	14	24801054	24801054	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:24801054G>A	ENST00000310677.4	-	5	722	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.F203F|ADCY4_ENST00000554068.2_Silent_p.F203F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	203					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCCTCCCGGAACGTGGCCC	0.662000													18	7					0	0	0.010504	0	0
MALAT1	378938	broad.mit.edu	37	11	65265501	65265501	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:65265501G>A	ENST00000534336.1	+	0	269				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						GGGTTTGGAGGAAAGCTTTTA	0.433000													41	60					0	0	0.006999	0	0
RYR2	6262	broad.mit.edu	37	1	237796962	237796962	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:237796962A>G	ENST00000366574.2	+	43	6957	c.6640A>G	c.(6640-6642)Atg>Gtg	p.M2214V	RYR2_ENST00000360064.6_Missense_Mutation_p.M2212V|RYR2_ENST00000542537.1_Missense_Mutation_p.M2198V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2214	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAAAAAGCTATGTTTGATCA	0.348000													31	58					0	0	0.008361	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845875	130845875	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:130845875C>T	ENST00000245255.3	+	15	2088	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	606	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AAAGATTGCCCTACAGATGAA	0.458000													10	49					0	0	0.010729	0	0
OTOP3	347741	broad.mit.edu	37	17	72943272	72943272	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:72943272G>T	ENST00000328801.4	+	6	1322	c.1322G>T	c.(1321-1323)cGc>cTc	p.R441L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	441						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GTGGCCAAGCGCCCGCATGAG	0.607000													48	15					6.08268e-21	8.77488e-21	0.014410	1	0
MDN1	23195	broad.mit.edu	37	6	90405582	90405582	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:90405582C>A	ENST00000369393.3	-	61	9628	c.9513G>T	c.(9511-9513)caG>caT	p.Q3171H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q3171H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3171					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)		GCTGGAAGGCCTGGCTGCTCC	0.627000													19	41					6.94344e-10	8.29555e-10	0.006122	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754224	140754224	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140754224C>A	ENST00000517434.1	+	1	574	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGTACCCGGAGCTGGT	0.582000													8	4					6.5536e-12	8.20577e-12	0.003080	1	0
SYNE1	23345	broad.mit.edu	37	6	152497696	152497696	+	Splice_Site	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:152497696C>G	ENST00000367255.5	-	130	24062		c.e130-1		SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		CTTGATAATCCTGTGTAATAA	0.398000										HNSCC(10;0.0054)			49	48					0	0	0.014410	0	0
SLC35A5	55032	broad.mit.edu	37	3	112288109	112288109	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:112288109A>T	ENST00000492406.1	+	3	505	c.222A>T	c.(220-222)atA>atT	p.I74I	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	74						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCTGTGTTATAAAGAAAGGTA	0.338000													5	91					0	0	0.014758	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684847	44684847	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:44684847C>T	ENST00000454036.1	+	22	2991	c.2915C>T	c.(2914-2916)aCg>aTg	p.T972M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.T949M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	972					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGCCAACACGCGGCTCCGC	0.577000													19	10					0	0	0.010504	0	0
KCNA5	3741	broad.mit.edu	37	12	5154900	5154900	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:5154900C>A	ENST00000252321.3	+	1	1816	c.1587C>A	c.(1585-1587)caC>caA	p.H529Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	529						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AAACGGATCACGAGGAGCCGG	0.637000													14	37					9.31168e-06	1.02232e-05	0.016723	1	0
USP29	57663	broad.mit.edu	37	19	57642177	57642177	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:57642177A>G	ENST00000254181.4	+	4	2588	c.2134A>G	c.(2134-2136)Acc>Gcc	p.T712A	USP29_ENST00000598197.1_Missense_Mutation_p.T712A	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	712					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTGAGTCCACCAATGGCTT	0.423000													57	47					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78415551	78415551	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:78415551C>T	ENST00000397909.2	+	9	2105	c.1932C>T	c.(1930-1932)acC>acT	p.T644T	NAV3_ENST00000228327.6_Silent_p.T644T|NAV3_ENST00000266692.7_Silent_p.T644T|NAV3_ENST00000536525.2_Silent_p.T644T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	644						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T644T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGAAGGTACCGCTTTACCAT	0.408000										HNSCC(70;0.22)			35	46					0	0	0.006230	0	0
CD1E	913	broad.mit.edu	37	1	158325898	158325898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:158325898G>T	ENST00000434258.1	+	4	912	c.901G>T	c.(901-903)Gag>Tag	p.E301*	CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron			P15812	CD1E_HUMAN	CD1e molecule	0	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCATTGGGGTGAGAAACAGCT	0.552000													10	47					7.48243e-07	8.39158e-07	0.006214	1	0
PHB2	11331	broad.mit.edu	37	12	7079435	7079435	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:7079435C>T	ENST00000535923.1	-	2	417	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	PHB2_ENST00000440277.1_Missense_Mutation_p.G46R|PHB2_ENST00000546111.1_Missense_Mutation_p.G46R|PHB2_ENST00000399433.2_Missense_Mutation_p.G46R|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Missense_Mutation_p.G46R	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	46	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GCTCTGTGCCCGCCTTCCACT	0.632000													44	118					0	0	0.014410	0	0
LILRA2	11027	broad.mit.edu	37	19	55085923	55085923	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:55085923C>A	ENST00000251377.3	+	4	359	c.226C>A	c.(226-228)Cct>Act	p.P76T	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.P64T|LILRA2_ENST00000251376.3_Missense_Mutation_p.P76T|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P76T|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GATACAAGAGCCTGGGAAGAA	0.522000													12	78					9.31168e-06	1.02232e-05	0.016723	1	0
TRIM68	55128	broad.mit.edu	37	11	4626536	4626536	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:4626536T>A	ENST00000300747.5	-	2	488	c.199A>T	c.(199-201)Agg>Tgg	p.R67W		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	67					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGCAGGTTCCTTGGCTGGACA	0.567000													52	27					0	0	0.014410	0	0
MYBL1	4603	broad.mit.edu	37	8	67492438	67492438	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:67492438T>C	ENST00000522677.3	-	9	1441	c.1031A>G	c.(1030-1032)gAg>gGg	p.E344G	MYBL1_ENST00000524176.2_Missense_Mutation_p.E344G|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	344	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGCGTTTGCCTCCACGGCCAG	0.413000													15	16					0	0	0.003163	0	0
CECR2	27443	broad.mit.edu	37	22	18029082	18029082	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:18029082G>T	ENST00000262608.8	+	16	4042	c.4042G>T	c.(4042-4044)Gcc>Tcc	p.A1348S	CECR2_ENST00000400573.4_Missense_Mutation_p.A1347S|CECR2_ENST00000400585.2_Missense_Mutation_p.A1205S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1389					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGTGGCTGCCCTCCCACC	0.637000													13	7					5.50884e-06	6.08012e-06	0.013537	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390955	8390955	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:8390955C>A	ENST00000471889.1	+	5	1787	c.1402C>A	c.(1402-1404)Ccc>Acc	p.P468T	SLC45A1_ENST00000289877.8_Missense_Mutation_p.P468T|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.P502T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	468					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGGGGGTCCCGAAACCAG	0.607000													52	32					6.56871e-35	1.04439e-34	0.014410	1	0
OR51V1	283111	broad.mit.edu	37	11	5221843	5221843	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5221843C>T	ENST00000321255.1	-	1	87	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGCTGCTCCATGCCAGAA	0.458000													24	44					0	0	0.016522	0	0
CPNE5	57699	broad.mit.edu	37	6	36742827	36742827	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:36742827G>C	ENST00000244751.2	-	10	1272	c.648C>G	c.(646-648)caC>caG	p.H216Q		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	216	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCGGTCTTGTGGCAAATGG	0.532000													31	13					0	0	0.009535	0	0
LVRN	206338	broad.mit.edu	37	5	115336320	115336320	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:115336320G>T	ENST00000357872.4	+	9	1736	c.1612G>T	c.(1612-1614)Gct>Tct	p.A538S	AQPEP_ENST00000395528.2_Missense_Mutation_p.A55S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		538					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTACTCAAACGCTGAGCAAGA	0.348000													20	10					1.9806e-07	2.2454e-07	0.014323	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120312488	120312488	+	Silent	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:120312488T>C	ENST00000397843.2	+	14	1331	c.1165T>C	c.(1165-1167)Tta>Cta	p.L389L	ARHGEF12_ENST00000532993.1_Silent_p.L286L|ARHGEF12_ENST00000356641.3_Silent_p.L370L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	389	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGCTGTTTTCTTACACCATGT	0.388000			T	MLL	AML								69	90					0	0	0.014410	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505055	70505055	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:70505055G>T	ENST00000457664.2	-	1	303	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L303M	NM_001105677.2	NP_001099147.2																					TCAATCCACAGCATTATCATA	0.363000													19	75					5.03518e-11	6.128e-11	0.007413	1	0
APMAP	57136	broad.mit.edu	37	20	24949666	24949666	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:24949666C>G	ENST00000217456.2	-	8	1193	c.903G>C	c.(901-903)atG>atC	p.M301I	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		GAAATCCAGGCATGTTCTCCA	0.537000													34	18					0	0	0.015359	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440268	49440268	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:49440268T>A	ENST00000374201.3	-	10	1360	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L	FRMPD2_ENST00000407470.4_Missense_Mutation_p.H322L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.H329L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	353	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCTCCAGGTGCTGCCCGTT	0.463000													22	40					0	0	0.016522	0	0
PTPN1	5770	broad.mit.edu	37	20	49196459	49196459	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:49196459G>A	ENST00000371621.3	+	8	1258	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PTPN1_ENST00000541713.1_Missense_Mutation_p.E289K	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	362					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTACGGCATCGAAAGGTAATA	0.512000											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	27					0	0	0.004007	0	0
ELMO3	79767	broad.mit.edu	37	16	67235956	67235956	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:67235956G>A	ENST00000393997.2	+	12	1343	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K	ELMO3_ENST00000360833.1_Missense_Mutation_p.R412K|ELMO3_ENST00000477898.1_Missense_Mutation_p.R263K	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	376	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TACTTCTCCAGAAACGCGCCC	0.657000													28	92					0	0	0.004656	0	0
FLG2	388698	broad.mit.edu	37	1	152326480	152326480	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:152326480C>A	ENST00000388718.5	-	3	3854	c.3782G>T	c.(3781-3783)gGg>gTg	p.G1261V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1261	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACCCTGGACCCTGTCTGTGT	0.458000													70	160					2.36135e-34	3.743e-34	0.014410	1	0
OR52N5	390075	broad.mit.edu	37	11	5799723	5799723	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5799723C>A	ENST00000317093.2	-	1	174	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGATTCCCCACAAGGAAGATG	0.423000													27	72					1.75199e-13	2.24487e-13	0.007291	1	0
SLC5A12	159963	broad.mit.edu	37	11	26725153	26725153	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:26725153C>A	ENST00000396005.3	-	6	1055	c.746G>T	c.(745-747)tGg>tTg	p.W249L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.W249L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	249					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GATTCCGAGCCAAGTAAAAGT	0.398000													7	90					8.12818e-05	8.6684e-05	0.001984	1	0
PRB2	653247	broad.mit.edu	37	12	11546891	11546891	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:11546891G>T	ENST00000389362.4	-	3	156	c.121C>A	c.(121-123)Cca>Aca	p.P41T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGCTCCT	0.507000													114	96					2.00748e-32	3.16763e-32	0.014410	1	0
SHANK1	50944	broad.mit.edu	37	19	51215347	51215347	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:51215347G>T	ENST00000293441.1	-	6	835	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	SHANK1_ENST00000391814.1_Missense_Mutation_p.P273T|SHANK1_ENST00000359082.3_Missense_Mutation_p.P273T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	273					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)		TTGTAGTTGGGGGAACCCCCA	0.592000													26	51					7.4402e-23	1.09606e-22	0.021523	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33616027	33616027	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:33616027T>C	ENST00000504830.1	-	15	2629	c.2294A>G	c.(2293-2295)tAt>tGt	p.Y765C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Y680C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	765	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCCAGCTTATAGTTCCCGTT	0.473000										HNSCC(64;0.19)			54	107					0	0	0.014410	0	0
SEMA4G	57715	broad.mit.edu	37	10	102733330	102733330	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:102733330G>T	ENST00000210633.3	+	3	378	c.300G>T	c.(298-300)atG>atT	p.M100I	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.M100I|SEMA4G_ENST00000370250.4_Missense_Mutation_p.M100I			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	100	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCAGAGATGCAAAGCAAAT	0.512000													20	28					3.5997e-14	4.67557e-14	0.014323	1	0
WARS2	10352	broad.mit.edu	37	1	119575622	119575622	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:119575622T>A	ENST00000235521.4	-	6	1021	c.995A>T	c.(994-996)gAg>gTg	p.E332V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.E238V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	332					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TAAAACCTTCTCTAAATGGTC	0.433000													55	69					0	0	0.014410	0	0
FAM134B	54463	broad.mit.edu	37	5	16481131	16481131	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:16481131G>A	ENST00000306320.9	-	5	743	c.657C>T	c.(655-657)ctC>ctT	p.L219L	FAM134B_ENST00000399793.2_Silent_p.L78L	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	219					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GTAGATAGCTGAGTATAACCC	0.403000													12	44					0	0	0.016723	0	0
PDGFD	80310	broad.mit.edu	37	11	103797707	103797707	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:103797707C>T	ENST00000302251.5	-	6	1353	c.902G>A	c.(901-903)gGc>gAc	p.G301D	PDGFD_ENST00000393158.2_Missense_Mutation_p.G307D	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	307					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGTTCCACAGCCACAATTTCC	0.463000													15	25					0	0	0.004007	0	0
SLC26A10	65012	broad.mit.edu	37	12	58019492	58019492	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:58019492G>C	ENST00000320442.4	+	14	1967	c.1656G>C	c.(1654-1656)agG>agC	p.R552S	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	552						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTAGCACCAGGAGCGGGAGCC	0.602000													30	38					0	0	0.010818	0	0
HYAL1	3373	broad.mit.edu	37	3	50338079	50338079	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:50338079G>A	ENST00000266031.4	-	3	1758	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	HYAL1_ENST00000320295.8_Silent_p.L381L|HYAL1_ENST00000395143.2_Silent_p.L351L|HYAL1_ENST00000457214.2_Silent_p.L199L|HYAL1_ENST00000447605.2_Silent_p.L122L|HYAL1_ENST00000395144.2_Silent_p.L381L			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	381	EGF-like.					extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CAGGGTTAAGGAGGAGGAGGG	0.647000													7	18					0	0	0.001984	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434811	3434811	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:3434811G>C	ENST00000396852.4	-	6	1189	c.882C>G	c.(880-882)ctC>ctG	p.L294L	ZSCAN32_ENST00000304926.3_Silent_p.L82L|ZSCAN32_ENST00000422427.2_Silent_p.L82L|ZSCAN32_ENST00000574940.1_Silent_p.L294L|ZSCAN32_ENST00000396846.3_Silent_p.L294L|ZSCAN32_ENST00000439568.2_Silent_p.L5L|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000573830.1_Silent_p.L5L					zinc finger and SCAN domain containing 32																		CCTGCTCCCAGAGTCCTTCCG	0.527000													41	92					0	0	0.011902	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171829	68171829	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:68171829C>T	ENST00000243457.3	+	2	1032	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	KCNJ2_ENST00000535240.1_Missense_Mutation_p.L217F	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	217					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGTGGGCAATCTTCGGAAAAG	0.478000													16	79					0	0	0.004007	0	0
GRIA2	2891	broad.mit.edu	37	4	158281226	158281226	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:158281226C>A	ENST00000296526.7	+	13	2547	c.2222C>A	c.(2221-2223)aCc>aAc	p.T741N	GRIA2_ENST00000393815.2_Missense_Mutation_p.T694N|GRIA2_ENST00000507898.1_Missense_Mutation_p.T694N|GRIA2_ENST00000264426.9_Missense_Mutation_p.T741N|GRIA2_ENST00000449365.1_Missense_Mutation_p.T694N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	741					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCTTGCGACACCATGAAAGTT	0.468000													18	30					8.00594e-06	8.81752e-06	0.007413	1	0
PTPRH	5794	broad.mit.edu	37	19	55711607	55711607	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:55711607T>G	ENST00000376350.3	-	7	1439	c.1417A>C	c.(1417-1419)Aca>Cca	p.T473P	PTPRH_ENST00000263434.5_Missense_Mutation_p.T295P|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	473	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCTACCTGTGGAGATGCTG	0.547000													34	30					0	0	0.007835	0	0
RBM26	64062	broad.mit.edu	37	13	79940297	79940297	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:79940297G>C	ENST00000438737.2	-	8	1609	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C	RBM26_ENST00000267229.7_Missense_Mutation_p.S390C|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000438724.1_Missense_Mutation_p.S390C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	390	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATCCATGCCAGATGGCTGCAA	0.448000													40	37					0	0	0.006999	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887583	9887583	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:9887583C>T	ENST00000306084.6	+	2	1306	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.P302P	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	369	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCATCCAGCCCAAGGAGGGTG	0.562000													40	102					0	0	0.007835	0	0
RYR2	6262	broad.mit.edu	37	1	237754253	237754253	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:237754253A>G	ENST00000366574.2	+	31	4438	c.4121A>G	c.(4120-4122)aAa>aGa	p.K1374R	RYR2_ENST00000360064.6_Missense_Mutation_p.K1372R|RYR2_ENST00000542537.1_Missense_Mutation_p.K1358R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1374	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACAACCACAAAGATTATGCC	0.408000													13	24					0	0	0.006122	0	0
AGAP6	414189	broad.mit.edu	37	10	51768803	51768803	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:51768803C>T	ENST00000374056.4	+	7	1247	c.849C>T	c.(847-849)acC>acT	p.T283T	AGAP6_ENST00000412531.3_Silent_p.T306T			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	306					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AATACGTCACCCTGTGTTCCA	0.423000													133	247					0	0	0.014410	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622694	65622694	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:65622694G>T	ENST00000327987.4	-	11	2046	c.1795C>A	c.(1795-1797)Cag>Aag	p.Q599K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	599	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCCATGCTGGTTGTAGGCG	0.612000													97	108					6.09681e-45	1.00141e-44	0.014410	1	0
KIAA0232	9778	broad.mit.edu	37	4	6863978	6863978	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:6863978C>G	ENST00000307659.5	+	7	2324	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	KIAA0232_ENST00000425103.1_Silent_p.L623L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	623							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCACAGTGCTCAATTCACACC	0.448000													17	52					0	0	0.004990	0	0
ZNF483	158399	broad.mit.edu	37	9	114305175	114305175	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:114305175C>G	ENST00000309235.5	+	6	2118	c.1960C>G	c.(1960-1962)Cag>Gag	p.Q654E	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	654					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAGTCGTCATCAGAGAATTCA	0.398000													45	15					0	0	0.011902	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908202	164908202	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:164908202G>T	ENST00000475390.1	-	2	860	c.417C>A	c.(415-417)gtC>gtA	p.V139V	SLITRK3_ENST00000241274.3_Silent_p.V139V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	139						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CATTTCTGAAGACATCTAGTT	0.378000										HNSCC(40;0.11)			26	40					8.24728e-16	1.09858e-15	0.004656	1	0
C10orf120	399814	broad.mit.edu	37	10	124459151	124459151	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:124459151C>G	ENST00000329446.4	-	1	187	c.156G>C	c.(154-156)ctG>ctC	p.L52L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	52										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AAGCAGAACTCAGATCCTCTT	0.468000													15	18					0	0	0.020292	0	0
AFF2	2334	broad.mit.edu	37	X	148059939	148059939	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:148059939A>T	ENST00000370460.2	+	18	4003	c.3524A>T	c.(3523-3525)aAg>aTg	p.K1175M	AFF2_ENST00000286437.5_Missense_Mutation_p.K816M|AFF2_ENST00000342251.3_Missense_Mutation_p.K1142M|AFF2_ENST00000370457.5_Missense_Mutation_p.K1140M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1175					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTGAAGAAGGACCATGCT	0.348000													91	25					0	0	0.014410	0	0
ZNF208	7757	broad.mit.edu	37	19	22170039	22170039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:22170039C>A	ENST00000397126.4	-	3	353	c.205G>T	c.(205-207)Gag>Tag	p.E69*	ZNF208_ENST00000597040.1_Nonsense_Mutation_p.E37*|ZNF208_ENST00000599916.1_Nonsense_Mutation_p.E69*|ZNF208_ENST00000601773.1_Nonsense_Mutation_p.E69*	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCCACCATCTCATGTCTCTTC	0.423000													16	21					1.67942e-08	1.94194e-08	0.006122	1	0
FCAMR	83953	broad.mit.edu	37	1	207135640	207135640	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:207135640C>A	ENST00000324852.4	-	5	1044	c.570G>T	c.(568-570)ccG>ccT	p.P190P	FCAMR_ENST00000400962.3_Silent_p.P190P|FCAMR_ENST00000450945.2_Silent_p.P190P	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	145						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CGATGTCATCCGGGGACAGTT	0.522000													30	56					2.08457e-15	2.76265e-15	0.010818	1	0
CYP2C9	1559	broad.mit.edu	37	10	96701754	96701754	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:96701754C>T	ENST00000260682.6	+	2	320	c.308C>T	c.(307-309)gCt>gTt	p.A103V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	103					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTCCCACTGGCTGAAAGAGCT	0.498000													79	82					0	0	0.014410	0	0
GORASP2	26003	broad.mit.edu	37	2	171818182	171818182	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:171818182C>T	ENST00000234160.4	+	8	1648	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GORASP2_ENST00000452526.2_Missense_Mutation_p.T290I|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	278	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTGTACCAACAGTACCGTTA	0.423000													86	52					0	0	0.014410	0	0
UNC13A	23025	broad.mit.edu	37	19	17766706	17766706	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:17766706G>T	ENST00000428389.2	-	11	1532	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	UNC13A_ENST00000552293.1_Silent_p.P423P|UNC13A_ENST00000551649.1_Silent_p.P423P|UNC13A_ENST00000550896.1_Silent_p.P423P|UNC13A_ENST00000519716.2_Silent_p.P423P|UNC13A_ENST00000252773.7_Silent_p.P423P			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	423					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTCGTCCTTGGGTGGCTCAG	0.677000													7	3					8.12818e-05	8.6684e-05	0.001984	1	0
MAN2B2	23324	broad.mit.edu	37	4	6596438	6596438	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:6596438G>T	ENST00000285599.3	+	7	1072	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	MAN2B2_ENST00000504248.1_Missense_Mutation_p.D295Y	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	346					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						CGACCACCACGACTTCCTGCC	0.622000													9	14					2.17888e-05	2.36973e-05	0.006214	1	0
TXK	7294	broad.mit.edu	37	4	48076000	48076000	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:48076000C>G	ENST00000264316.4	-	13	1394	c.1309G>C	c.(1309-1311)Gtt>Ctt	p.V437L	TXK_ENST00000507351.1_Missense_Mutation_p.V92L	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	437	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AAAAGAAAAACTTCAGGAGGG	0.388000													25	53					0	0	0.016522	0	0
SPAG17	200162	broad.mit.edu	37	1	118550695	118550695	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:118550695A>G	ENST00000336338.5	-	31	4624	c.4559T>C	c.(4558-4560)aTt>aCt	p.I1520T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1520						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTGCAATAATAGTTGTTCC	0.488000													31	37					0	0	0.012213	0	0
CLK1	1195	broad.mit.edu	37	2	201719749	201719749	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:201719749T>C	ENST00000434813.2	-	10	1578	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	CLK1_ENST00000409769.2_Missense_Mutation_p.Y196C|CLK1_ENST00000321356.4_Missense_Mutation_p.Y373C	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	373	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAACCCAAGATAGTATTCAAT	0.373000													26	68					0	0	0.007291	0	0
CHL1	10752	broad.mit.edu	37	3	386319	386319	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:386319G>A	ENST00000256509.2	+	9	1417	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CHL1_ENST00000397491.2_Missense_Mutation_p.E243K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	243	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCCCACTGAGAGTGGCAG	0.383000													11	37					0	0	0.010729	0	0
ATG2B	55102	broad.mit.edu	37	14	96811723	96811723	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:96811723C>A	ENST00000359933.4	-	3	1219		c.e3-1			NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAACCAGTTGCTGTGGAAAAT	0.308000													12	13					2.80697e-09	3.28952e-09	0.010729	1	0
OR5J2	282775	broad.mit.edu	37	11	55944180	55944180	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:55944180G>T	ENST00000312298.1	+	1	87	c.87G>T	c.(85-87)gtG>gtT	p.V29V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	29					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)					TGCTTTTTGTGGTGTTCCTGG	0.388000													84	150					1.32003e-40	2.14789e-40	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141707947	141707947	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:141707947T>C	ENST00000389484.3	-	20	3964	c.2993A>G	c.(2992-2994)gAt>gGt	p.D998G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	998	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCCACCTCATCACTCCCGTC	0.453000										TSP Lung(27;0.18)			14	38					0	0	0.020292	0	0
PRTG	283659	broad.mit.edu	37	15	55972348	55972348	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:55972348C>T	ENST00000389286.4	-	6	924	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	293	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGCCTGACATCAGATATCATG	0.383000													15	28					0	0	0.004007	0	0
CCT6B	10693	broad.mit.edu	37	17	33286658	33286658	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:33286658C>A	ENST00000314144.5	-	2	264	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CCT6B_ENST00000436961.3_Missense_Mutation_p.G50V|CCT6B_ENST00000421975.3_Missense_Mutation_p.G50V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	50					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GTCACCTGCACCAGAAACAAG	0.428000													17	17					2.35188e-11	2.88251e-11	0.006122	1	0
STPG2	285555	broad.mit.edu	37	4	99027175	99027175	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:99027175C>A	ENST00000295268.3	-	5	630	c.541G>T	c.(541-543)Gat>Tat	p.D181Y		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TGTTGTTGATCTCTCTTGATG	0.249000													4	13					2.0095e-06	2.23206e-06	0.001984	1	0
PDE6C	5146	broad.mit.edu	37	10	95394661	95394661	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:95394661C>A	ENST00000371447.3	+	9	1404	c.1266C>A	c.(1264-1266)acC>acA	p.T422T		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	422	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AATACATTACCGAGGCAAGTG	0.378000													33	41					9.04072e-19	1.26231e-18	0.015359	1	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494284	142494284	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:142494284G>A	ENST00000390413.1	+	0	41																											GCTCTAGGCTGACCGTACTGG	0.657000													24	6					0	0	0.018920	0	0
GRID2	2895	broad.mit.edu	37	4	94411926	94411926	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:94411926C>A	ENST00000282020.4	+	12	2253	c.1995C>A	c.(1993-1995)atC>atA	p.I665I	GRID2_ENST00000510992.1_Silent_p.I570I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	665					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAAGTTCCATCCAGTAAGTAA	0.388000													21	52					9.57634e-11	1.15872e-10	0.018920	1	0
CDH18	1016	broad.mit.edu	37	5	19839086	19839086	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:19839086T>A	ENST00000507958.1	-	5	1000	c.10A>T	c.(10-12)Act>Tct	p.T4S	CDH18_ENST00000511273.1_Missense_Mutation_p.T4S|CDH18_ENST00000274170.4_Missense_Mutation_p.T4S|CDH18_ENST00000502796.1_Missense_Mutation_p.T4S|CDH18_ENST00000506372.1_Missense_Mutation_p.T4S|CDH18_ENST00000382275.1_Missense_Mutation_p.T4S			Q13634	CAD18_HUMAN	cadherin 18, type 2	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATGTGCTAGTAATTTTCATT	0.433000													21	34					0	0	0.010504	0	0
KMT2C	58508	broad.mit.edu	37	7	151970801	151970801	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:151970801G>T	ENST00000355193.2	-	7	1219	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	KMT2C_ENST00000262189.6_Missense_Mutation_p.A334D					lysine (K)-specific methyltransferase 2C																		TCTTTCAGGAGCTTGGTCAAT	0.383000													11	191					6.40141e-05	6.8549e-05	0.010729	1	0
SPATA18	132671	broad.mit.edu	37	4	52917890	52917890	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:52917890G>A	ENST00000295213.4	+	1	394	c.20G>A	c.(19-21)aGa>aAa	p.R7K	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.R7K	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	7					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AACCTGAAAAGACTGGTCTCA	0.582000													27	167					0	0	0.007291	0	0
CDC14A	8556	broad.mit.edu	37	1	100960462	100960462	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:100960462G>T	ENST00000336454.3	+	12	1581	c.1226G>T	c.(1225-1227)cGt>cTt	p.R409L	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.R409L|CDC14A_ENST00000544534.1_Missense_Mutation_p.R409L|CDC14A_ENST00000542213.1_Missense_Mutation_p.R351L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	409					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)		AGACAGCCACGTACCTCACCA	0.363000													38	33					6.1244e-12	7.68682e-12	0.007835	1	0
AFF2	2334	broad.mit.edu	37	X	148037737	148037737	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:148037737A>T	ENST00000370460.2	+	11	2641	c.2162A>T	c.(2161-2163)aAc>aTc	p.N721I	AFF2_ENST00000286437.5_Missense_Mutation_p.N362I|AFF2_ENST00000342251.3_Missense_Mutation_p.N688I|AFF2_ENST00000370457.5_Missense_Mutation_p.N688I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	721					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGACTCCAACACAGATCAG	0.478000													92	40					0	0	0.014410	0	0
GPD1	2819	broad.mit.edu	37	12	50501471	50501471	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:50501471G>C	ENST00000301149.3	+	6	966	c.734G>C	c.(733-735)gGc>gCc	p.G245A	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.G222A	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	245					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)	TTCTGCAGTGGCCCTGTGTCC	0.592000													77	109					0	0	0.014410	0	0
CPS1	1373	broad.mit.edu	37	2	211454898	211454898	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:211454898G>C	ENST00000233072.5	+	8	976	c.780G>C	c.(778-780)ttG>ttC	p.L260F	CPS1_ENST00000430249.2_Missense_Mutation_p.L266F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	260	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGGGATTTTGATCGCGGGAG	0.458000													54	183					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164776753	164776753	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:164776753C>G	ENST00000264382.3	-	12	1458	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	466	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTTTACCTCTCCAATAATT	0.378000										HNSCC(35;0.089)			14	20					0	0	0.003163	0	0
GUK1	2987	broad.mit.edu	37	1	228335203	228335203	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:228335203G>T	ENST00000366718.1	+	5	775	c.348G>T	c.(346-348)cgG>cgT	p.R116R	GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366721.1_Silent_p.R118R|GUK1_ENST00000366716.1_Silent_p.R116R|GUK1_ENST00000366726.1_Silent_p.R116R|GUK1_ENST00000366723.1_Silent_p.R137R|GUK1_ENST00000366722.1_Silent_p.R116R|GUK1_ENST00000366730.1_Silent_p.R116R|GUK1_ENST00000312726.4_Silent_p.R116R|GUK1_ENST00000391865.3_Silent_p.R137R|GUK1_ENST00000366728.2_Silent_p.R137R	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	116	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCGATCTGCGGCCCATCTACA	0.652000													61	70					3.28884e-47	5.42763e-47	0.014410	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86541468	86541468	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:86541468A>C	ENST00000450689.2	-	15	2274	c.2089T>G	c.(2089-2091)Tca>Gca	p.S697A	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S530A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S626A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S457A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	697						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTCATTAATGAGCCCACACTG	0.418000													11	63					0	0	0.004990	0	0
RPS16	6217	broad.mit.edu	37	19	39924008	39924008	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:39924008C>A	ENST00000339471.4	-	4	481	c.441G>T	c.(439-441)atG>atT	p.M147I	RPS16_ENST00000601655.1_Missense_Mutation_p.D99Y|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000251453.3_Missense_Mutation_p.D116Y			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCGGTCATACTGGATG	0.537000													38	72					2.40579e-17	3.25031e-17	0.006230	1	0
EML2	24139	broad.mit.edu	37	19	46130088	46130088	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:46130088C>T	ENST00000536630.1	-	11	1195	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	EML2_ENST00000589876.1_Missense_Mutation_p.E206K|EML2_ENST00000245925.3_Missense_Mutation_p.E206K|EML2_ENST00000587152.1_Missense_Mutation_p.E407K|EML2_ENST00000586902.1_5'UTR	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	206					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AATACAGCCTCATTGGAGCAC	0.572000													12	29					0	0	0.013537	0	0
PLOD2	5352	broad.mit.edu	37	3	145803125	145803125	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:145803125T>C	ENST00000461497.1	-	1	551	c.43A>G	c.(43-45)Aca>Gca	p.T15A	PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000282903.5_Intron			O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	0					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGAAAAATGTTAATATATAT	0.274000													7	10					0	0	0.001984	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616017	173616017	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:173616017T>A	ENST00000333279.2	-	3	524	c.464A>T	c.(463-465)cAg>cTg	p.Q155L		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	171										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ACACTCAGTCTGAGAATATCT	0.443000													61	87					0	0	0.014410	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863033	10863033	+	RNA	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:10863033C>A	ENST00000559480.1	+	0	329																		p.T110K(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCTGAGGACACGGCCATGTAT	0.502000													49	337					2.17126e-26	3.3157e-26	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141092069	141092069	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:141092069C>A	ENST00000389484.3	-	79	13147	c.12176G>T	c.(12175-12177)gGt>gTt	p.G4059V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4059					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCAGTGTACCATCCATGGC	0.433000										TSP Lung(27;0.18)			45	82					4.44712e-29	6.89205e-29	0.014410	1	0
ZNF724P	440519	broad.mit.edu	37	19	23406206	23406206	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:23406206C>A	ENST00000418100.1	-	4	958	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CATTTGTAGGCATTCTCTCCA	0.363000													9	2					1.58986e-06	1.76972e-06	0.008291	1	0
TBX5	6910	broad.mit.edu	37	12	114793895	114793895	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:114793895G>T	ENST00000310346.4	-	9	1665	c.999C>A	c.(997-999)acC>acA	p.T333T	TBX5_ENST00000349716.5_Silent_p.T283T|TBX5_ENST00000405440.2_Silent_p.T333T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	333					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GATGGTCTGTGGTGGAACATT	0.522000													29	50					1.39806e-14	1.83418e-14	0.008361	1	0
NLRP4	147945	broad.mit.edu	37	19	56379074	56379074	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:56379074G>T	ENST00000301295.6	+	6	2608		c.e6-1		NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Splice_Site	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTTTCCTGCAGGCTGGTAAAT	0.473000													65	48					6.1719e-39	9.9803e-39	0.014410	1	0
ITSN2	50618	broad.mit.edu	37	2	24480909	24480909	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:24480909C>G	ENST00000355123.4	-	23	3179	c.2736G>C	c.(2734-2736)aaG>aaC	p.K912N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K885N|ITSN2_ENST00000406921.3_Missense_Mutation_p.K912N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	912	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATCTTTCTTTGCAGTCC	0.398000													24	84					0	0	0.018920	0	0
CAD	790	broad.mit.edu	37	2	27448030	27448030	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:27448030G>T	ENST00000264705.4	+	11	1701	c.1539G>T	c.(1537-1539)gaG>gaT	p.E513D	CAD_ENST00000403525.1_Missense_Mutation_p.E513D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	513	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCTGACCGAGGATCGACGGG	0.612000													18	34					1.00905e-13	1.30413e-13	0.008871	1	0
TFDP2	7029	broad.mit.edu	37	3	141724290	141724290	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:141724290G>A	ENST00000489671.1	-	4	609	c.179C>T	c.(178-180)cCc>cTc	p.P60L	TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000495310.1_Missense_Mutation_p.P4S|TFDP2_ENST00000486111.1_5'UTR|TFDP2_ENST00000479040.1_5'UTR|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000317104.7_5'UTR|TFDP2_ENST00000499676.2_5'UTR|TFDP2_ENST00000467072.1_5'UTR|TFDP2_ENST00000310282.6_5'UTR			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	60					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TACCATTTGGGGTCCAACATT	0.303000													3	26					0	0	0.004672	0	0
DGKD	8527	broad.mit.edu	37	2	234343525	234343525	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:234343525G>C	ENST00000264057.2	+	5	576	c.564G>C	c.(562-564)acG>acC	p.T188T	DGKD_ENST00000409813.3_Silent_p.T144T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	188					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGGGGTCACGTCGCACGGGC	0.552000													35	112					0	0	0.019004	0	0
MAGI1	9223	broad.mit.edu	37	3	65367577	65367577	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:65367577C>A	ENST00000330909.8	-	17	2759	c.2760G>T	c.(2758-2760)acG>acT	p.T920T	MAGI1_ENST00000483466.1_Silent_p.T920T|MAGI1_ENST00000402939.2_Silent_p.T892T|MAGI1_ENST00000497477.2_Silent_p.T892T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	920					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TACGCCGCACCGTGAGATTGA	0.473000													15	23					1.05317e-09	1.24825e-09	0.020292	1	0
KRT78	196374	broad.mit.edu	37	12	53237914	53237914	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:53237914T>C	ENST00000359499.4	-	6	691	c.680A>G	c.(679-681)cAg>cGg	p.Q227R	KRT78_ENST00000304620.4_Missense_Mutation_p.Q337R			Q8N1N4	K2C78_HUMAN	keratin 78	337	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCAGCCTCTGAATCTCTTG	0.517000													85	145					0	0	0.014410	0	0
RBM12B	389677	broad.mit.edu	37	8	94746533	94746533	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:94746533G>A	ENST00000399300.2	-	3	2319	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	702							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCTGGGGGCCGCCTGA	0.642000													28	169					0	0	0.007291	0	0
ERP27	121506	broad.mit.edu	37	12	15090912	15090912	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:15090912C>T	ENST00000266397.2	-	2	742	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	57	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ACAGCCACCTCAGTGGCAGCA	0.532000													27	102					0	0	0.009535	0	0
TNS1	7145	broad.mit.edu	37	2	218712609	218712609	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:218712609G>A	ENST00000171887.4	-	17	2708	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	TNS1_ENST00000419504.1_Silent_p.S752S|TNS1_ENST00000430930.1_Silent_p.S752S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	752						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACTGACGGGAGGATCCAGAGA	0.652000													3	28					0	0	0.004672	0	0
HERC1	8925	broad.mit.edu	37	15	63956789	63956789	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:63956789C>G	ENST00000443617.2	-	43	8647	c.8560G>C	c.(8560-8562)Gat>Cat	p.D2854H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2854					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCAAATTATCAGGGCTACAA	0.413000													16	31					0	0	0.003163	0	0
MYF5	4617	broad.mit.edu	37	12	81111201	81111201	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:81111201A>T	ENST00000228644.3	+	1	511	c.359A>T	c.(358-360)aAg>aTg	p.K120M		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	120	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGGCTGCCCAAGGTGGAGATC	0.592000													45	81					0	0	0.014410	0	0
OR10A5	144124	broad.mit.edu	37	11	6867461	6867461	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:6867461C>A	ENST00000299454.4	+	1	579	c.548C>A	c.(547-549)cCg>cAg	p.P183Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.P187Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTGACAGCCCGCCTGTGCTG	0.527000													26	67					1.2476e-16	1.67686e-16	0.006320	1	0
CCDC170	80129	broad.mit.edu	37	6	151939103	151939103	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:151939103G>T	ENST00000367290.5	+	11	2079	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	CCDC170_ENST00000239374.7_Missense_Mutation_p.V657L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	657																	CAGGGAGGTGGTGTCGCAGAT	0.428000													8	57					0.000274275	0.000289837	0.004482	1	0
PLA2G6	8398	broad.mit.edu	37	22	38539223	38539223	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:38539223C>G	ENST00000332509.3	-	4	681	c.498G>C	c.(496-498)gaG>gaC	p.E166D	PLA2G6_ENST00000335539.3_Missense_Mutation_p.E166D|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E166D	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	166					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCACCAGGATCTCCCCATCAC	0.602000													121	66					0	0	0.014410	0	0
BCL11A	53335	broad.mit.edu	37	2	60688270	60688270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:60688270C>A	ENST00000335712.6	-	4	2004	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Nonsense_Mutation_p.E559*|BCL11A_ENST00000356842.4_Nonsense_Mutation_p.E593*|BCL11A_ENST00000537768.1_Nonsense_Mutation_p.E262*|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Nonsense_Mutation_p.E559*	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	593					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGGTCCGACTCGCCGGCCACC	0.692000			T	IGH@	B-CLL								25	30					8.24728e-16	1.09858e-15	0.004656	1	0
USP20	10868	broad.mit.edu	37	9	132620784	132620784	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:132620784C>T	ENST00000315480.4	+	6	395	c.237C>T	c.(235-237)ttC>ttT	p.F79F	USP20_ENST00000358355.1_Silent_p.F79F|USP20_ENST00000372429.3_Silent_p.F79F			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	79					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGACCACGTTCCGACTGTGGT	0.542000													58	67					0	0	0.014410	0	0
CLDN6	9074	broad.mit.edu	37	16	3065365	3065365	+	Missense_Mutation	SNP	C	C	T	rs150318164	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:3065365C>T	ENST00000396925.1	-	3	1086	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.V220I			P56747	CLD6_HUMAN	claudin 6	220	Interactions with TJP1, TJP2 and TJP3 (By similarity).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCACGTCAGACGTAATTCTTG	0.612000													14	40					0	0	0.020292	0	0
NDUFB5	4711	broad.mit.edu	37	3	179336219	179336219	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:179336219G>T	ENST00000493866.1	+	3	228	c.203G>T	c.(202-204)tGg>tTg	p.W68L	NDUFB5_ENST00000259037.3_Missense_Mutation_p.W120L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.W108L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	120					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	ATATCAAGATGGATTGCCCGT	0.328000													24	39					9.86323e-18	1.34475e-17	0.021523	1	0
MARS	4141	broad.mit.edu	37	12	57884035	57884035	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:57884035A>G	ENST00000262027.5	+	6	670	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	179	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGAGTACCCAGGAACCATGT	0.562000													8	260					0	0	0.003080	0	0
HYAL1	3373	broad.mit.edu	37	3	50340020	50340020	+	Nonsense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:50340020G>C	ENST00000266031.4	-	1	983	c.368C>G	c.(367-369)tCa>tGa	p.S123*	HYAL1_ENST00000320295.8_Nonsense_Mutation_p.S123*|HYAL1_ENST00000395143.2_Nonsense_Mutation_p.S123*|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Nonsense_Mutation_p.S123*			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	123						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TGCCAGCCCTGAGAAGTCAGG	0.622000													34	96					0	0	0.017118	0	0
TMEM2	23670	broad.mit.edu	37	9	74345089	74345089	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:74345089G>A	ENST00000377044.4	-	9	2393	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	TMEM2_ENST00000377066.5_Silent_p.F555F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	618						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAGATTGTGGAACAAAGTAT	0.418000													13	29					0	0	0.016723	0	0
BAALC	79870	broad.mit.edu	37	8	104225171	104225171	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:104225171C>A	ENST00000309982.5	+	2	373	c.185C>A	c.(184-186)tCc>tAc	p.S62Y	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.S97Y	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	97						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGACTGCCCTCCAATGGTGTG	0.552000													34	54					1.49673e-21	2.1712e-21	0.006230	1	0
ING4	51147	broad.mit.edu	37	12	6772256	6772256	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:6772256C>G	ENST00000341550.4	-	1	58	c.12G>C	c.(10-12)ggG>ggC	p.G4G	ING4_ENST00000412586.2_Silent_p.G4G|ING4_ENST00000444704.2_Silent_p.G4G|ING4_ENST00000446105.2_Silent_p.G4G|ING4_ENST00000396807.4_Silent_p.G4G|ING4_ENST00000423703.2_Silent_p.G4G			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	4					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CCAAATACATCCCCGCAGCCA	0.567000													20	21					0	0	0.012319	0	0
CFHR4	10877	broad.mit.edu	37	1	196876549	196876549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:196876549C>A	ENST00000367416.2	+	5	854	c.717C>A	c.(715-717)tgC>tgA	p.C239*	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AGTACCAGTGCCAGTCCTACT	0.438000													25	51					4.4004e-07	4.94571e-07	0.018920	1	0
SIM1	6492	broad.mit.edu	37	6	100901721	100901721	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:100901721C>A	ENST00000369208.3	-	3	958		c.e3-1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCGCCGAGCCCTGTGGAGACA	0.627000													9	26					1.58986e-06	1.76972e-06	0.008291	1	0
ITGAE	3682	broad.mit.edu	37	17	3657179	3657179	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:3657179G>A	ENST00000263087.4	-	13	1523	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	475					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.S475S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGCGATGTAGGAGAGGCTGC	0.627000													8	39					0	0	0.020292	0	0
CPA6	57094	broad.mit.edu	37	8	68430279	68430279	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:68430279C>A	ENST00000297770.4	-	3	411	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	CPA6_ENST00000518549.1_Missense_Mutation_p.D66Y|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	66					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGCCACAGGTCCACCTGTAGT	0.453000													34	34					1.74807e-11	2.15258e-11	0.010818	1	0
SEC23B	10483	broad.mit.edu	37	20	18491570	18491570	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:18491570G>T	ENST00000336714.3	+	2	523	c.91G>T	c.(91-93)Gct>Tct	p.A31S	SEC23B_ENST00000262544.2_Missense_Mutation_p.A31S|SEC23B_ENST00000377465.1_Missense_Mutation_p.A31S|SEC23B_ENST00000377475.3_Missense_Mutation_p.A31S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	31					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCGGCTGGAGGCTACAAGAAT	0.507000													47	26					3.05275e-18	4.22283e-18	0.013114	1	0
ZNF385B	151126	broad.mit.edu	37	2	180634376	180634376	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:180634376C>A	ENST00000410066.1	-	3	710	c.107G>T	c.(106-108)tGt>tTt	p.C36F		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	36						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCACACCTCACAGAAGGAGAA	0.493000													51	35					3.50607e-19	4.95505e-19	0.014410	1	0
TMEM38B	55151	broad.mit.edu	37	9	108536320	108536320	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:108536320T>A	ENST00000374688.1	+	6	1383	c.673T>A	c.(673-675)Tca>Aca	p.S225T	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S279T			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	279						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AGATGTTGCCTCAGATAATGT	0.388000													4	60					0	0	0.009096	0	0
NR5A2	2494	broad.mit.edu	37	1	200008890	200008890	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:200008890G>T	ENST00000367362.3	+	2	415	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	57					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCGATCGCATGGGGAACAGGG	0.697000													26	36					1.85244e-09	2.18316e-09	0.018920	1	0
OR8H1	219469	broad.mit.edu	37	11	56058348	56058348	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:56058348G>A	ENST00000313022.2	-	1	218	c.191C>T	c.(190-192)aCt>aTt	p.T64I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACAAGTGAGTAAGGAAAAA	0.408000													133	238					0	0	0.014410	0	0
TMEM52	339456	broad.mit.edu	37	1	1849837	1849837	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:1849837C>A	ENST00000378602.3	-	1	399	c.159G>T	c.(157-159)ctG>ctT	p.L53L	TMEM52_ENST00000310991.3_Silent_p.L68L			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	68						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGACACCACACAGCAGAAGCA	0.652000													19	10					2.35188e-11	2.88251e-11	0.006122	1	0
SNTG1	54212	broad.mit.edu	37	8	51449284	51449284	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:51449284G>T	ENST00000522124.1	+	11	1257	c.596G>T	c.(595-597)tGg>tTg	p.W199L	SNTG1_ENST00000518864.1_Missense_Mutation_p.W199L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W199L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W199L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	199					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGCTTGAGGTGGGAGAAGCGA	0.483000													27	100					3.65163e-15	4.81498e-15	0.006320	1	0
SYNJ2BP	55333	broad.mit.edu	37	14	70842434	70842434	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:70842434G>A	ENST00000256366.4	-	3	337	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CCTGCATTACGAAAGAGGTCT	0.463000													59	89					0	0	0.014410	0	0
MFGE8	4240	broad.mit.edu	37	15	89450519	89450519	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:89450519C>A	ENST00000539437.1	-	4	406	c.270G>T	c.(268-270)ttG>ttT	p.L90F	MFGE8_ENST00000566497.1_Missense_Mutation_p.L98F|MFGE8_ENST00000542878.1_Missense_Mutation_p.L54F|MFGE8_ENST00000268151.7_Missense_Mutation_p.L98F|MFGE8_ENST00000268150.8_Missense_Mutation_p.L98F|MFGE8_ENST00000559997.1_5'UTR			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	98	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCAATGCTGCAAACCCAAGA	0.602000													13	22					9.31168e-06	1.02232e-05	0.016723	1	0
BRWD1	54014	broad.mit.edu	37	21	40559157	40559157	+	Nonsense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:40559157G>C	ENST00000333229.2	-	42	7085	c.6758C>G	c.(6757-6759)tCa>tGa	p.S2253*		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCTGGTCCTGAGATCGTTTC	0.383000													16	56					0	0	0.004007	0	0
DCAF5	8816	broad.mit.edu	37	14	69522223	69522223	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:69522223G>A	ENST00000341516.5	-	9	1327	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.L312L|DCAF5_ENST00000557386.1_Silent_p.L393L|DCAF5_ENST00000554215.1_Silent_p.L312L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	394						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCACTGTTCAGCACAAGGCTG	0.567000													48	138					0	0	0.014410	0	0
NSMAF	8439	broad.mit.edu	37	8	59510429	59510429	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:59510429C>T	ENST00000038176.3	-	20	1830	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	NSMAF_ENST00000427130.2_Missense_Mutation_p.D571N	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	540	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGTTCAAGTCTACACCTCCT	0.303000													21	88					0	0	0.014323	0	0
ZWINT	11130	broad.mit.edu	37	10	58119606	58119606	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:58119606C>G	ENST00000373944.3	-	4	303	c.265G>C	c.(265-267)Gca>Cca	p.A89P	ZWINT_ENST00000361148.6_Missense_Mutation_p.A89P|ZWINT_ENST00000395405.1_Missense_Mutation_p.A89P			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	89	Interaction with NDC80 and ZW10.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCTGCAATTGCCTTCTGTCCT	0.547000													27	32					0	0	0.006320	0	0
DOT1L	84444	broad.mit.edu	37	19	2210435	2210435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:2210435G>T	ENST00000398665.3	+	13	1078	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	348						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CCAGCAGCGCGAGAGCAAGAG	0.721000													2	2					0.0016	0.00166713	0.004672	1	0
TTN	7273	broad.mit.edu	37	2	179582299	179582299	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179582299A>G	ENST00000589042.1	-	87	25526	c.25302T>C	c.(25300-25302)gcT>gcC	p.A8434A	TTN_ENST00000342992.6_Silent_p.A7190A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.A8117A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8117	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGATTAGAAGCAGAGCAAT	0.428000													5	22					0	0	0.014758	0	0
STAM2	10254	broad.mit.edu	37	2	152977148	152977148	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:152977148T>A	ENST00000263904.4	-	14	1867	c.1518A>T	c.(1516-1518)acA>acT	p.T506T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	506					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GAGCTGGAACTGTCACCGGAA	0.438000													5	56					0	0	0.014758	0	0
CAPN13	92291	broad.mit.edu	37	2	30974067	30974067	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:30974067C>T	ENST00000295055.8	-	11	1314	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E380K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	380					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGGTGCCTTCCATTGGCTCT	0.473000													7	37					0	0	0.004482	0	0
AREL1	9870	broad.mit.edu	37	14	75138120	75138120	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:75138120C>A	ENST00000356357.4	-	12	2004	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CCTTCTTCATCCTGGAAAACA	0.368000													14	48					1.49906e-05	1.63548e-05	0.020292	1	0
ATG2B	55102	broad.mit.edu	37	14	96761467	96761467	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:96761467C>G	ENST00000359933.4	-	36	6149	c.5256G>C	c.(5254-5256)ttG>ttC	p.L1752F	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1752										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGCCTTGGCAAACTGCAGG	0.393000													22	64					0	0	0.016522	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660849	100660849	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:100660849C>G	ENST00000416321.1	-	1	8	c.6G>C	c.(4-6)gtG>gtC	p.V2V		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	2					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CCTCCCCTGGCACCATAGCCC	0.657000													32	55					0	0	0.017118	0	0
ASIC3	9311	broad.mit.edu	37	7	150746307	150746307	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:150746307C>T	ENST00000357922.4	+	1	929	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ASIC3_ENST00000349064.5_Missense_Mutation_p.S112F|ASIC3_ENST00000297512.8_Missense_Mutation_p.S112F	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	112					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										TGGGCTGGGTCTGCGCTGCTG	0.697000													11	39					0	0	0.010729	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946348	65946348	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:65946348T>A	ENST00000261892.6	+	10	3518	c.3231T>A	c.(3229-3231)ctT>ctA	p.L1077L	SLC24A1_ENST00000399033.4_Silent_p.L1047L|SLC24A1_ENST00000339868.6_Silent_p.L1059L|SLC24A1_ENST00000546330.1_Silent_p.L1059L|SLC24A1_ENST00000544319.2_Silent_p.L963L|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000449142.2_3'UTR	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1077					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTCCTCCTTTACTTTGTAT	0.393000													78	73					0	0	0.014410	0	0
OR6C70	390327	broad.mit.edu	37	12	55862992	55862992	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:55862992C>A	ENST00000327335.4	-	1	930	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TATTACTTGTCTGAAGCAGAA	0.308000													20	41					0.00887093	0.00912464	0.008871	1	0
HSPA8	3312	broad.mit.edu	37	11	122930693	122930693	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:122930693C>T	ENST00000534624.1	-	5	884	c.608G>A	c.(607-609)gGc>gAc	p.G203D	HSPA8_ENST00000532636.1_Missense_Mutation_p.G203D|HSPA8_ENST00000526110.1_Missense_Mutation_p.G184D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.G203D|HSPA8_ENST00000227378.3_Missense_Mutation_p.G203D	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	203	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCAAAAGTGCCACCTCCCAG	0.408000													26	61					0	0	0.018920	0	0
NEBL	10529	broad.mit.edu	37	10	21074742	21074742	+	Silent	SNP	G	G	A	rs139156783	by1000genomes	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:21074742G>A	ENST00000377122.4	-	28	3375	c.2979C>T	c.(2977-2979)taC>taT	p.Y993Y	NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	993	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTGCCGTACATCCAGC	0.468000													20	37					0	0	0.008871	0	0
LTN1	26046	broad.mit.edu	37	21	30324587	30324587	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:30324587C>A	ENST00000361371.4	-	18	3390		c.e18-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTCTCTGGACCTGAAAAAGGA	0.328000													33	24					1.45844e-13	1.88028e-13	0.013726	1	0
OR4K2	390431	broad.mit.edu	37	14	20344473	20344473	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:20344473G>A	ENST00000298642.2	+	1	83	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	16					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)		GTTTTGCTGGGGCTCTCTAAT	0.378000													89	188					0	0	0.014410	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796813	93796813	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:93796813G>T	ENST00000315765.9	+	3	563	c.555G>T	c.(553-555)gtG>gtT	p.V185V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	185	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGACCTGGGTGTACCATTCGC	0.532000													42	65					5.34276e-22	7.7937e-22	0.014410	1	0
PLXNB2	23654	broad.mit.edu	37	22	50716346	50716346	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:50716346C>T	ENST00000449103.1	-	32	5124	c.4984G>A	c.(4984-4986)Gac>Aac	p.D1662N	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1662N			O15031	PLXB2_HUMAN	plexin B2	1662					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGCTCGTCCAGGAAGTCG	0.607000													44	18					0	0	0.009718	0	0
OR4A47	403253	broad.mit.edu	37	11	48510988	48510988	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:48510988C>G	ENST00000446524.1	+	1	720	c.644C>G	c.(643-645)tCt>tGt	p.S215C		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTACTCATCTCTTATGGTGTC	0.463000													61	19					0	0	0.014410	0	0
SFTPD	6441	broad.mit.edu	37	10	81697779	81697779	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:81697779C>T	ENST00000372292.3	-	8	997	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	319	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGCCCTCTGTCTTGGAATCAG	0.587000													81	189					0	0	0.014410	0	0
LYST	1130	broad.mit.edu	37	1	235971799	235971799	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:235971799C>G	ENST00000389794.3	-	5	2493	c.2319G>C	c.(2317-2319)gtG>gtC	p.V773V	LYST_ENST00000536965.1_Silent_p.V773V|LYST_ENST00000389793.2_Silent_p.V773V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	773					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAATCTGAAGCACGTCCTGAG	0.463000													12	35					0	0	0.020292	0	0
ARSB	411	broad.mit.edu	37	5	78251159	78251159	+	Missense_Mutation	SNP	C	C	T	rs34555226		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:78251159C>T	ENST00000264914.4	-	4	1393	c.857G>A	c.(856-858)aGc>aAc	p.S286N	ARSB_ENST00000396151.3_Missense_Mutation_p.S286N|ARSB_ENST00000565165.1_Missense_Mutation_p.S286N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	286					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GAGCCCACTGCTTTTTAAAGC	0.418000													33	14					0	0	0.006230	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017177	52017177	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:52017177C>G	ENST00000267838.3	-	2	929	c.415G>C	c.(415-417)Gct>Cct	p.A139P	LYSMD2_ENST00000454181.2_Missense_Mutation_p.A48P|LYSMD2_ENST00000560491.1_Missense_Mutation_p.A48P|LYSMD2_ENST00000558126.1_Missense_Mutation_p.A32P	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	139					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		CTGTTATCAGCAGTTTCATTT	0.438000													28	86					0	0	0.004656	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43831748	43831748	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:43831748G>A	ENST00000420765.1	-	30	3601	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S1073L|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S1116L|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S1073L|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S1140L|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S1136L|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S1115L|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S1115L	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1140					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			large_intestine(1)	1						TGGGTTATCTGAGGCCTGGCT	0.507000													7	11					0	0	0.004482	0	0
FOXF2	2295	broad.mit.edu	37	6	1395050	1395050	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:1395050C>G	ENST00000259806.1	+	2	1405	c.1291C>G	c.(1291-1293)Cac>Gac	p.H431D		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	431	Poly-His.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TTATCACCATCACCACCAGAG	0.527000													81	35					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168106856	168106856	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:168106856G>C	ENST00000409195.1	+	9	9043	c.8954G>C	c.(8953-8955)gGa>gCa	p.G2985A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2763A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2985A|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2810					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						ACTATCCCAGGATGGCTGATA	0.333000													70	56					0	0	0.014410	0	0
FGD1	2245	broad.mit.edu	37	X	54497771	54497771	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:54497771G>A	ENST00000375135.3	-	2	1190	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	153	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCGGTGCCCGCTTCAGTGGT	0.627000													40	15					0	0	0.007835	0	0
KMT2A	4297	broad.mit.edu	37	11	118390389	118390389	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:118390389G>C	ENST00000534358.1	+	32	11226	c.11203G>C	c.(11203-11205)Gag>Cag	p.E3735Q	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.E3732Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3694Q|RP11-770J1.3_ENST00000554407.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTTCCTCATTGAGCAGCTGTC	0.522000													53	94					0	0	0.014410	0	0
OR51M1	390059	broad.mit.edu	37	11	5411034	5411034	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:5411034G>T	ENST00000328611.3	+	1	428	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	136						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCGCCTTGTGGCCATCTG	0.507000													62	108					2.5401e-28	3.90755e-28	0.014410	1	0
PCSK5	5125	broad.mit.edu	37	9	78710919	78710919	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:78710919C>A	ENST00000545128.1	+	8	1546	c.1008C>A	c.(1006-1008)agC>agA	p.S336R	PCSK5_ENST00000376752.4_Missense_Mutation_p.S336R|PCSK5_ENST00000376767.3_Missense_Mutation_p.S336R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	336	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCTCCATCAGCAGCACTGCAG	0.517000													31	18					5.6714e-07	6.36735e-07	0.010818	1	0
FBXO40	51725	broad.mit.edu	37	3	121341645	121341645	+	Missense_Mutation	SNP	G	G	C	rs138259890		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:121341645G>C	ENST00000338040.4	+	3	1783	c.1369G>C	c.(1369-1371)Gtg>Ctg	p.V457L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	457					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGACTCCACGTGGAGCTCCA	0.527000													6	40					0	0	0.001168	0	0
PSMF1	9491	broad.mit.edu	37	20	1099525	1099525	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:1099525G>T	ENST00000335877.6	+	1	285	c.109G>T	c.(109-111)Ggc>Tgc	p.G37C	PSMF1_ENST00000246015.4_Missense_Mutation_p.G37C|PSMF1_ENST00000438768.2_Missense_Mutation_p.G37C|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.G37C	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	37					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|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	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CGGTTACTTCGGCTTGGGTGT	0.632000													37	19					4.92203e-23	7.26121e-23	0.006230	1	0
MGAT4C	25834	broad.mit.edu	37	12	86373510	86373510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:86373510C>A	ENST00000604798.1	-	8	2198	c.994G>T	c.(994-996)Gag>Tag	p.E332*	MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.E361*			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	332					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATGACTCCTCTTCAAAATCA	0.393000													32	42					2.61193e-14	3.40531e-14	0.009535	1	0
OR2T1	26696	broad.mit.edu	37	1	248570315	248570315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248570315C>A	ENST00000366474.1	+	1	1020	c.1020C>A	c.(1018-1020)taC>taA	p.Y340*		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATCTACAGCCTTAGAA	0.517000													36	143					1.04352e-10	1.25825e-10	0.017118	1	0
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	by1000genomes	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:12187210A>G	ENST00000439326.3	+	4	1450	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428000													3	41					0	0	0.009096	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887979	27887979	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:27887979G>A	ENST00000326019.6	+	2	1120	c.838G>A	c.(838-840)Gac>Aac	p.D280N		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	280						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACCAGAGGAAGACCGAGAGGC	0.463000													23	130					0	0	0.014323	0	0
ZXDC	79364	broad.mit.edu	37	3	126180669	126180669	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:126180669C>A	ENST00000389709.3	-	6	1889	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	ZXDC_ENST00000336332.5_Silent_p.L612L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	612	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCAGAGCCACCAGACAGCCTA	0.562000													37	62					4.0492e-12	5.10679e-12	0.006999	1	0
GPR101	83550	broad.mit.edu	37	X	136112486	136112486	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:136112486G>T	ENST00000298110.1	-	1	1347	c.1348C>A	c.(1348-1350)Cac>Aac	p.H450N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	450						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACATAGGGGTGGATGCAGCAC	0.493000													38	34					1.49673e-21	2.1712e-21	0.006230	1	0
SGOL2	151246	broad.mit.edu	37	2	201437170	201437170	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:201437170G>T	ENST00000357799.4	+	7	2199	c.2101G>T	c.(2101-2103)Gtt>Ttt	p.V701F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	701					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATGTACCCCGTTCAGCAAAA	0.348000													38	31					2.40579e-17	3.25031e-17	0.006230	1	0
ROBO1	6091	broad.mit.edu	37	3	78649295	78649295	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:78649295C>T	ENST00000436010.2	-	28	5789	c.4792G>A	c.(4792-4794)Gaa>Aaa	p.E1598K	ROBO1_ENST00000467549.1_Missense_Mutation_p.E1537K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1637K|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1592K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1637					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCCTCTTTCATATCCTCCA	0.368000													10	22					0	0	0.008291	0	0
C3orf67	200844	broad.mit.edu	37	3	58849595	58849595	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:58849595C>T	ENST00000472469.1	-	11	1466	c.628G>A	c.(628-630)Gct>Act	p.A210T	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.A303T|C3orf67_ENST00000295966.7_Missense_Mutation_p.A303T|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	303										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATGTGATCAGCATTTTCAGGA	0.383000													5	32					0	0	0.014758	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167338	10167338	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:10167338C>T	ENST00000396502.1	+	3	535	c.407C>T	c.(406-408)tCa>tTa	p.S136L	CLEC12B_ENST00000338896.5_Missense_Mutation_p.S136L	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	136						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTCATACTTCAGGTAATCAG	0.433000													7	29					0	0	0.003080	0	0
WARS2	10352	broad.mit.edu	37	1	119575623	119575623	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:119575623C>G	ENST00000235521.4	-	6	1020	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.E238Q	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	332					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AAAACCTTCTCTAAATGGTCC	0.433000													56	68					0	0	0.014410	0	0
ABCD2	225	broad.mit.edu	37	12	39980046	39980046	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:39980046A>T	ENST00000308666.3	-	7	1835	c.1700T>A	c.(1699-1701)gTg>gAg	p.V567E		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	567	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATATCATCCACTGAATCAGG	0.393000													35	48					0	0	0.013726	0	0
DBH	1621	broad.mit.edu	37	9	136501599	136501599	+	Missense_Mutation	SNP	G	G	T	rs143544421		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:136501599G>T	ENST00000393056.2	+	1	118	c.106G>T	c.(106-108)Gca>Tca	p.A36S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	36					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTGGTGGCCGCACTGCAGGG	0.672000													34	15					4.34311e-12	5.46425e-12	0.015359	1	0
NEB	4703	broad.mit.edu	37	2	152483651	152483651	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:152483651C>T	ENST00000397345.3	-	70	10414	c.10212G>A	c.(10210-10212)gtG>gtA	p.V3404V	NEB_ENST00000409198.1_Silent_p.V3161V|NEB_ENST00000604864.1_Silent_p.V3404V|NEB_ENST00000427231.2_Silent_p.V3404V|NEB_ENST00000172853.10_Silent_p.V3161V|NEB_ENST00000603639.1_Silent_p.V3404V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3404					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACTTGACCACATCCATAG	0.473000													24	82					0	0	0.014323	0	0
BRINP3	339479	broad.mit.edu	37	1	190203589	190203589	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:190203589C>A	ENST00000367462.3	-	5	868	c.637G>T	c.(637-639)Ggt>Tgt	p.G213C	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		213						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCAAGAGGACCAGTCCGTGTT	0.388000													9	49					1.58986e-06	1.76972e-06	0.008291	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237505	30237505	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:30237505C>A	ENST00000378988.4	+	2	909	c.808C>A	c.(808-810)Cgc>Agc	p.R270S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	270	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGATCCCCCACGCTTTCAATT	0.522000													21	15					2.4624e-09	2.89221e-09	0.008871	1	0
OVOL1	5017	broad.mit.edu	37	11	65562768	65562768	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:65562768C>G	ENST00000335987.3	+	4	1112	c.760C>G	c.(760-762)Cag>Gag	p.Q254E	OVOL1_ENST00000532448.1_Missense_Mutation_p.Q192E	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	254					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CGTGGCACTACAGAACACTGT	0.642000													9	14					0	0	0.006214	0	0
TMEM71	137835	broad.mit.edu	37	8	133726420	133726420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:133726420G>T	ENST00000356838.3	-	8	879	c.737C>A	c.(736-738)tCa>tAa	p.S246*	TMEM71_ENST00000523829.1_Nonsense_Mutation_p.S265*|TMEM71_ENST00000377901.4_Nonsense_Mutation_p.S202*	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	265				I -> T (in Ref. 1; BAB71537).		integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TATCATCAATGAGCATGTGAA	0.343000													19	74					1.15919e-05	1.26866e-05	0.008871	1	0
CYP4B1	1580	broad.mit.edu	37	1	47279949	47279949	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:47279949A>T	ENST00000271153.4	+	7	877	c.841A>T	c.(841-843)Agg>Tgg	p.R281W	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R282W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R267W|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R119W			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	281					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGAACCGGAGGCACCTGGA	0.582000													12	18					0	0	0.016723	0	0
RAD21	5885	broad.mit.edu	37	8	117875490	117875490	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:117875490C>A	ENST00000297338.2	-	3	440	c.153G>T	c.(151-153)atG>atT	p.M51I	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	51					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)					TCCGTAATGCCATTTTCACCT	0.348000													58	35					1.48873e-21	2.16561e-21	0.014410	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	42					0	0	0.004672	0	0
UNKL	64718	broad.mit.edu	37	16	1451662	1451662	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:1451662C>A	ENST00000389221.4	-	4	504	c.505G>T	c.(505-507)Ggc>Tgc	p.G169C	UNKL_ENST00000301712.5_Missense_Mutation_p.G169C|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.G169C|UNKL_ENST00000397462.1_Missense_Mutation_p.G256C	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	169						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCCCGCCGCCCAGCTGGCCG	0.637000													6	22					0.00116845	0.00121869	0.001168	1	0
KIF19	124602	broad.mit.edu	37	17	72348225	72348225	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:72348225C>A	ENST00000389916.4	+	13	1945	c.1807C>A	c.(1807-1809)Cac>Aac	p.H603N	AC103809.2_ENST00000599136.1_Missense_Mutation_p.C16F	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	603					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						CCTGGAGCAGCACCGCAGTCT	0.721000													23	6					1.9806e-07	2.2454e-07	0.014323	1	0
NELL2	4753	broad.mit.edu	37	12	45059388	45059388	+	Silent	SNP	G	G	T	rs138314628		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:45059388G>T	ENST00000429094.2	-	13	1827	c.1323C>A	c.(1321-1323)atC>atA	p.I441I	NELL2_ENST00000395487.2_Silent_p.I440I|NELL2_ENST00000333837.4_Silent_p.I464I|NELL2_ENST00000437801.2_Silent_p.I491I|NELL2_ENST00000452445.2_Silent_p.I441I|NELL2_ENST00000549027.1_Silent_p.I440I|NELL2_ENST00000551601.1_Silent_p.I440I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	441	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CACACTCATCGATGTCTGTGA	0.418000													49	53					7.89702e-26	1.19371e-25	0.014410	1	0
IPP	3652	broad.mit.edu	37	1	46206826	46206826	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:46206826G>A	ENST00000396478.3	-	3	573	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	157						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AGTTTTCTGAGAATTCCAAGA	0.393000													21	78					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179592463	179592463	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179592463A>T	ENST00000589042.1	-	68	20066	c.19842T>A	c.(19840-19842)ctT>ctA	p.L6614L	TTN_ENST00000342992.6_Silent_p.L5370L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L6297L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6297	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTGAGACAAGTTCCACAT	0.408000													125	125					0	0	0.014410	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604910	31604910	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:31604910G>A	ENST00000376033.2	+	29	6473	c.6239G>A	c.(6238-6240)gGa>gAa	p.G2080E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G2080E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2080	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCCAACTGGAAGGTGAAAC	0.522000													14	67					0	0	0.016723	0	0
SLC35F5	80255	broad.mit.edu	37	2	114512873	114512873	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:114512873C>A	ENST00000245680.2	-	3	555	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	SLC35F5_ENST00000409342.1_Missense_Mutation_p.V42L	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	48					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATACACACACCATTTGCAGT	0.353000													29	36					1.06801e-11	1.32454e-11	0.009535	1	0
MEIS1	4211	broad.mit.edu	37	2	66796210	66796210	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:66796210G>T	ENST00000272369.9	+	12	1600	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000398506.2_Intron|MEIS1_ENST00000495021.2_Missense_Mutation_p.M316I|MEIS1_ENST00000407092.2_Intron|MEIS1_ENST00000488550.1_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	381	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCATGAATATGGGCATGGAGG	0.443000													30	196					8.53417e-09	9.90116e-09	0.013726	1	0
NRIP2	83714	broad.mit.edu	37	12	2939958	2939958	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:2939958G>T	ENST00000337508.4	-	2	451	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	137					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCTGCATCCGGGGAGGCTCCC	0.582000													8	96					0.000157383	0.00016682	0.003080	1	0
CROCC	9696	broad.mit.edu	37	1	17281895	17281895	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:17281895G>A	ENST00000375541.5	+	24	3623	c.3554G>A	c.(3553-3555)cGt>cAt	p.R1185H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1185					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCAAGCTGCGTGAGAGCCAG	0.721000													14	1					0	0	0.020292	0	0
BCAR1	9564	broad.mit.edu	37	16	75269347	75269347	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:75269347C>T	ENST00000546196.1	-	5	3015	c.1363G>A	c.(1363-1365)Gcc>Acc	p.A455T	BCAR1_ENST00000420641.3_Missense_Mutation_p.A502T|BCAR1_ENST00000542031.2_Missense_Mutation_p.A482T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A530T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A502T|BCAR1_ENST00000535626.2_Missense_Mutation_p.A336T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A502T|BCAR1_ENST00000162330.5_Missense_Mutation_p.A484T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A484T|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	484	Ser-rich.				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)		GTCGCACCGGCGCTGCCTGCC	0.697000													5	15					0	0	0.014758	0	0
SSTR4	6754	broad.mit.edu	37	20	23016571	23016571	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:23016571C>A	ENST00000255008.3	+	1	515	c.451C>A	c.(451-453)Cct>Act	p.P151T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	151					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGGTGCACCCTCTGCGCGC	0.667000													43	20					3.43241e-23	5.07803e-23	0.009718	1	0
RBBP6	5930	broad.mit.edu	37	16	24582303	24582303	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:24582303C>T	ENST00000319715.4	+	18	4348	c.3916C>T	c.(3916-3918)Cca>Tca	p.P1306S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1272S|RBBP6_ENST00000381039.3_Missense_Mutation_p.P466S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1306					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAATACCGCGCCAGCTGAAGA	0.383000													15	40					0	0	0.004007	0	0
IMPG1	3617	broad.mit.edu	37	6	76734955	76734955	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:76734955T>A	ENST00000369963.3	-	4	473	c.284A>T	c.(283-285)gAg>gTg	p.E95V	IMPG1_ENST00000369950.3_Missense_Mutation_p.E173V			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	173					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAATGTCTTCTCTGCAGATAT	0.338000													16	43					0	0	0.008871	0	0
GCN1L1	10985	broad.mit.edu	37	12	120593437	120593437	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:120593437G>C	ENST00000300648.6	-	29	3411	c.3399C>G	c.(3397-3399)gtC>gtG	p.V1133V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1133					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCAAACTTGACCACCCAGA	0.537000													65	63					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69104750	69104750	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:69104750G>A	ENST00000288368.4	+	37	4871	c.4594G>A	c.(4594-4596)Ggt>Agt	p.G1532S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1532					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGCAGCAGCGGTGTGCATCG	0.488000													17	17					0	0	0.021523	0	0
LIPE	3991	broad.mit.edu	37	19	42911538	42911538	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:42911538C>T	ENST00000244289.4	-	6	2201	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	642					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGACCGCGAGCGGGGTGCCTG	0.672000													22	21					0	0	0.012319	0	0
MRPL42	28977	broad.mit.edu	37	12	93863091	93863091	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:93863091G>T	ENST00000549982.1	+	2	191	c.30G>T	c.(28-30)atG>atT	p.M10I	MRPL42_ENST00000547098.1_Missense_Mutation_p.M10I|MRPL42_ENST00000552217.1_Missense_Mutation_p.M10I|MRPL42_ENST00000393128.4_Missense_Mutation_p.M10I|MRPL42_ENST00000361630.2_Missense_Mutation_p.V4F|MRPL42_ENST00000548545.1_Missense_Mutation_p.M10I	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	10					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						AATGGGTGATGTCAAAGAGAA	0.294000													20	36					1.28384e-07	1.45865e-07	0.012319	1	0
ERAS	3266	broad.mit.edu	37	X	48687841	48687841	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:48687841G>T	ENST00000338270.1	+	1	559	c.308G>T	c.(307-309)aGg>aTg	p.R103M		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	103					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GCCATCCATAGGGCCCTGCGT	0.602000													39	20					1.7489e-18	2.4289e-18	0.011902	1	0
OR51E2	81285	broad.mit.edu	37	11	4703827	4703827	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:4703827A>T	ENST00000396950.3	-	2	354	c.115T>A	c.(115-117)Ttt>Att	p.F39I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGTTTCCAAACATTGCCACT	0.507000													37	18					0	0	0.019004	0	0
FAT2	2196	broad.mit.edu	37	5	150923793	150923793	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:150923793G>T	ENST00000261800.5	-	9	6907	c.6895C>A	c.(6895-6897)Cag>Aag	p.Q2299K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2299	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGAGTCCTGGTCAGAAGCC	0.507000													47	33					3.4597e-24	5.17714e-24	0.014410	1	0
ITGAE	3682	broad.mit.edu	37	17	3655072	3655072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:3655072G>A	ENST00000263087.4	-	15	1863	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	589					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCTTATCCTGACTGAGATCC	0.567000													25	53					0	0	0.005443	0	0
SGCD	6444	broad.mit.edu	37	5	155935677	155935677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:155935677C>T	ENST00000435422.3	+	3	743	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	SGCD_ENST00000337851.4_Nonsense_Mutation_p.Q87*|SGCD_ENST00000447401.1_Nonsense_Mutation_p.Q87*|SGCD_ENST00000517913.1_Nonsense_Mutation_p.Q87*	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	86					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAATTCTTACAACCTCTCTA	0.408000													18	10					0	0	0.006122	0	0
APOB	338	broad.mit.edu	37	2	21250788	21250788	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:21250788A>G	ENST00000233242.1	-	14	2106	c.1979T>C	c.(1978-1980)aTa>aCa	p.I660T	APOB_ENST00000399256.4_Missense_Mutation_p.I660T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	660	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGATCAAATATAAGATTCCC	0.413000													95	73					0	0	0.014410	0	0
TCF12	6938	broad.mit.edu	37	15	57511745	57511745	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:57511745G>T	ENST00000343827.3	+	1	82	c.26G>T	c.(25-27)gGa>gTa	p.G9V	TCF12_ENST00000438423.2_Intron|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.G9V|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Intron	NM_207040.1	NP_996923.1	Q99081	HTF4_HUMAN	transcription factor 12	0					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTGTCCCTGGAATGGGCAGC	0.373000			T	TEC	extraskeletal myxoid chondrosarcoma								26	23					4.22769e-11	5.16333e-11	0.006320	1	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796933	42796933	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:42796933C>G	ENST00000314073.5	+	6	1038	c.862C>G	c.(862-864)Caa>Gaa	p.Q288E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.Q288E					GLTSCR1-like																		CACAAATTTTCAAACATCTTT	0.413000													24	83					0	0	0.014323	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494064	173494064	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:173494064G>T	ENST00000367714.3	-	20	2790	c.2368C>A	c.(2368-2370)Ctc>Atc	p.L790I	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	790					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGCTCCATGAGTACTACAGCA	0.348000													39	57					5.44703e-19	7.65667e-19	0.009718	1	0
IL7R	3575	broad.mit.edu	37	5	35873614	35873614	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:35873614C>A	ENST00000303115.3	+	5	699	c.570C>A	c.(568-570)ctC>ctA	p.L190L	IL7R_ENST00000343305.4_Silent_p.L190L|IL7R_ENST00000506850.1_Silent_p.L190L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	190	Fibronectin type-III.				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)			AGCTGACACTCCTGCAGAGAA	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						20	49					1.10513e-12	1.40739e-12	0.014323	1	0
NUDT22	84304	broad.mit.edu	37	11	63994328	63994328	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:63994328G>T	ENST00000279206.3	+	2	360	c.204G>T	c.(202-204)ctG>ctT	p.L68L	NUDT22_ENST00000441250.2_Silent_p.L68L	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	68							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CAGCCACCCTGGCGCCTATTG	0.662000													51	65					1.39843e-22	2.05431e-22	0.014410	1	0
MYH7	4625	broad.mit.edu	37	14	23885394	23885394	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:23885394A>T	ENST00000355349.3	-	34	4934	c.4772T>A	c.(4771-4773)cTg>cAg	p.L1591Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1591					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1591Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCACCCGCAGGTGGTTGCG	0.607000													68	50					0	0	0.014410	0	0
SUPT20H	55578	broad.mit.edu	37	13	37598567	37598567	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:37598567C>T	ENST00000360252.4	-	18	1592	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	SUPT20H_ENST00000464744.1_Missense_Mutation_p.V449M|SUPT20H_ENST00000356185.3_Missense_Mutation_p.V449M|SUPT20H_ENST00000475892.1_Missense_Mutation_p.V448M|SUPT20H_ENST00000350612.6_Missense_Mutation_p.V448M|SUPT20H_ENST00000542180.1_Missense_Mutation_p.V412M	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGAACTGACACGGTTTCAGTT	0.358000													13	14					0	0	0.016723	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145791	123145791	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:123145791G>T	ENST00000264501.4	+	23	3125	c.2752G>T	c.(2752-2754)Gtg>Ttg	p.V918L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V918L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V918L			Q2LD37	K1109_HUMAN	KIAA1109	918					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						GTTAATTGATGTGCAGGCTGG	0.448000													29	13					1.99505e-19	2.83107e-19	0.012213	1	0
GLI2	2736	broad.mit.edu	37	2	121747030	121747030	+	Silent	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:121747030T>C	ENST00000452319.1	+	14	3600	c.3540T>C	c.(3538-3540)ttT>ttC	p.F1180F	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.F1180F			P10070	GLI2_HUMAN	GLI family zinc finger 2	1180					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCTGCCTTTGGCCAGTACC	0.687000													30	31					0	0	0.008361	0	0
FMR1NB	158521	broad.mit.edu	37	X	147062985	147062985	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:147062985G>T	ENST00000370467.3	+	1	137	c.63G>T	c.(61-63)gtG>gtT	p.V21V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	21						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCGTGTGGCTCACTTAG	0.597000													41	18					6.04917e-29	9.3471e-29	0.006999	1	0
SEC22A	26984	broad.mit.edu	37	3	122942427	122942427	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:122942427G>T	ENST00000309934.4	+	2	1100	c.204G>T	c.(202-204)gtG>gtT	p.V68V	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Silent_p.V68V	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	68	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTCTGGGAGTGAGCTACATGA	0.353000													57	81					7.89702e-26	1.19371e-25	0.014410	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032303	46032303	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:46032303C>G	ENST00000334662.2	+	1	308	c.286C>G	c.(286-288)Cct>Gct	p.P96A	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	96	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.P96A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTCCTGCACACCTTCATGCTG	0.662000													27	111					0	0	0.006320	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33604900	33604900	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:33604900G>T	ENST00000321505.4	+	10	3708	c.3528G>T	c.(3526-3528)ccG>ccT	p.P1176P	KIAA1549L_ENST00000265654.5_Silent_p.P1182P|KIAA1549L_ENST00000389726.3_Silent_p.P1182P					KIAA1549-like																		TGAAGAACCCGCCCAATAACC	0.567000													9	4					0.00448238	0.00463342	0.004482	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672856	10672856	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:10672856C>A	ENST00000302079.6	-	50	7647	c.7648G>T	c.(7648-7650)Gat>Tat	p.D2550Y	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2638Y|PIEZO2_ENST00000285141.4_Missense_Mutation_p.D405Y|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2613Y|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D570Y			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2613						integral to membrane	ion channel activity										ATGGTAATATCCATGAAATTA	0.353000													32	23					1.62565e-12	2.06523e-12	0.012213	1	0
TOX	9760	broad.mit.edu	37	8	59720703	59720703	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:59720703G>A	ENST00000361421.1	-	8	1738	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	506						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGTTATTCCAGTCCACCGGTT	0.527000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	57					0	0	0.010729	0	0
GPN1	11321	broad.mit.edu	37	2	27873054	27873054	+	Missense_Mutation	SNP	G	G	A	rs35943531	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:27873054G>A	ENST00000264718.3	+	14	1175	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K	GPN1_ENST00000458167.2_Missense_Mutation_p.R276K|GPN1_ENST00000407583.3_Missense_Mutation_p.R359K|GPN1_ENST00000515877.1_Missense_Mutation_p.R292K|GPN1_ENST00000503738.1_Missense_Mutation_p.R276K|GPN1_ENST00000424214.1_Missense_Mutation_p.R292K	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	371						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TACTGGAAGAGAAACAATAAA	0.408000													20	31					0	0	0.014323	0	0
HRNR	388697	broad.mit.edu	37	1	152191718	152191718	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:152191718G>C	ENST00000368801.2	-	3	2462	c.2387C>G	c.(2386-2388)tCt>tGt	p.S796C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	796					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGTGCCAGACCCGTGTTG	0.602000													34	45					0	0	0.013726	0	0
COL5A1	1289	broad.mit.edu	37	9	137688242	137688242	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:137688242C>T	ENST00000371817.3	+	35	3236	c.2822C>T	c.(2821-2823)cCa>cTa	p.P941L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTGACGGCCCAGCTGGCCCT	0.582000													60	25					0	0	0.014410	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182283	5182283	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:5182283G>A	ENST00000274181.7	+	4	766	c.628G>A	c.(628-630)Gag>Aag	p.E210K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E210K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	210					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGATCCACAGAGCCCCATGC	0.592000													12	51					0	0	0.013537	0	0
GPR4	2828	broad.mit.edu	37	19	46094750	46094750	+	Silent	SNP	G	G	A	rs144692714		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:46094750G>A	ENST00000323040.4	-	2	1319	c.375C>T	c.(373-375)ttC>ttT	p.F125F	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	125						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGCGGGCGAAGCGGAGTG	0.642000													17	81					0	0	0.006122	0	0
DENND4B	9909	broad.mit.edu	37	1	153905780	153905780	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:153905780C>T	ENST00000361217.4	-	21	3764	c.3346G>A	c.(3346-3348)Ggc>Agc	p.G1116S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1116	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACTCACTGCCCAGAGAGGCT	0.562000													9	9					0	0	0.004482	0	0
ZNF365	22891	broad.mit.edu	37	10	64136310	64136310	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:64136310G>A	ENST00000395254.3	+	2	638	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ZNF365_ENST00000410046.3_Missense_Mutation_p.E120K|ZNF365_ENST00000395255.3_Missense_Mutation_p.E120K|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTGGTGGCAGAGAGGCCTGT	0.542000													12	75					0	0	0.013537	0	0
HERC5	51191	broad.mit.edu	37	4	89410315	89410315	+	Splice_Site	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:89410315A>G	ENST00000264350.3	+	16	2115		c.e16-1		HERC5_ENST00000508159.1_Splice_Site	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5						innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTGTTTTCCTAGAGTAAAAAA	0.378000													22	77					0	0	0.014323	0	0
OR2G6	391211	broad.mit.edu	37	1	248685669	248685669	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248685669G>A	ENST00000343414.4	+	1	754	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGGGACCTGTTCGTCTCAC	0.458000													28	72					0	0	0.006320	0	0
EIF1AD	84285	broad.mit.edu	37	11	65766116	65766116	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:65766116T>A	ENST00000312234.2	-	6	786	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	EIF1AD_ENST00000527249.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000533544.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000526451.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000525767.1_Missense_Mutation_p.Q99L	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	151						nucleus	translation initiation factor activity			lung(5)	5						CTCATGATACTGTCTGCGGTT	0.527000													103	184					0	0	0.014410	0	0
CEP135	9662	broad.mit.edu	37	4	56819337	56819337	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:56819337T>A	ENST00000257287.4	+	3	324	c.200T>A	c.(199-201)gTt>gAt	p.V67D	CEP135_ENST00000422247.2_Missense_Mutation_p.V67D	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	67					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATTTTGTTTTGGAACCC	0.338000													21	87					0	0	0.008871	0	0
CORO2B	10391	broad.mit.edu	37	15	69006979	69006979	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:69006979C>A	ENST00000543950.1	+	7	1186	c.832C>A	c.(832-834)Cac>Aac	p.H278N	CORO2B_ENST00000540068.1_Missense_Mutation_p.H278N|CORO2B_ENST00000261861.5_Missense_Mutation_p.H278N|CORO2B_ENST00000566799.1_Missense_Mutation_p.H283N	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	283					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCTGACACCCACATGCTCTA	0.612000													82	111					6.03386e-27	9.24128e-27	0.014410	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129013	248129013	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248129013C>A	ENST00000366480.3	+	1	479	c.380C>A	c.(379-381)gCc>gAc	p.A127D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAACTGAAGCCCTTCTCCTT	0.443000													56	215					1.55088e-19	2.2098e-19	0.014410	1	0
ST18	9705	broad.mit.edu	37	8	53085051	53085051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:53085051C>A	ENST00000276480.7	-	10	1053	c.370G>T	c.(370-372)Gag>Tag	p.E124*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACCATGAGCTCTTGATAACAA	0.358000													27	22					7.38237e-10	8.79978e-10	0.006320	1	0
IGLV11-55	28770	broad.mit.edu	37	22	22556286	22556286	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:22556286G>A	ENST00000390286.2	+	0	112																											TGCATCCCCGGGAGCAACAGC	0.617000											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	11					0	0	0.007291	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162305	1162305	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:1162305C>T	ENST00000356191.2	+	20	1805	c.1805C>T	c.(1804-1806)gCc>gTc	p.602_602insV						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACCCAGGCCGCCTGCCCCAAC	0.642000													15	8					0	0	0.004007	0	0
JPH3	57338	broad.mit.edu	37	16	87678547	87678547	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:87678547G>T	ENST00000284262.2	+	2	1308	c.1066G>T	c.(1066-1068)Gcc>Tcc	p.A356S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	356					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCCCTGCGGGCCAGCAAGAT	0.652000													9	31					5.4927e-09	6.40815e-09	0.004482	1	0
TP53BP1	7158	broad.mit.edu	37	15	43749011	43749011	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:43749011T>C	ENST00000263801.3	-	12	2032	c.1780A>G	c.(1780-1782)Agg>Ggg	p.R594G	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R599G|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R599G|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R599G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	594					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGTCATCCCTGGTGTCTGTA	0.438000								Other conserved DNA damage response genes					57	81					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237955573	237955573	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:237955573C>G	ENST00000366574.2	+	94	14049	c.13732C>G	c.(13732-13734)Ctg>Gtg	p.L4578V	RYR2_ENST00000360064.6_Missense_Mutation_p.L4584V|RYR2_ENST00000542537.1_Missense_Mutation_p.L4562V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4578					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTAGCTATTCTGCACACGGT	0.478000													11	26					0	0	0.013537	0	0
AFM	173	broad.mit.edu	37	4	74357791	74357791	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:74357791C>A	ENST00000226355.3	+	8	1139	c.1046C>A	c.(1045-1047)aCc>aAc	p.T349N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	349	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACCCAGACACCTTCTTTGCG	0.333000													29	41					1.16021e-09	1.37199e-09	0.007291	1	0
COPB2	9276	broad.mit.edu	37	3	139092571	139092571	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:139092571C>A	ENST00000333188.5	-	8	1012	c.831G>T	c.(829-831)gtG>gtT	p.V277V	COPB2_ENST00000507777.1_Silent_p.V248V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	277					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTAGACTGGCCACGCACCATA	0.438000													12	75					1.08611e-07	1.23669e-07	0.010729	1	0
BACH2	60468	broad.mit.edu	37	6	90642332	90642332	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:90642332G>T	ENST00000257749.4	-	9	3028	c.2321C>A	c.(2320-2322)gCg>gAg	p.A774E	BACH2_ENST00000343122.3_Missense_Mutation_p.A774E|BACH2_ENST00000537989.1_Missense_Mutation_p.A774E	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	774						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGAGCCGCGCCTGGCTC	0.632000													20	50					5.03518e-11	6.128e-11	0.007413	1	0
MATN1	4146	broad.mit.edu	37	1	31188132	31188132	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:31188132A>T	ENST00000373765.4	-	6	1267	c.1232T>A	c.(1231-1233)gTg>gAg	p.V411E		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	411	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGCATTGCCCACACCCACAGC	0.552000													28	15					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179592877	179592877	+	Silent	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179592877T>A	ENST00000589042.1	-	67	19898	c.19674A>T	c.(19672-19674)gtA>gtT	p.V6558V	TTN_ENST00000342992.6_Silent_p.V5314V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.V6241V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6241	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTCCTGCTACATTTGACA	0.373000													9	24					0	0	0.004482	0	0
TCF20	6942	broad.mit.edu	37	22	42565869	42565869	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr22:42565869C>A	ENST00000359486.3	-	3	5919	c.5783G>T	c.(5782-5784)aGg>aTg	p.R1928M	TCF20_ENST00000404876.1_Missense_Mutation_p.R229M|TCF20_ENST00000335626.4_Missense_Mutation_p.R1928M	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGGGCACCTCACCGAGAA	0.547000											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	10					0.00498961	0.00513738	0.004990	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776342	31776342	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:31776342G>A	ENST00000382902.1	-	11	2049	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R646W			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	646						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AACTGGTGCCGGTGGCTGGTG	0.662000													4	21					0	0	0.009096	0	0
CHD7	55636	broad.mit.edu	37	8	61655063	61655063	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:61655063G>T	ENST00000423902.2	+	2	1551	c.1072G>T	c.(1072-1074)Ggt>Tgt	p.G358C	CHD7_ENST00000524602.1_Missense_Mutation_p.G358C|CHD7_ENST00000525508.1_Missense_Mutation_p.G358C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	358					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATCAAACAGTGGTCAAGGACT	0.448000													16	46					2.35188e-11	2.88251e-11	0.006122	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57871338	57871338	+	Silent	SNP	C	C	T	rs61740924		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:57871338C>T	ENST00000393797.2	-	7	1065	c.873G>A	c.(871-873)gaG>gaA	p.E291E	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Silent_p.E36E|ARHGAP9_ENST00000424809.2_Silent_p.E220E|ARHGAP9_ENST00000550288.1_Silent_p.E299E|ARHGAP9_ENST00000393791.3_Silent_p.E220E|ARHGAP9_ENST00000356411.2_Silent_p.E220E			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	220					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCAGGTGCTGCTCCCAGGCAT	0.647000													41	47					0	0	0.006999	0	0
PGM2L1	283209	broad.mit.edu	37	11	74056626	74056626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:74056626C>T	ENST00000298198.4	-	9	1417	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	369					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATTTTTCTTCCAGCAATCAAA	0.378000													27	58					0	0	0.006320	0	0
C12orf52	84934	broad.mit.edu	37	12	113624489	113624489	+	Splice_Site	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:113624489G>A	ENST00000552495.1	+	2	482	c.8_splice	c.e2-1	p.E4_splice	C12orf52_ENST00000549621.1_5'UTR|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000548278.1_5'UTR			Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	0					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CTCTCACAGGGAGCCTCGGAA	0.597000													5	10					0	0	0.014758	0	0
DNAH11	8701	broad.mit.edu	37	7	21760398	21760398	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:21760398G>T	ENST00000328843.6	+	45	7242	c.7211G>T	c.(7210-7212)aGc>aTc	p.S2404I	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2397I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2404					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						CCTTCTGACAGCCCAAAAGAA	0.353000									Kartagener syndrome				4	6					0.00024832	0.000262942	0.009096	1	0
SEC16A	9919	broad.mit.edu	37	9	139370617	139370617	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:139370617C>G	ENST00000313050.7	-	1	1524	c.1451G>C	c.(1450-1452)aGt>aCt	p.S484T	SEC16A_ENST00000371706.3_Missense_Mutation_p.S306T|SEC16A_ENST00000431893.2_Missense_Mutation_p.S306T|SEC16A_ENST00000290037.6_Missense_Mutation_p.S306T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	306					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAACTGGTCACTCGGGGAGGA	0.557000													30	16					0	0	0.006320	0	0
ALDH1A1	216	broad.mit.edu	37	9	75526897	75526897	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:75526897C>T	ENST00000297785.3	-	10	1231	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	393					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATGCGCATCTCATCTGTAACA	0.448000													9	58					0	0	0.006214	0	0
C10orf120	399814	broad.mit.edu	37	10	124458873	124458873	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:124458873G>A	ENST00000329446.4	-	2	263	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	78										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTTCCAAGGGGGAGTATTTC	0.488000													15	60					0	0	0.004007	0	0
ATP2A2	488	broad.mit.edu	37	12	110784087	110784087	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:110784087G>A	ENST00000395494.2	+	19	3423	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ATP2A2_ENST00000539276.2_Missense_Mutation_p.E981K|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E981K			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	981					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTCATGGATGAGACGCTCAA	0.547000													21	57					0	0	0.010504	0	0
CPAMD8	27151	broad.mit.edu	37	19	17086925	17086925	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:17086925C>A	ENST00000443236.1	-	16	1967	c.1936G>T	c.(1936-1938)Ggg>Tgg	p.G646W	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	599						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAACCTCCCCAGGTTGGGTC	0.562000													19	7					1.37522e-17	1.87009e-17	0.007413	1	0
NR1H4	9971	broad.mit.edu	37	12	100897248	100897248	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:100897248A>T	ENST00000188403.7	+	1	111	c.83A>T	c.(82-84)gAa>gTa	p.E28V	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.E28V|NR1H4_ENST00000392986.3_Intron	NM_001206992.1|NM_001206993.1	NP_001193921.1|NP_001193922.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	28					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TTTTTCATGGAAATGATGAGT	0.458000													4	29					0	0	0.009096	0	0
UBAP2L	9898	broad.mit.edu	37	1	154241426	154241426	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:154241426G>A	ENST00000428931.1	+	26	3331	c.3164G>A	c.(3163-3165)gGc>gAc	p.G1055D	UBAP2L_ENST00000271877.7_Missense_Mutation_p.G1065D|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G1055D	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1055					binding of sperm to zona pellucida		protein binding	p.G551V(1)|p.G1055V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCAGGATGGCCAGGTAATA	0.547000													48	71					0	0	0.014410	0	0
SORBS3	10174	broad.mit.edu	37	8	22421801	22421801	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:22421801C>T	ENST00000240123.7	+	9	1064	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	227					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGCAGGTGCTCAGACGCCGGG	0.592000													4	4					0	0	0.014758	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52912093	52912093	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:52912093C>G	ENST00000371544.3	-	22	3797	c.3535G>C	c.(3535-3537)Gga>Cga	p.G1179R	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.G1179R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1179					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTGTTCTTTCCAAGTGAAGGT	0.333000													7	36					0	0	0.001984	0	0
PSG5	5673	broad.mit.edu	37	19	43689015	43689015	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:43689015C>T	ENST00000404580.1	-	2	437	c.349G>A	c.(349-351)Gca>Aca	p.A117T	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.A117T|PSG5_ENST00000342951.6_Missense_Mutation_p.A117T|PSG5_ENST00000599812.1_Missense_Mutation_p.A117T|PSG5_ENST00000407568.1_Missense_Mutation_p.A117T|PSG5_ENST00000407356.1_Missense_Mutation_p.A117T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	117	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TAGGATCCTGCGTCTTCCCGG	0.438000													347	289					0	0	0.014410	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185509	89185509	+	RNA	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:89185509A>T	ENST00000390243.2	+	0	378																											AAACCAGGACAGCCTCCTAAG	0.537000													26	34					0	0	0.005443	0	0
SCN1A	6323	broad.mit.edu	37	2	166901764	166901764	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:166901764G>C	ENST00000423058.2	-	10	1468	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	SCN1A_ENST00000375405.3_Missense_Mutation_p.S484C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S484C|SCN1A_ENST00000409050.1_Missense_Mutation_p.S484C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	484						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAGGCTTCAGATGAGCTGTC	0.463000													35	142					0	0	0.012213	0	0
LIG4	3981	broad.mit.edu	37	13	108860939	108860939	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:108860939C>A	ENST00000356922.4	-	2	2950	c.2678G>T	c.(2677-2679)tGg>tTg	p.W893L	LIG4_ENST00000442234.1_Missense_Mutation_p.W893L|LIG4_ENST00000405925.1_Missense_Mutation_p.W893L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	893	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCAGTTACCCAACTTTCTTT	0.343000								Non-homologous end-joining					9	26					3.86212e-05	4.15706e-05	0.008291	1	0
CAD	790	broad.mit.edu	37	2	27447744	27447744	+	Splice_Site	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:27447744G>C	ENST00000264705.4	+	10	1548	c.1386_splice	c.e10+1	p.Q462_splice	CAD_ENST00000403525.1_Splice_Site_p.Q462_splice	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	462	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATGTAACCCAGGTATGACTGG	0.517000													71	113					0	0	0.014410	0	0
ATG4A	115201	broad.mit.edu	37	X	107381362	107381362	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:107381362A>T	ENST00000372232.3	+	9	914	c.755A>T	c.(754-756)cAg>cTg	p.Q252L	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.Q228L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	252					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAGATGCCACAGTCTTTAGGG	0.448000													97	45					0	0	0.014410	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260852	107260852	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:107260852T>A	ENST00000282251.5	-	12	1847	c.1820A>T	c.(1819-1821)aAg>aTg	p.K607M	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K607M	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	607							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGTTCCCATCTTTTCATTTTT	0.333000													18	26					0	0	0.007413	0	0
TOLLIP	54472	broad.mit.edu	37	11	1311491	1311491	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:1311491C>T	ENST00000527886.1	-	3	505	c.125G>A	c.(124-126)gGc>gAc	p.G42D	TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Missense_Mutation_p.G83D|TOLLIP_ENST00000542915.1_Missense_Mutation_p.G61D|TOLLIP_ENST00000317204.6_Missense_Mutation_p.G111D|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000525159.1_Intron			Q9H0E2	TOLIP_HUMAN	toll interacting protein	111	C2.|Gln-rich.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		AGAGTCCACGCCTGGGGGCAC	0.617000													10	17					0	0	0.013537	0	0
EYA1	2138	broad.mit.edu	37	8	72128966	72128966	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:72128966C>A	ENST00000340726.3	-	14	1960	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L	EYA1_ENST00000388740.3_Missense_Mutation_p.V408L|EYA1_ENST00000419131.1_Missense_Mutation_p.V406L|EYA1_ENST00000303824.7_Missense_Mutation_p.V435L|EYA1_ENST00000388741.2_Missense_Mutation_p.V407L|EYA1_ENST00000388742.4_Missense_Mutation_p.V441L|EYA1_ENST00000388743.2_Missense_Mutation_p.V440L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	441					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATCTCTTTTACCCGTCTGTAG	0.463000													15	66					3.32936e-07	3.74598e-07	0.006122	1	0
USP31	57478	broad.mit.edu	37	16	23079778	23079778	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:23079778C>T	ENST00000219689.7	-	16	3647	c.3648G>A	c.(3646-3648)aaG>aaA	p.K1216K	USP31_ENST00000567975.1_Silent_p.K509K	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1216	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCTGTCCCTCTTCAAACCAG	0.622000													42	76					0	0	0.010771	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074381	46074381	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:46074381C>T	ENST00000391618.1	-	1	195	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	51	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GTGGATACCCCACACAGGGGC	0.667000													6	34					0	0	0.001984	0	0
RLTPR	146206	broad.mit.edu	37	16	67682620	67682620	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:67682620A>G	ENST00000334583.6	+	16	1800	c.1472A>G	c.(1471-1473)cAc>cGc	p.H491R	RLTPR_ENST00000545661.1_Missense_Mutation_p.H455R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	491										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCAACACGCACCTCCGCGAC	0.682000													3	10					0	0	0.004672	0	0
PRDM9	56979	broad.mit.edu	37	5	23509619	23509619	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:23509619A>G	ENST00000296682.3	+	3	292	c.110A>G	c.(109-111)aAg>aGg	p.K37R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	37	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TACTTCACCAAGGAAGAATGG	0.413000										HNSCC(3;0.000094)			75	108					0	0	0.014410	0	0
COL12A1	1303	broad.mit.edu	37	6	75861710	75861710	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:75861710C>A	ENST00000322507.8	-	20	4182	c.3873G>T	c.(3871-3873)agG>agT	p.R1291S	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1291S|COL12A1_ENST00000345356.6_Missense_Mutation_p.R127S|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1291S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1291	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						CAGCTTGGGTCCTGAAGTTCT	0.433000													43	75					1.8453e-21	2.67312e-21	0.010771	1	0
GRIN2B	2904	broad.mit.edu	37	12	13720197	13720197	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:13720197C>A	ENST00000279593.3	-	12	2569	c.2359_splice	c.e12-1	p.G787_splice		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	787					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCATCTCCCCTGGggaaag	0.468000													16	30					3.45872e-05	3.74216e-05	0.004007	1	0
SNAI1	6615	broad.mit.edu	37	20	48600455	48600455	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:48600455C>T	ENST00000244050.2	+	2	238	c.177C>T	c.(175-177)ctC>ctT	p.L59L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	59					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)			TGCCAATGCTCATCTGGGACT	0.652000													22	53					0	0	0.018920	0	0
ADH1B	125	broad.mit.edu	37	4	100235240	100235240	+	Splice_Site	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:100235240T>A	ENST00000305046.8	-	6	635		c.e6-2		ADH1B_ENST00000394887.3_Splice_Site			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGGGTGACCTGTGTTTTCAG	0.468000													27	126					0	0	0.008361	0	0
STAG2	10735	broad.mit.edu	37	X	123211828	123211828	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:123211828A>G	ENST00000371160.1	+	27	2985	c.2695A>G	c.(2695-2697)Atc>Gtc	p.I899V	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.I899V|STAG2_ENST00000354548.5_Missense_Mutation_p.I830V|STAG2_ENST00000371145.3_Missense_Mutation_p.I899V|STAG2_ENST00000371157.3_Missense_Mutation_p.I899V|STAG2_ENST00000218089.9_Missense_Mutation_p.I899V			Q8N3U4	STAG2_HUMAN	stromal antigen 2	899					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTATGGAGATATCATCAAAGA	0.308000													48	12					0	0	0.014410	0	0
UPF3A	65110	broad.mit.edu	37	13	115064400	115064400	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:115064400A>C	ENST00000375299.3	+	8	988	c.932A>C	c.(931-933)aAg>aCg	p.K311T	UPF3A_ENST00000351487.5_Missense_Mutation_p.K278T|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	311					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GGAGGTGGCAAGCAGGAATCC	0.507000													5	14					0	0	0.014758	0	0
N6AMT1	29104	broad.mit.edu	37	21	30248748	30248748	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:30248748C>A	ENST00000303775.5	-	6	629	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	N6AMT1_ENST00000351429.3_Missense_Mutation_p.G174C	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	202					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GTTTCTTGGCCTGCTTGTCTG	0.368000													20	77					1.00905e-13	1.30413e-13	0.008871	1	0
TRIP12	9320	broad.mit.edu	37	2	230670446	230670446	+	Splice_Site	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:230670446T>A	ENST00000283943.5	-	17	2603	c.2425_splice	c.e17+1	p.S809_splice	TRIP12_ENST00000389045.3_Splice_Site_p.S539_splice|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.S857_splice	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	809	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATGTACTTACTAGTGTTACTA	0.313000													15	27					0	0	0.004990	0	0
UNC79	57578	broad.mit.edu	37	14	94139751	94139751	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:94139751C>A	ENST00000553484.1	+	43	7028	c.6874C>A	c.(6874-6876)Cta>Ata	p.L2292I	UNC79_ENST00000256339.4_Missense_Mutation_p.L2093I|UNC79_ENST00000555664.1_Missense_Mutation_p.L2231I|UNC79_ENST00000393151.2_Missense_Mutation_p.L2270I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2270						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						TCTGCAGGCCCTAAAGCTCAA	0.358000													20	92					3.6726e-16	4.90464e-16	0.021523	1	0
TCERG1	10915	broad.mit.edu	37	5	145838635	145838635	+	Silent	SNP	T	T	C	rs146198634	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:145838635T>C	ENST00000296702.5	+	4	665	c.627T>C	c.(625-627)gcT>gcC	p.A209A	TCERG1_ENST00000394421.2_Silent_p.A209A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	209	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggctcaggctcaggcccagg	0.726000													8	28					0	0	0.010729	0	0
ASB4	51666	broad.mit.edu	37	7	95115331	95115331	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:95115331A>G	ENST00000325885.5	+	1	119	c.48A>G	c.(46-48)ttA>ttG	p.L16L	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Silent_p.L16L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	16					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTGCCAAGTTAGTTAAGAGAA	0.448000													22	14					0	0	0.010504	0	0
NEDD4	4734	broad.mit.edu	37	15	56207620	56207620	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:56207620G>A	ENST00000508342.1	-	1	1709	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	NEDD4_ENST00000338963.2_Silent_p.S470S|NEDD4_ENST00000506154.1_Silent_p.S470S|NEDD4_ENST00000435532.3_Intron			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	470					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GCTTAAGGCTGGATAGACAGG	0.373000													48	63					0	0	0.014410	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718410	103718410	+	Silent	SNP	G	G	T	rs142620512		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:103718410G>T	ENST00000245312.3	-	1	786	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	64					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCCACGGCCGCTTTATGTGC	0.527000													46	61					6.1207e-33	9.67255e-33	0.013114	1	0
SLC6A8	6535	broad.mit.edu	37	X	152956881	152956881	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:152956881G>A	ENST00000253122.5	+	3	993	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G58S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	173					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GGCCACATGTGGCCACACCTG	0.577000													65	19					0	0	0.014410	0	0
GABRA4	2557	broad.mit.edu	37	4	46967191	46967191	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:46967191C>A	ENST00000264318.3	-	8	1912	c.930G>T	c.(928-930)ttG>ttT	p.L310F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	310					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACACTTTGGGCAAAGAATGTC	0.438000													58	97					9.72345e-25	1.46132e-24	0.014410	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188374	140188374	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:140188374G>A	ENST00000530339.1	+	1	1602	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.Q534Q|PCDHA4_ENST00000356878.4_Silent_p.Q534Q|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGTTTCAGGTGACCGCTC	0.652000													44	29					0	0	0.014410	0	0
GPC6	10082	broad.mit.edu	37	13	95050795	95050795	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:95050795G>C	ENST00000377047.4	+	8	1980	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	455						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACATCACTCGGCCTGACACTT	0.468000													32	39					0	0	0.010818	0	0
MALAT1	378938	broad.mit.edu	37	11	65268041	65268041	+	RNA	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:65268041G>C	ENST00000534336.1	+	0	2809					NR_002819.2																						AAGCTAGGAAGAAGGAAGGAG	0.512000													41	64					0	0	0.006999	0	0
CCRL2	9034	broad.mit.edu	37	3	46450106	46450106	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:46450106A>T	ENST00000399036.3	+	2	888	c.536A>T	c.(535-537)tAc>tTc	p.Y179F	ACKR5_ENST00000400882.2_Missense_Mutation_p.Y179F|ACKR5_ENST00000357392.4_Missense_Mutation_p.Y191F|ACKR5_ENST00000400880.3_Missense_Mutation_p.Y179F	NM_003965.4	NP_003956.2																					GACCAGAAATACAAGTGTGCA	0.453000													52	31					0	0	0.014410	0	0
XIRP1	165904	broad.mit.edu	37	3	39229781	39229781	+	Missense_Mutation	SNP	C	C	G	rs145699338	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:39229781C>G	ENST00000340369.3	-	2	1384	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.E386Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	386							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTTTGTTTCAAATAGCCAC	0.592000													90	52					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	114185986	114185986	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:114185986G>T	ENST00000297405.5	-	4	918	c.674C>A	c.(673-675)aCa>aAa	p.T225K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T225K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T225K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T185K|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	225	Sushi 1.					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						CCACGAAGCTGTATTAACTGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			61	35					1.21705e-43	1.99589e-43	0.014410	1	0
MIR518E	574487	broad.mit.edu	37	19	54233176	54233176	+	RNA	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:54233176G>A	ENST00000385252.1	+	0	85					NR_030209.1																						TTAACGCTTTGAGAAAAGCAA	0.423000													15	67					0	0	0.003163	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302220	128302220	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:128302220C>T	ENST00000262462.4	+	1	1400	c.390C>T	c.(388-390)tgC>tgT	p.C130C	SLC27A6_ENST00000506176.1_Silent_p.C130C|SLC27A6_ENST00000395266.1_Silent_p.C130C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	130					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCTGGGCTGCGTGGTGGCCT	0.587000													14	5					0	0	0.016723	0	0
PWP1	11137	broad.mit.edu	37	12	108082452	108082452	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:108082452G>C	ENST00000412830.3	+	3	360	c.192G>C	c.(190-192)caG>caC	p.Q64H	PWP1_ENST00000541166.1_Missense_Mutation_p.Q2H	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	64					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATGGCATGCAGAGTGCACGCA	0.527000													38	26					0	0	0.005524	0	0
ELTD1	64123	broad.mit.edu	37	1	79383546	79383546	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:79383546G>T	ENST00000370742.3	-	11	1714	c.1651C>A	c.(1651-1653)Cta>Ata	p.L551I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	551					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTGTATCCTAGTGCTGCCGAA	0.358000													33	112					9.04072e-19	1.26231e-18	0.015359	1	0
TEX13A	56157	broad.mit.edu	37	X	104464181	104464181	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:104464181G>T	ENST00000372578.3	-	3	808	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	TEX13A_ENST00000413579.1_Missense_Mutation_p.A232D|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L233M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CATGGAGGCAGCCCTGGCCTC	0.617000													16	5					6.31663e-08	7.23188e-08	0.003163	1	0
LENG8	114823	broad.mit.edu	37	19	54969281	54969281	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:54969281G>T	ENST00000326764.5	+	14	2381		c.e14-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CTGCCTTCCAGGGTGACCATG	0.617000													64	40					1.65906e-26	2.53724e-26	0.014410	1	0
NLRP12	91662	broad.mit.edu	37	19	54312974	54312974	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:54312974G>T	ENST00000324134.6	-	3	2107	c.1939C>A	c.(1939-1941)Cac>Aac	p.H647N	NLRP12_ENST00000391773.1_Missense_Mutation_p.H647N|NLRP12_ENST00000535162.1_Missense_Mutation_p.H647N|NLRP12_ENST00000354278.3_Missense_Mutation_p.H647N|NLRP12_ENST00000351894.4_Missense_Mutation_p.H647N|NLRP12_ENST00000391772.1_Missense_Mutation_p.H647N|NLRP12_ENST00000391775.3_Missense_Mutation_p.H647N|NLRP12_ENST00000345770.5_Missense_Mutation_p.H647N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	647					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGACCATGTGCTCCATCTTG	0.602000													41	31					1.07121e-22	1.57584e-22	0.006999	1	0
PCDH9	5101	broad.mit.edu	37	13	67205540	67205540	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:67205540G>T	ENST00000544246.1	-	4	3833	c.3142C>A	c.(3142-3144)Cag>Aag	p.Q1048K	PCDH9_ENST00000377865.2_Missense_Mutation_p.Q1048K|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q1014K|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q1014K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1048					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACACGGCGCTGCGACTACAAA	0.483000													26	22					4.72057e-08	5.42242e-08	0.021523	1	0
KDM2A	22992	broad.mit.edu	37	11	66948816	66948816	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:66948816G>T	ENST00000529006.2	+	4	653	c.207G>T	c.(205-207)cgG>cgT	p.R69R	KDM2A_ENST00000398645.2_Silent_p.R69R	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ATATTCAGCGGGGTGGCTTGA	0.368000													9	17					9.70103e-10	1.15373e-09	0.008291	1	0
NAV3	89795	broad.mit.edu	37	12	78542637	78542637	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:78542637C>A	ENST00000397909.2	+	22	4896	c.4723C>A	c.(4723-4725)Cgg>Agg	p.R1575R	NAV3_ENST00000228327.6_Silent_p.R1575R|NAV3_ENST00000266692.7_Silent_p.R1398R|NAV3_ENST00000536525.2_Silent_p.R1575R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1575G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCATAAACTGCGGAGAGAGCT	0.333000										HNSCC(70;0.22)			9	18					3.86212e-05	4.15706e-05	0.008291	1	0
PDE3B	5140	broad.mit.edu	37	11	14825594	14825594	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:14825594C>G	ENST00000282096.4	+	5	1873	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G	PDE3B_ENST00000455098.2_Missense_Mutation_p.A456G	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	507					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCAGAAGAGCTGGTAAGAAA	0.358000													16	9					0	0	0.003163	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	50					0	0	0.009096	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199914	26199914	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:26199914A>T	ENST00000359985.1	+	1	167	c.128A>T	c.(127-129)tAc>tTc	p.Y43F		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	43					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGTACGTGTACAAGGTGCTA	0.552000													206	73					0	0	0.014410	0	0
MAP6	4135	broad.mit.edu	37	11	75379385	75379385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:75379385G>T	ENST00000434603.2	-	1	94	c.30C>A	c.(28-30)tgC>tgA	p.C10*	MAP6_ENST00000526740.1_Intron|MAP6_ENST00000304771.3_Nonsense_Mutation_p.C10*	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	10						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGCGATGCAGCAGGCCCTCG	0.582000													24	56					2.21704e-12	2.80627e-12	0.016522	1	0
REG3A	5068	broad.mit.edu	37	2	79385793	79385793	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:79385793G>T	ENST00000393878.1	-	2	433	c.179C>A	c.(178-180)tCc>tAc	p.S60Y	REG3A_ENST00000409839.3_Missense_Mutation_p.S60Y|REG3A_ENST00000305165.2_Missense_Mutation_p.S60Y|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	60	C-type lectin.				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						ATCTGTCCAGGATTTTGGTGA	0.552000													27	56					3.73808e-20	5.37028e-20	0.005443	1	0
KAZN	23254	broad.mit.edu	37	1	15392292	15392292	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:15392292G>A	ENST00000422387.2	+	8	1546	c.1265G>A	c.(1264-1266)tGa>tAa	p.*422*	KAZN_ENST00000400797.3_Silent_p.*328*|KAZN_ENST00000376030.2_Intron|KAZN_ENST00000361144.5_Silent_p.*416*|KAZN_ENST00000503743.1_Silent_p.*422*|KAZN_ENST00000400798.2_Silent_p.*328*	NM_015209.2	NP_056024.1	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	0					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCGGACTGGTGATACGCGCTC	0.667000													65	26					0	0	0.014410	0	0
EPRS	2058	broad.mit.edu	37	1	220161972	220161972	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:220161972C>A	ENST00000366923.3	-	19	3004	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	912	3 X 57 AA approximate repeats.|WHEP-TRS 3.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AACTACTTCCCCTTGAGAAGC	0.368000													15	50					1.05317e-09	1.24825e-09	0.020292	1	0
MOCS1	4337	broad.mit.edu	37	6	39895315	39895315	+	Translation_Start_Site	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:39895315C>T	ENST00000373186.4	-	1	140	c.3G>A	c.(1-3)atG>atA	p.M1I	MOCS1_ENST00000425303.2_Start_Codon_SNP_p.M1I|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000373175.4_Start_Codon_SNP_p.M1I|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000340692.5_Intron|MOCS1_ENST00000432280.2_Start_Codon_SNP_p.M1I	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	0	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AACTCTTCCACATGTTTGGGC	0.572000													6	21					0	0	0.003080	0	0
TP53I13	90313	broad.mit.edu	37	17	27899013	27899013	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:27899013G>A	ENST00000301057.7	+	5	566	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	151						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGCCTTTCAGGGCCTGCTCC	0.637000													33	12					0	0	0.017118	0	0
GRIA2	2891	broad.mit.edu	37	4	158281227	158281227	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:158281227C>A	ENST00000296526.7	+	13	2548	c.2223C>A	c.(2221-2223)acC>acA	p.T741T	GRIA2_ENST00000393815.2_Silent_p.T694T|GRIA2_ENST00000507898.1_Silent_p.T694T|GRIA2_ENST00000264426.9_Silent_p.T741T|GRIA2_ENST00000449365.1_Silent_p.T694T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	741					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTTGCGACACCATGAAAGTTG	0.468000													17	30					5.3912e-06	5.96924e-06	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179614607	179614607	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179614607C>A	ENST00000360870.5	-	46	12742	c.12520G>T	c.(12520-12522)Gat>Tat	p.D4174Y	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3518							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATGGAATCCCCTTCTCTA	0.373000													28	21					2.12542e-12	2.69685e-12	0.006320	1	0
NRP2	8828	broad.mit.edu	37	2	206659563	206659563	+	Silent	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:206659563G>C	ENST00000360409.3	+	17	3368	c.2577G>C	c.(2575-2577)ctG>ctC	p.L859L	NRP2_ENST00000540178.1_Silent_p.L854L|NRP2_ENST00000412873.2_Silent_p.L837L|NRP2_ENST00000540841.1_Silent_p.L837L|NRP2_ENST00000357785.5_Silent_p.L854L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	859					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGAGCTGGCTGTACACCCTGG	0.562000													28	47					0	0	0.006320	0	0
PTPRC	5788	broad.mit.edu	37	1	198721885	198721885	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:198721885C>T	ENST00000367376.2	+	31	3658	c.3487C>T	c.(3487-3489)Cta>Tta	p.L1163L	PTPRC_ENST00000442510.2_Silent_p.L1165L|PTPRC_ENST00000352140.3_Silent_p.L1115L|PTPRC_ENST00000348564.6_Silent_p.L1004L|PTPRC_ENST00000594404.1_Silent_p.L1002L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1163	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAGTACACCTCTACTCATTCA	0.418000													8	50					0	0	0.006214	0	0
BRDT	676	broad.mit.edu	37	1	92469992	92469992	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:92469992G>A	ENST00000370389.2	+	17	3115	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	BRDT_ENST00000394530.3_Missense_Mutation_p.D758N|BRDT_ENST00000362005.3_Missense_Mutation_p.D804N|BRDT_ENST00000399546.2_Missense_Mutation_p.D804N|BRDT_ENST00000402388.1_Missense_Mutation_p.D804N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAGAATGCAGATTCATGGAA	0.328000													25	70					0	0	0.018920	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778498	5778498	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:5778498C>A	ENST00000381624.3	+	22	2269	c.2208C>A	c.(2206-2208)tcC>tcA	p.S736S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	736						integral to membrane											TCCTGGGGTCCGTTTGGCTGG	0.567000													55	26					1.57914e-17	2.1418e-17	0.014410	1	0
ACAD10	80724	broad.mit.edu	37	12	112184050	112184050	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:112184050C>T	ENST00000455480.2	+	15	2488	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L	ACAD10_ENST00000392636.2_Silent_p.L342L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.L740L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	740							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATATGCACATCTGTGTGAGCT	0.473000													40	52					0	0	0.008740	0	0
FNBP4	23360	broad.mit.edu	37	11	47765513	47765513	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:47765513C>G	ENST00000263773.5	-	8	1460	c.1448G>C	c.(1447-1449)gGa>gCa	p.G483A	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	483										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCAGTTTCTCCATTTTCTGG	0.378000													16	26					0	0	0.004990	0	0
KRT74	121391	broad.mit.edu	37	12	52960812	52960812	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:52960812T>C	ENST00000549343.1	-	10	1611	c.1573A>G	c.(1573-1575)Aag>Gag	p.K525E	KRT74_ENST00000305620.2_Missense_Mutation_p.K511E			Q7RTS7	K2C74_HUMAN	keratin 74	511	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGGTGTCCTTGAGGTCTCCC	0.652000													50	78					0	0	0.014410	0	0
ZNF483	158399	broad.mit.edu	37	9	114305100	114305100	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:114305100C>T	ENST00000309235.5	+	6	2043	c.1885C>T	c.(1885-1887)Cat>Tat	p.H629Y	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	629					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCAAAGACTTCATTCAGGAGA	0.398000													36	13					0	0	0.013726	0	0
MYH6	4624	broad.mit.edu	37	14	23857516	23857516	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:23857516C>T	ENST00000405093.3	-	30	4277	c.4207G>A	c.(4207-4209)Gag>Aag	p.E1403K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1403K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1403					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACGGCCTCCTCGGCATCCTGC	0.592000													31	27					0	0	0.012213	0	0
TNS1	7145	broad.mit.edu	37	2	218700815	218700815	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:218700815C>A	ENST00000171887.4	-	18	3204	c.2752G>T	c.(2752-2754)Gtt>Ttt	p.V918F	TNS1_ENST00000419504.1_Missense_Mutation_p.V918F|TNS1_ENST00000430930.1_Missense_Mutation_p.V918F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	918						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGAGCGAACCCCAGGGCTA	0.627000													20	54					8.34094e-07	9.34436e-07	0.008871	1	0
FERMT3	83706	broad.mit.edu	37	11	63974906	63974906	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:63974906G>C	ENST00000279227.5	+	2	165	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.E24Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	24					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTTTGTGGGAGAGGAGGACCC	0.627000													16	60					0	0	0.004007	0	0
DOK7	285489	broad.mit.edu	37	4	3478183	3478183	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:3478183C>A	ENST00000340083.5	+	4	511	c.446C>A	c.(445-447)aCg>aAg	p.T149K	DOK7_ENST00000507039.1_Missense_Mutation_p.T149K|DOK7_ENST00000389653.2_Missense_Mutation_p.T149K	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	149	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGGCTGTCACGGGGCAGTGG	0.627000													35	57					5.73237e-09	6.68029e-09	0.006230	1	0
BPIFB6	128859	broad.mit.edu	37	20	31624324	31624324	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr20:31624324C>T	ENST00000349552.1	+	7	651	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	217						extracellular region	lipid binding										CAGCCAGCTACATCCAACTGG	0.577000													77	115					0	0	0.014410	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24242198	24242198	+	Silent	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:24242198T>C	ENST00000382263.3	+	8	1000	c.816T>C	c.(814-816)caT>caC	p.H272H	TNFRSF19_ENST00000403372.2_Silent_p.H140H|TNFRSF19_ENST00000382258.4_Silent_p.H272H|TNFRSF19_ENST00000248484.4_Silent_p.H272H	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	272					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTGGGGTGCATTCTGCAGCCA	0.522000													3	25					0	0	0.004672	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320253	179320253	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:179320253C>A	ENST00000356834.3	-	5	829	c.792G>T	c.(790-792)ctG>ctT	p.L264L	TBC1D9B_ENST00000355235.3_Silent_p.L264L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	264						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)			TGGGCCTAGGCAGGGCCTTGT	0.637000													23	12					1.87028e-06	2.07964e-06	0.012319	1	0
OR14C36	127066	broad.mit.edu	37	1	248512378	248512378	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:248512378T>C	ENST00000317861.1	+	1	302	c.302T>C	c.(301-303)cTc>cCc	p.L101P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGGTCTTCCTCGTGGTTTTT	0.488000													10	45					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179580249	179580249	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179580249G>T	ENST00000589042.1	-	89	26116	c.25892C>A	c.(25891-25893)gCc>gAc	p.A8631D	TTN_ENST00000342992.6_Missense_Mutation_p.A7387D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A8314D|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8314	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCTGCTGGCACTGCCTGC	0.483000													35	27					4.14481e-20	5.9464e-20	0.006230	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346572	70346572	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:70346572G>A	ENST00000305107.6	-	6	1413	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P320L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	456					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCGATCAAGGGGCTTCACTGG	0.418000													44	83					0	0	0.007835	0	0
RBMS3	27303	broad.mit.edu	37	3	29941231	29941231	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:29941231C>T	ENST00000434693.2	+	10	1621	c.921C>T	c.(919-921)taC>taT	p.Y307Y	RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000383767.2_Silent_p.Y308Y|RBMS3_ENST00000273139.9_Silent_p.Y308Y|RBMS3_ENST00000456853.1_Silent_p.Y321Y|RBMS3_ENST00000396583.3_Silent_p.Y321Y|RBMS3_ENST00000452462.1_Silent_p.Y308Y	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	308						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATCCGCCATACGTTATGCAAC	0.408000													14	57					0	0	0.003163	0	0
CCDC88A	55704	broad.mit.edu	37	2	55529052	55529052	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:55529052T>G	ENST00000436346.1	-	27	5469	c.4628A>C	c.(4627-4629)aAc>aCc	p.N1543T	CCDC88A_ENST00000336838.6_Missense_Mutation_p.N1542T|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000413716.2_Missense_Mutation_p.N1542T|CCDC88A_ENST00000263630.8_Missense_Mutation_p.N1515T	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1543					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCAGAAGAGTTGACAGTTGA	0.398000													21	81					0	0	0.018920	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99215370	99215370	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:99215370C>G	ENST00000370846.4	+	6	730	c.568C>G	c.(568-570)Cca>Gca	p.P190A	ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000495735.1_Intron|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000393760.1_Intron|ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370854.3_Intron			Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	0					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CATACTTCCTCCAGCCCTCTC	0.468000													74	138					0	0	0.014410	0	0
EYA4	2070	broad.mit.edu	37	6	133595853	133595853	+	Splice_Site	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:133595853G>T	ENST00000367895.5	+	2	399		c.e2-1		EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000430974.2_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTTGTTTTAGATAGTCATTT	0.343000													9	26					3.86212e-05	4.15706e-05	0.008291	1	0
ZNF551	90233	broad.mit.edu	37	19	58199621	58199621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:58199621C>T	ENST00000282296.5	+	3	2163	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.R644*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAACCTCATTCGACATCGGAG	0.423000													62	126					0	0	0.014410	0	0
ACSL6	23305	broad.mit.edu	37	5	131329810	131329810	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:131329810C>A	ENST00000379264.2	-	2	292	c.184G>T	c.(184-186)Gct>Tct	p.A62S	ACSL6_ENST00000296869.4_Missense_Mutation_p.A62S|ACSL6_ENST00000379246.1_Missense_Mutation_p.A48S|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379272.2_Missense_Mutation_p.A37S|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000543479.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379240.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379249.3_Missense_Mutation_p.A37S	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	37					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGATGGCAGCCAGGGCACCC	0.582000													24	4					2.44723e-14	3.20259e-14	0.004656	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813294	106813294	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:106813294C>G	ENST00000407775.2	+	8	1234	c.984C>G	c.(982-984)ttC>ttG	p.F328L	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F196L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F59L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F196L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	328					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAAGAATTCCTGCCCCCTG	0.428000													70	70					0	0	0.014410	0	0
ASNS	440	broad.mit.edu	37	7	97493702	97493702	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:97493702C>A	ENST00000175506.4	-	5	884	c.356G>T	c.(355-357)gGt>gTt	p.G119V	ASNS_ENST00000444334.1_Missense_Mutation_p.G98V|ASNS_ENST00000422745.1_Missense_Mutation_p.G98V|ASNS_ENST00000455086.1_Missense_Mutation_p.G36V|ASNS_ENST00000394309.3_Missense_Mutation_p.G119V|ASNS_ENST00000394308.3_Missense_Mutation_p.G119V|ASNS_ENST00000437628.1_Missense_Mutation_p.G36V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	119	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCAAACACACCATCCAACAT	0.368000													27	12					7.07758e-08	8.09421e-08	0.004656	1	0
FGD4	121512	broad.mit.edu	37	12	32735365	32735365	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:32735365G>A	ENST00000427716.2	+	4	988	c.564G>A	c.(562-564)ctG>ctA	p.L188L	FGD4_ENST00000534526.2_Silent_p.L325L|FGD4_ENST00000472289.1_Silent_p.L188L|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Silent_p.L95L|FGD4_ENST00000531134.1_Silent_p.L273L|FGD4_ENST00000525053.1_Silent_p.L300L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	188					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGCCCTCTGGAACTGGAGC	0.512000													19	27					0	0	0.008871	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634696	122634696	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:122634696C>A	ENST00000195173.4	-	13	2033	c.1730G>T	c.(1729-1731)gGg>gTg	p.G577V	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G631V|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G577V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	577					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGCTGCTTCCCGTCCCAGCC	0.622000													24	20					9.57634e-11	1.15872e-10	0.018920	1	0
TSHR	7253	broad.mit.edu	37	14	81610251	81610251	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:81610251G>A	ENST00000541158.2	+	11	2171	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D617N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	617					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Y613_K621del(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAACCCAGGGGACAAAGATAC	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						48	134					0	0	0.014410	0	0
ACVR2A	92	broad.mit.edu	37	2	148684648	148684648	+	Splice_Site	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:148684648G>C	ENST00000241416.7	+	11	1983		c.e11-1		ACVR2A_ENST00000495775.1_Splice_Site|ACVR2A_ENST00000404590.1_Splice_Site|ACVR2A_ENST00000535787.1_Splice_Site	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA						activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TCTCCTTTTAGGGAATGGCAA	0.388000													35	21					0	0	0.017118	0	0
FRG2B	441581	broad.mit.edu	37	10	135438974	135438974	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:135438974T>A	ENST00000443774.1	-	4	518	c.469A>T	c.(469-471)Agc>Tgc	p.S157C	FRG2B_ENST00000425520.1_Missense_Mutation_p.S156C			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	156						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCCGCTTGCTGCGCCCAGTG	0.522000													9	183					0	0	0.016723	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158057	26158057	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:26158057G>C	ENST00000325250.1	+	2	1142	c.955G>C	c.(955-957)Gca>Cca	p.A319P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	319							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCAGAGCTGCAGCCAGGGC	0.512000													7	4					0	0	0.001984	0	0
CCKBR	887	broad.mit.edu	37	11	6291459	6291459	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:6291459C>A	ENST00000525462.1	+	3	548	c.545C>A	c.(544-546)tCc>tAc	p.S182Y	CCKBR_ENST00000532715.1_Missense_Mutation_p.S98Y|CCKBR_ENST00000334619.2_Missense_Mutation_p.S182Y|CCKBR_ENST00000525014.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCTGCTGTCCGGACTACTC	0.672000													23	13					2.21704e-12	2.80627e-12	0.016522	1	0
REG3A	5068	broad.mit.edu	37	2	79385792	79385792	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:79385792G>T	ENST00000393878.1	-	2	434	c.180C>A	c.(178-180)tcC>tcA	p.S60S	REG3A_ENST00000409839.3_Silent_p.S60S|REG3A_ENST00000305165.2_Silent_p.S60S|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	60	C-type lectin.				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						CATCTGTCCAGGATTTTGGTG	0.547000													25	57					3.73808e-20	5.37028e-20	0.005443	1	0
MNDA	4332	broad.mit.edu	37	1	158815577	158815577	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:158815577A>T	ENST00000368141.4	+	5	1032	c.771A>T	c.(769-771)aaA>aaT	p.K257N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	257	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAACTTGAAAGAGAAATTTG	0.368000													15	62					0	0	0.003163	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488241	31488241	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:31488241C>A	ENST00000394863.3	+	10	1159	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	TGFB1I1_ENST00000567607.1_Silent_p.A326A|TGFB1I1_ENST00000361773.3_Silent_p.A326A|TGFB1I1_ENST00000394858.2_Silent_p.A326A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	343	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGCTGTTCGCCCCGCGCTGCC	0.677000													4	9					0.00909568	0.00931905	0.009096	1	0
SH3TC1	54436	broad.mit.edu	37	4	8226929	8226929	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:8226929A>T	ENST00000539824.1	+	11	1417	c.1043A>T	c.(1042-1044)cAg>cTg	p.Q348L	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.Q424L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	424	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGACCGAGCAGCCGCAGGAA	0.577000													9	19					0	0	0.006214	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279531	217279531	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:217279531G>C	ENST00000357276.4	+	3	434	c.104G>C	c.(103-105)aGg>aCg	p.R35T	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R35T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	35					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCATCAGAGGACTAGCTCG	0.522000									Schimke Immuno-Osseous Dysplasia				38	107					0	0	0.007835	0	0
CARD6	84674	broad.mit.edu	37	5	40853054	40853054	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:40853054G>C	ENST00000254691.5	+	3	1819	c.1620G>C	c.(1618-1620)tgG>tgC	p.W540C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	540					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGCTTTTGGACTCAGTTTG	0.398000													56	102					0	0	0.014410	0	0
NPY2R	4887	broad.mit.edu	37	4	156136063	156136063	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:156136063C>A	ENST00000329476.3	+	2	1461	c.972C>A	c.(970-972)ctC>ctA	p.L324L	NPY2R_ENST00000506608.1_Silent_p.L324L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	324					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ATCCCCTTCTCTATGGCTGGA	0.512000													28	47					7.38237e-10	8.79978e-10	0.006320	1	0
DENND3	22898	broad.mit.edu	37	8	142199130	142199130	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:142199130G>A	ENST00000519811.1	+	19	3200	c.3130G>A	c.(3130-3132)Gaa>Aaa	p.E1044K	DENND3_ENST00000424248.1_Missense_Mutation_p.E912K|DENND3_ENST00000523308.1_Missense_Mutation_p.E14K|DENND3_ENST00000262585.2_Missense_Mutation_p.E964K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	964										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTGGCTCGGAAGACTCCGT	0.542000													8	17					0	0	0.004482	0	0
IL3RA	3563	broad.mit.edu	37	X	1499970	1499970	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:1499970C>G	ENST00000331035.4	+	11	1384	c.1035C>G	c.(1033-1035)atC>atG	p.I345M	IL3RA_ENST00000381469.2_Missense_Mutation_p.I267M	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	345						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGACCCCATCGGTGACAGCT	0.567000													37	118					0	0	0.009718	0	0
UNC79	57578	broad.mit.edu	37	14	94007066	94007066	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:94007066G>T	ENST00000553484.1	+	13	1567	c.1413G>T	c.(1411-1413)cgG>cgT	p.R471R	UNC79_ENST00000256339.4_Silent_p.R294R|UNC79_ENST00000555664.1_Silent_p.R471R|UNC79_ENST00000393151.2_Silent_p.R471R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	471						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						ACCGGCGGCGGCAGCTGGGCC	0.498000													21	62					1.50039e-11	1.85196e-11	0.012319	1	0
TRIM29	23650	broad.mit.edu	37	11	119983128	119983128	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:119983128G>T	ENST00000341846.5	-	9	2182	c.1761C>A	c.(1759-1761)gcC>gcA	p.A587A	TRIM29_ENST00000529044.1_Silent_p.A326A|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Silent_p.A153A|TRIM29_ENST00000541857.1_Silent_p.A320A|TRIM29_ENST00000528870.1_Silent_p.A120A	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	587					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GAGCTCATGGGGCTTCGTTGG	0.587000													33	39					6.97489e-18	9.53448e-18	0.021022	1	0
DNTT	1791	broad.mit.edu	37	10	98084037	98084037	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:98084037A>T	ENST00000419175.1	+	6	935	c.765A>T	c.(763-765)gtA>gtT	p.V255V	DNTT_ENST00000371174.2_Silent_p.V255V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	255	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TTACTTCTGTATTTGGAGTGG	0.428000													61	73					0	0	0.014410	0	0
CCT6A	908	broad.mit.edu	37	7	56125754	56125754	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:56125754C>T	ENST00000275603.4	+	6	902	c.683C>T	c.(682-684)gCa>gTa	p.A228V	CCT6A_ENST00000335503.3_Missense_Mutation_p.A183V|CCT6A_ENST00000540286.1_Missense_Mutation_p.A197V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	228					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGAGGATGCATACATCCTC	0.408000													28	33					0	0	0.006320	0	0
HTR2B	3357	broad.mit.edu	37	2	231973423	231973423	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:231973423C>T	ENST00000258400.3	-	4	1766	c.1254G>A	c.(1252-1254)cgG>cgA	p.R418R	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	418					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CCATTGGATTCCGGAAGTAGA	0.438000													22	53					0	0	0.010504	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:7576852C>A	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)			34	13					1.99505e-19	2.83107e-19	0.012213	1	0
MVK	4598	broad.mit.edu	37	12	110017675	110017675	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:110017675G>A	ENST00000228510.3	+	4	371	c.295G>A	c.(295-297)Gac>Aac	p.D99N	MVK_ENST00000535044.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.D99N|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.D99N|MVK_ENST00000541384.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	99					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AGGCTTGCCTGACGACTGTGC	0.547000													11	28					0	0	0.013537	0	0
WDR1	9948	broad.mit.edu	37	4	10090303	10090303	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:10090303G>A	ENST00000382452.2	-	6	903	c.621C>T	c.(619-621)gcC>gcT	p.A207A	WDR1_ENST00000382451.2_Silent_p.A67A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.A207A|WDR1_ENST00000502702.1_Silent_p.A67A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	207					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGTCAGCACTGGCTGTGGCAA	0.572000													8	8					0	0	0.003080	0	0
MTSS1L	92154	broad.mit.edu	37	16	70711761	70711761	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:70711761C>A	ENST00000338779.6	-	9	940	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	222	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGATGATGCCCTGCAGGTGGG	0.657000													5	4					1.23904e-05	1.35321e-05	0.014758	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810871	106810871	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:106810871C>G	ENST00000526355.1	-	4	989	c.521G>C	c.(520-522)gGt>gCt	p.G174A	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G174A|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G174A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	174					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAACTCTTCACCAAATCTTTT	0.333000													31	37					0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179597025	179597025	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:179597025C>A	ENST00000589042.1	-	57	16895	c.16671G>T	c.(16669-16671)aaG>aaT	p.K5557N	TTN_ENST00000342992.6_Missense_Mutation_p.K4313N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5240N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5240	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCATCTCCCTTCTTTAACA	0.398000													81	60					1.71382e-40	2.78429e-40	0.014410	1	0
MIR3654	100500804	broad.mit.edu	37	11	62356654	62356654	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:62356654C>G	ENST00000496634.2	-	2	167	c.122G>C	c.(121-123)cGg>cCg	p.R41P	TUT1_ENST00000308436.7_Missense_Mutation_p.R79P|TUT1_ENST00000476907.1_Missense_Mutation_p.R41P																NS(1)	1						TACCAGGTGCCGGTGCTTTCT	0.537000													20	35					0	0	0.008871	0	0
CRB2	286204	broad.mit.edu	37	9	126129602	126129602	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:126129602G>T	ENST00000373631.3	+	5	907	c.906G>T	c.(904-906)gcG>gcT	p.A302A	CRB2_ENST00000359999.3_Silent_p.A302A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	302	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCATGCTGCGGGTTTCCTGT	0.687000													20	8					1.10923e-09	1.3132e-09	0.016522	1	0
ARAP2	116984	broad.mit.edu	37	4	36093643	36093643	+	Splice_Site	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:36093643C>A	ENST00000303965.4	-	28	4775		c.e28-1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTACTCCGGTCTGTAAAGTAC	0.313000													50	92					1.57914e-17	2.1418e-17	0.014410	1	0
TPR	7175	broad.mit.edu	37	1	186316471	186316471	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:186316471G>C	ENST00000367478.3	-	22	3192	c.2896C>G	c.(2896-2898)Caa>Gaa	p.Q966E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	966					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATTGCTTGATATTGTTCC	0.363000			T	NTRK1	papillary thyroid								46	70					0	0	0.013114	0	0
FZD1	8321	broad.mit.edu	37	7	90895395	90895395	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:90895395G>A	ENST00000287934.2	+	1	1613	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	400					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCAAGAAGGAGGGCTGCACCA	0.602000													39	20					0	0	0.006230	0	0
DPYS	1807	broad.mit.edu	37	8	105393488	105393488	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:105393488G>T	ENST00000351513.2	-	9	1630	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	500					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGATTTCAGTGTGGCGACT	0.493000													46	43					1.57945e-13	2.03379e-13	0.011902	1	0
DMTN	2039	broad.mit.edu	37	8	21931341	21931341	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:21931341A>G	ENST00000358242.3	+	10	1323	c.830A>G	c.(829-831)cAt>cGt	p.H277R	DMTN_ENST00000432128.1_Missense_Mutation_p.H277R|DMTN_ENST00000443491.2_Missense_Mutation_p.H252R|DMTN_ENST00000415253.1_Missense_Mutation_p.H277R|DMTN_ENST00000523782.2_Missense_Mutation_p.H252R|DMTN_ENST00000265800.5_Missense_Mutation_p.H277R|DMTN_ENST00000523266.1_Missense_Mutation_p.H277R|DMTN_ENST00000381470.3_Missense_Mutation_p.H277R|DMTN_ENST00000517600.1_Missense_Mutation_p.H237R|DMTN_ENST00000519907.1_Missense_Mutation_p.H277R					dematin actin binding protein																		ACACCCTTCCATACCTGTGAG	0.517000													7	9					0	0	0.001984	0	0
SPEN	23013	broad.mit.edu	37	1	16262537	16262537	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:16262537C>T	ENST00000375759.3	+	11	10006	c.9802C>T	c.(9802-9804)Cgt>Tgt	p.R3268C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3268	Pro-rich.				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)		TGGTGAGGCCCGTATCCTCAC	0.657000													95	29					0	0	0.014410	0	0
DCPS	28960	broad.mit.edu	37	11	126201331	126201331	+	Silent	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:126201331A>T	ENST00000263579.4	+	3	737	c.408A>T	c.(406-408)acA>acT	p.T136T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	136					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ACCCTGCCACAGAGAAACACC	0.552000													47	160					0	0	0.014410	0	0
DNAJB13	374407	broad.mit.edu	37	11	73670600	73670600	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:73670600G>A	ENST00000339764.1	+	3	985	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	78					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GGATTCCTTTGGAGTTTGGAT	0.507000													24	49					0	0	0.005443	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171805	57171805	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:57171805C>T	ENST00000371244.4	+	8	1400	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	445					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGAAAAAATCCAGTGACTGGC	0.318000													15	39					0	0	0.003163	0	0
FZD8	8325	broad.mit.edu	37	10	35928568	35928568	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:35928568C>T	ENST00000374694.1	-	1	1794	c.1790G>A	c.(1789-1791)gGc>gAc	p.G597D		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	597					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGAGGTGATGCCCACCACTAG	0.687000													9	48					0	0	0.010729	0	0
CSPG4	1464	broad.mit.edu	37	15	75979977	75979977	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:75979977G>T	ENST00000308508.5	-	3	3521	c.3429C>A	c.(3427-3429)ggC>ggA	p.G1143G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1143	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGTCGATGGTGCCCTGGCCTC	0.667000													50	77					5.82388e-19	8.1644e-19	0.014410	1	0
CCAR1	55749	broad.mit.edu	37	10	70513758	70513758	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:70513758A>T	ENST00000265872.6	+	11	1387	c.1268A>T	c.(1267-1269)cAc>cTc	p.H423L	CCAR1_ENST00000543719.1_Missense_Mutation_p.H408L|CCAR1_ENST00000535016.1_Missense_Mutation_p.H408L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	423					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						TATGTAATGCACAGAGAAGTA	0.383000													54	73					0	0	0.014410	0	0
KMT2A	4297	broad.mit.edu	37	11	118390685	118390685	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:118390685G>C	ENST00000534358.1	+	33	11358	c.11335G>C	c.(11335-11337)Gac>Cac	p.D3779H	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.D3776H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D3738H|RP11-770J1.3_ENST00000554407.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTCAGCATTTGACATGTTTAA	0.403000													11	30					0	0	0.013537	0	0
DSCAM	1826	broad.mit.edu	37	21	41648175	41648175	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:41648175C>A	ENST00000400454.1	-	11	2682	c.2205G>T	c.(2203-2205)caG>caT	p.Q735H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	735	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCAATTGGCTGGAACTGGG	0.493000													14	27					4.7546e-09	5.55948e-09	0.004007	1	0
REV3L	5980	broad.mit.edu	37	6	111678278	111678278	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:111678278C>T	ENST00000435970.1	-	20	7705	c.6889G>A	c.(6889-6891)Gaa>Aaa	p.E2297K	REV3L_ENST00000368805.1_Missense_Mutation_p.E2375K|REV3L_ENST00000368802.3_Missense_Mutation_p.E2375K|REV3L_ENST00000358835.3_Missense_Mutation_p.E2375K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2375					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)		TAGGTGACTTCGAGTCCTGTA	0.274000								DNA polymerases (catalytic subunits)					24	70					0	0	0.005443	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063342	76063342	+	Silent	SNP	A	A	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:76063342A>G	ENST00000260045.3	-	5	957	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	284					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TATGAGATTCATCAACAAACC	0.423000													28	31					0	0	0.012213	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210819	28210819	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr21:28210819C>A	ENST00000284984.2	-	8	2597	c.2143G>T	c.(2143-2145)Ggt>Tgt	p.G715C		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	715	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCGCAAACACCACATTTATCA	0.383000													15	54					2.61681e-11	3.19969e-11	0.020292	1	0
DDX43	55510	broad.mit.edu	37	6	74104725	74104725	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:74104725G>A	ENST00000370336.4	+	1	255	c.97G>A	c.(97-99)Gag>Aag	p.E33K	DDX43_ENST00000539829.1_Missense_Mutation_p.E33K|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	33						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAGGCCGGCGGAGGAGTTGAA	0.642000													49	57					0	0	0.014410	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124734	26124734	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:26124734G>A	ENST00000602637.1	+	1	304	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E92K			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCGCAACGACGAGGAGCTCAA	0.622000													113	41					0	0	0.014410	0	0
SLA	6503	broad.mit.edu	37	8	134062207	134062207	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:134062207G>T	ENST00000338087.5	-	5	1007	c.188C>A	c.(187-189)tCt>tAt	p.S63Y	SLA_ENST00000524345.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.S80Y|SLA_ENST00000427060.2_Missense_Mutation_p.S103Y|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S80Y|SLA_ENST00000518565.1_5'UTR|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	63	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGTGCTAAGAGAAATAGCTTT	0.423000													42	26					6.5261e-18	8.95622e-18	0.008740	1	0
PHKA2	5256	broad.mit.edu	37	X	18944619	18944619	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:18944619T>A	ENST00000379942.4	-	14	2076	c.1411A>T	c.(1411-1413)Att>Ttt	p.I471F		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	471					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGACTTGAATTGGATGAATG	0.473000													66	46					0	0	0.014410	0	0
SHROOM2	357	broad.mit.edu	37	X	9864172	9864172	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:9864172G>T	ENST00000380913.3	+	4	2314	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	742	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TACAAGTGGCGGGCCCCACCC	0.627000													4	4					4.096e-09	4.79476e-09	0.001168	1	0
AHNAK	79026	broad.mit.edu	37	11	62292197	62292197	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:62292197G>A	ENST00000378024.4	-	5	9966	c.9692C>T	c.(9691-9693)cCt>cTt	p.P3231L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3231					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)				TTTCATTTTAGGGCCTTTAAG	0.413000													95	120					0	0	0.014410	0	0
ING1	3621	broad.mit.edu	37	13	111372069	111372069	+	Silent	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:111372069C>G	ENST00000375774.3	+	2	1521	c.1059C>G	c.(1057-1059)ccC>ccG	p.P353P	ING1_ENST00000333219.7_Silent_p.P210P|ING1_ENST00000338450.7_Silent_p.P166P|ING1_ENST00000375775.3_Silent_p.P141P	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	353					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCAACGAACCCACGTACTGTC	0.612000													15	59					0	0	0.003163	0	0
C5orf38	153571	broad.mit.edu	37	5	2755283	2755283	+	Silent	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:2755283G>A	ENST00000397835.4	+	3	474	c.474G>A	c.(472-474)ccG>ccA	p.P158P	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	44						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGAGAAggccggggcgctcgc	0.791000													4	9					0	0	0.009096	0	0
SPERT	220082	broad.mit.edu	37	13	46288332	46288332	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:46288332G>T	ENST00000378966.3	+	2	1480	c.1064G>T	c.(1063-1065)aGg>aTg	p.R355M	SPERT_ENST00000310521.1_Missense_Mutation_p.R391M			Q8NA61	SPERT_HUMAN	spermatid associated	391						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCAGAGCACAGGGGCTTCCAG	0.622000													5	19					0.00116845	0.00121869	0.001168	1	0
PDE6A	5145	broad.mit.edu	37	5	149276050	149276050	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:149276050C>A	ENST00000255266.5	-	12	1608	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	497					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTATCTGCATCTGGCAGCTCC	0.443000													30	16					9.39395e-14	1.21713e-13	0.006320	1	0
FSIP2	401024	broad.mit.edu	37	2	186697850	186697850	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:186697850C>A	ENST00000343098.5	+	23	20888	c.20888C>A	c.(20887-20889)tCt>tAt	p.S6963Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6874Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACAAGGATCTAAAATGCTG	0.383000													32	31					1.06801e-11	1.32454e-11	0.009535	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499906	104499906	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:104499906G>T	ENST00000361820.3	-	1	956	c.356C>A	c.(355-357)gCg>gAg	p.A119E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	119					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAGGGCCTCCGCCCTGGCGCC	0.711000													10	3					0.000442599	0.000466294	0.006214	1	0
SMARCA1	6594	broad.mit.edu	37	X	128652375	128652375	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:128652375G>A	ENST00000371122.4	-	2	353	c.224C>T	c.(223-225)tCt>tTt	p.S75F	SMARCA1_ENST00000371121.3_Missense_Mutation_p.S75F|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.S75F	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	75					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCCTTTTCAGATTTAGGCGC	0.313000													9	26					0	0	0.006214	0	0
GIF	2694	broad.mit.edu	37	11	59604670	59604670	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:59604670A>C	ENST00000541311.1	-	6	1007	c.773T>G	c.(772-774)gTg>gGg	p.V258G	GIF_ENST00000257248.2_Missense_Mutation_p.V283G			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	283					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GACCTGGGGCACATCTAGGTA	0.453000													33	54					0	0	0.021022	0	0
FBXO31	79791	broad.mit.edu	37	16	87364905	87364905	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:87364905G>A	ENST00000311635.7	-	9	1621	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	537					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGAGGTGAGGGACTGAATG	0.587000													12	22					0	0	0.013537	0	0
PRSS12	8492	broad.mit.edu	37	4	119220095	119220095	+	Splice_Site	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:119220095T>A	ENST00000296498.3	-	9	1914		c.e9-2			NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)							membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCAGGACCCCTGAAGACAGAA	0.378000													19	5					0	0	0.008871	0	0
NBPF9	400818	broad.mit.edu	37	1	144811944	144811944	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:144811944G>T	ENST00000440491.2	+	1	201	c.201G>T	c.(199-201)caG>caT	p.Q67H	NBPF9_ENST00000338347.4_Missense_Mutation_p.Q67H|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGGCCAACCAGCAGAACAAAT	0.453000													39	170					1.05386e-31	1.65538e-31	0.014410	1	0
NCAPD3	23310	broad.mit.edu	37	11	134028316	134028316	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:134028316C>A	ENST00000534548.2	-	30	4006	c.3942G>T	c.(3940-3942)caG>caT	p.Q1314H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1314					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTGTGCAGGGCTGGCTCACGG	0.532000													35	75					1.36161e-19	1.94277e-19	0.019004	1	0
CNBD1	168975	broad.mit.edu	37	8	88249284	88249284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:88249284G>T	ENST00000518476.1	+	6	766	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	239										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CATTTGGAGTGAAGAATTCAA	0.393000													14	46					2.32078e-09	2.72895e-09	0.003163	1	0
EYA1	2138	broad.mit.edu	37	8	72111605	72111605	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:72111605C>A	ENST00000340726.3	-	18	2388	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	EYA1_ENST00000388740.3_Silent_p.L550L|EYA1_ENST00000419131.1_Silent_p.L548L|EYA1_ENST00000303824.7_Silent_p.L577L|EYA1_ENST00000388741.2_Silent_p.L549L|EYA1_ENST00000388742.4_Silent_p.L583L|EYA1_ENST00000388743.2_Silent_p.L582L|RP11-326E22.1_ENST00000521685.1_RNA	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	583			L -> P (in BOR1).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGCATGGTGCAGGGCCATGA	0.617000													10	21					1.58986e-06	1.76972e-06	0.008291	1	0
TEC	7006	broad.mit.edu	37	4	48140816	48140816	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:48140816T>A	ENST00000381501.3	-	17	1835	c.1678A>T	c.(1678-1680)Acg>Tcg	p.T560S		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	560	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTGCCTTCCGTGAATACTTCC	0.458000													26	35					0	0	0.004656	0	0
HECW1	23072	broad.mit.edu	37	7	43484422	43484422	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:43484422G>A	ENST00000395891.1	+	11	2256	c.1651G>A	c.(1651-1653)Ggg>Agg	p.G551R	HECW1_ENST00000453890.1_Missense_Mutation_p.G551R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	551					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTCAGCCTGCGGGGACCCCGA	0.692000													31	44					0	0	0.010818	0	0
PDE1C	5137	broad.mit.edu	37	7	31864532	31864532	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:31864532G>A	ENST00000396184.3	-	14	1559	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	PDE1C_ENST00000396191.1_Missense_Mutation_p.P452L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P452L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P452L|PDE1C_ENST00000396193.1_Missense_Mutation_p.P512L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	452	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATCGATTAATGGACTCACAAT	0.507000													64	79					0	0	0.014410	0	0
FAM153B	202134	broad.mit.edu	37	5	175528064	175528064	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr5:175528064C>T	ENST00000253490.4	+	11	634	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	FAM153B_ENST00000510151.1_Silent_p.L116L|FAM153B_ENST00000515817.1_Silent_p.L116L|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	193										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCTGGAAGACCTGGAGGAGCA	0.512000													57	133					0	0	0.014410	0	0
FGFR1	2260	broad.mit.edu	37	8	38277222	38277222	+	Silent	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:38277222C>A	ENST00000341462.5	-	9	2054	c.1113G>T	c.(1111-1113)tcG>tcT	p.S371S	FGFR1_ENST00000397103.1_Silent_p.S282S|FGFR1_ENST00000397108.4_Silent_p.S369S|FGFR1_ENST00000397113.2_Silent_p.S369S|FGFR1_ENST00000356207.5_Silent_p.S282S|FGFR1_ENST00000335922.5_Silent_p.S363S|FGFR1_ENST00000326324.6_Silent_p.S280S|FGFR1_ENST00000532791.1_Silent_p.S371S|FGFR1_ENST00000447712.2_Silent_p.S371S|FGFR1_ENST00000425967.3_Silent_p.S402S|FGFR1_ENST00000397091.5_Silent_p.S369S			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	371					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.S371S(3)|p.S363S(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTACAGGGGCGAGGTCATCA	0.582000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						16	24					2.23348e-06	2.47822e-06	0.004007	1	0
BIRC6	57448	broad.mit.edu	37	2	32774389	32774389	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:32774389A>T	ENST00000421745.2	+	65	13119	c.12985A>T	c.(12985-12987)Agt>Tgt	p.S4329C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4329					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGTTCTTGCCAGTTACATAAA	0.363000													27	45					0	0	0.008361	0	0
AHNAK	79026	broad.mit.edu	37	11	62297614	62297614	+	Silent	SNP	C	C	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:62297614C>T	ENST00000378024.4	-	5	4549	c.4275G>A	c.(4273-4275)gtG>gtA	p.V1425V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1425					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)				CTTCAATATTCACATCTGGAA	0.463000													142	258					0	0	0.014410	0	0
CHD5	26038	broad.mit.edu	37	1	6169998	6169998	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:6169998A>T	ENST00000262450.3	-	38	5534	c.5435T>A	c.(5434-5436)cTg>cAg	p.L1812Q	CHD5_ENST00000378021.1_Missense_Mutation_p.L669Q	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1812					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCATGTTCAGGTACGCGGC	0.697000													32	11					0	0	0.008361	0	0
RILPL1	353116	broad.mit.edu	37	12	123983220	123983220	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:123983220T>G	ENST00000376874.4	-	4	907	c.672A>C	c.(670-672)gaA>gaC	p.E224D	RILPL1_ENST00000340724.6_Missense_Mutation_p.E72D	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	224					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCACCTTCTGTTCGATCAGGG	0.612000													61	67					0	0	0.014410	0	0
NSUN6	221078	broad.mit.edu	37	10	18885168	18885168	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr10:18885168G>T	ENST00000377304.4	-	7	1164	c.746C>A	c.(745-747)aCa>aAa	p.T249K		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	249							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGTGTTGTTTTCCCTCC	0.398000													47	20					2.61675e-31	4.09187e-31	0.013114	1	0
GPR132	29933	broad.mit.edu	37	14	105518183	105518183	+	Silent	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:105518183G>T	ENST00000329797.3	-	4	1202	c.291C>A	c.(289-291)ctC>ctA	p.L97L	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.L97L|GPR132_ENST00000392585.2_Silent_p.L88L	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	97					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGATGACCCAGAGTGGCAGCG	0.617000													26	126					3.65163e-15	4.81498e-15	0.006320	1	0
FZD7	8324	broad.mit.edu	37	2	202899768	202899768	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:202899768C>A	ENST00000286201.1	+	1	459	c.398C>A	c.(397-399)gCg>gAg	p.A133E		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	133	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						GGCTGCGAGGCGCTCATGAAC	0.652000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	41					3.21987e-24	4.82518e-24	0.014410	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371572	107371572	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:107371572C>G	ENST00000552029.1	-	2	2989	c.921G>C	c.(919-921)ttG>ttC	p.L307F	MTERFD3_ENST00000392830.2_Missense_Mutation_p.L307F|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L307F|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCCTTCTCTCAATAATCCTT	0.368000													32	138					0	0	0.009535	0	0
SULT1C2	6819	broad.mit.edu	37	2	108922022	108922022	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:108922022A>T	ENST00000326853.5	+	8	1235	c.782A>T	c.(781-783)gAc>gTc	p.D261V	SULT1C2_ENST00000437390.2_Missense_Mutation_p.D264V|SULT1C2_ENST00000251481.6_Missense_Mutation_p.D250V|SULT1C2_ENST00000409880.1_Missense_Mutation_p.D213V	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	250					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTATCTTGGACCAGTCAATT	0.393000													7	88					0	0	0.001984	0	0
HRNR	388697	broad.mit.edu	37	1	152187488	152187488	+	Missense_Mutation	SNP	C	C	A	rs139858493		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:152187488C>A	ENST00000368801.2	-	3	6692	c.6617G>T	c.(6616-6618)gGt>gTt	p.G2206V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2206					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGAACGACCTGAGCCAGA	0.607000													51	548					3.31993e-32	5.23064e-32	0.014410	1	0
NUP205	23165	broad.mit.edu	37	7	135272330	135272330	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:135272330A>T	ENST00000285968.6	+	9	1252	c.1226A>T	c.(1225-1227)cAg>cTg	p.Q409L	NUP205_ENST00000440390.2_Missense_Mutation_p.Q203L	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	409					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TAGGTGAAACAGCTGAGGAAT	0.353000													11	11					0	0	0.008291	0	0
OR5T1	390155	broad.mit.edu	37	11	56043758	56043758	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:56043758T>C	ENST00000313033.2	+	1	730	c.644T>C	c.(643-645)gTg>gCg	p.V215A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTCTACTTTGTGGGCTCTATT	0.413000													78	139					0	0	0.014410	0	0
TTC16	158248	broad.mit.edu	37	9	130486546	130486546	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:130486546C>A	ENST00000373289.3	+	8	1100	c.1020C>A	c.(1018-1020)caC>caA	p.H340Q	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Missense_Mutation_p.H164Q	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	340							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TTGCCGTGCACTGCTACAGGC	0.622000													48	10					5.78141e-17	7.79072e-17	0.013114	1	0
MAP2K5	5607	broad.mit.edu	37	15	67893060	67893060	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:67893060G>C	ENST00000178640.5	+	8	1145	c.518G>C	c.(517-519)gGt>gCt	p.G173A	MAP2K5_ENST00000354498.5_Missense_Mutation_p.G137A|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.G173A	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	173	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GACACTCTTGGTCATGGCAAC	0.398000													20	61					0	0	0.016522	0	0
DCAF4	26094	broad.mit.edu	37	14	73421106	73421106	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr14:73421106G>T	ENST00000553457.1	+	10	910	c.620G>T	c.(619-621)cGg>cTg	p.R207L	DCAF4_ENST00000509153.1_Missense_Mutation_p.R247L|DCAF4_ENST00000358377.2_Missense_Mutation_p.R307L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Missense_Mutation_p.R308L|DCAF4_ENST00000394234.2_Missense_Mutation_p.R207L			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	307						CUL4 RING ubiquitin ligase complex		p.R307L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTGTCTCGGCGGGTCCTGTTG	0.547000													26	20					9.78306e-22	1.4251e-21	0.009535	1	0
TAS2R31	259290	broad.mit.edu	37	12	11183140	11183140	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:11183140T>A	ENST00000390675.2	-	1	866	c.795A>T	c.(793-795)aaA>aaT	p.K265N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	265					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						ATCTAATAGCTTTGCAGAACA	0.398000													165	147					0	0	0.014410	0	0
C1orf101	257044	broad.mit.edu	37	1	244736039	244736039	+	Frame_Shift_Del	DEL	T	T	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr1:244736039delT	ENST00000366534.4	+	11	1969	c.1915delT	c.(1915-1917)ttfs	p.F639fs	C1orf101_ENST00000366533.4_Frame_Shift_Del_p.F639fs|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Frame_Shift_Del_p.F488fs	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	639						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGAGATTTCCTTTGAAGCTGC	0.318													7	46	---	---	---	---					
TPO	7173	broad.mit.edu	37	2	1497681	1497681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:1497681delT	ENST00000345913.4	+	11	1967	c.1876delT	c.(1876-1878)acfs	p.Y626fs	TPO_ENST00000337415.3_Frame_Shift_Del_p.Y626fs|TPO_ENST00000329066.4_Frame_Shift_Del_p.Y626fs|TPO_ENST00000349624.3_Frame_Shift_Del_p.Y453fs|TPO_ENST00000382198.1_Frame_Shift_Del_p.Y453fs|TPO_ENST00000382201.3_Frame_Shift_Del_p.Y569fs|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Frame_Shift_Del_p.Y626fs	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	626					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTGGACTTGTACAAGCATCC	0.607													14	51	---	---	---	---					
IGKV1-17	28937	broad.mit.edu	37	2	89417281	89417281	+	RNA	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:89417281delG	ENST00000490686.1	-	0	54																											AGGAGCCCCAGGAGCTGAGCG	0.537													26	315	---	---	---	---					
IGKV1D-17	28900	broad.mit.edu	37	2	90121684	90121684	+	RNA	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:90121684delC	ENST00000483379.1	+	0	208																											CTGCTCAGCTCCTGGGGCTCC	0.527													38	70	---	---	---	---					
PLCL1	5334	broad.mit.edu	37	2	198953615	198953616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr2:198953615_198953616insT	ENST00000428675.1	+	3	3147_3148	c.2749_2750insT	c.(2749-2751)cccfs	p.P917fs	PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.P819fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	917					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTATGTGGACTCCCTCCAATT	0.480													194	314	---	---	---	---					
KBTBD12	166348	broad.mit.edu	37	3	127702968	127702969	+	Frame_Shift_Ins	INS	-	-	T			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr3:127702968_127702969insT	ENST00000405109.1	+	6	2186_2187	c.1719_1720insT	c.(1717-1722)attggafs	p.G574fs	KBTBD12_ENST00000407609.3_Frame_Shift_Ins_p.G181fs|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Frame_Shift_Ins_p.G149fs|KBTBD12_ENST00000405256.1_Frame_Shift_Ins_p.G574fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	574										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAAAGAAATATTGGAACTGGA	0.450													30	98	---	---	---	---					
ZNF732	654254	broad.mit.edu	37	4	289840	289840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:289840delG	ENST00000419098.1	-	2	118	c.108delC	c.(106-108)aafs	p.N36fs		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						GGTTCCTGTAGTTCTCCAACA	0.418													42	68	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39325005	39325005	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:39325005delA	ENST00000381897.1	-	7	808	c.675delT	c.(673-675)ttfs	p.F225fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.F225fs|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	225					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGTTCTGGCAAACTCTTCAT	0.383													32	60	---	---	---	---					
PHOX2B	8929	broad.mit.edu	37	4	41750440	41750440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr4:41750440delC	ENST00000226382.2	-	1	547	c.188delG	c.(187-189)gafs	p.G63fs	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	63					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCTGCAGGATCCCGGCGTGAG	0.627			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				34	77	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)del	p.AA130del	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													6	9	---	---	---	---					
ARHGAP18	93663	broad.mit.edu	37	6	129963071	129963071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:129963071delG	ENST00000368149.2	-	2	294	c.206delC	c.(205-207)ttfs	p.S69fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	69					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTCATCCAAAGAATCCTGGGA	0.393													25	84	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152762389	152762390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr6:152762389_152762390insA	ENST00000367255.5	-	32	4625_4626	c.4024_4025insT	c.(4024-4026)ggafs	p.G1342fs	SYNE1_ENST00000413186.2_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G1349fs|SYNE1_ENST00000367253.4_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000367248.3_Frame_Shift_Ins_p.G1332fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G1408fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G1349fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1342					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)		AAATCGCTCCCATTTTCTTAAT	0.317										HNSCC(10;0.0054)			8	11	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													4	2	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8176185	8176185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:8176185delG	ENST00000520004.1	-	6	3964	c.3700delC	c.(3700-3702)ggfs	p.R1234fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.R1234fs			Q86YV5	SG223_HUMAN		1234	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGGCCAGCCGGGCCTGGCTC	0.607													11	9	---	---	---	---					
RHOBTB2	23221	broad.mit.edu	37	8	22864461	22864461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr8:22864461delC	ENST00000251822.6	+	5	1240	c.703delC	c.(703-705)ccfs	p.P236fs	RHOBTB2_ENST00000522948.1_Frame_Shift_Del_p.P243fs|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Frame_Shift_Del_p.P258fs|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	236					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACCCTTCCTACCCCCCAAGCC	0.692													32	40	---	---	---	---					
PTAR1	375743	broad.mit.edu	37	9	72338243	72338247	+	Splice_Site	DEL	TATGA	TATGA	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr9:72338243_72338247delTATGA	ENST00000377200.5	-	4	707_711	c.710_splice	c.e4+1	p.CHR235_splice	PTAR1_ENST00000340434.4_Splice_Site_p.CHR314_splice			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	314					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TTTTCTTACCTATGACACCAAAGGG	0.405													16	97	---	---	---	---					
KCNJ5	3762	broad.mit.edu	37	11	128781191	128781191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr11:128781191delC	ENST00000529694.1	+	2	399	c.23delC	c.(22-24)gcfs	p.A8fs	KCNJ5_ENST00000533599.1_Frame_Shift_Del_p.A8fs|KCNJ5_ENST00000338350.4_Frame_Shift_Del_p.A8fs	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	8					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCTAGGAATGCCATGAACCAG	0.512													42	91	---	---	---	---					
TBX5	6910	broad.mit.edu	37	12	114836517	114836517	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr12:114836517delG	ENST00000310346.4	-	5	1037	c.371delC	c.(370-372)agfs	p.T124fs	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Frame_Shift_Del_p.T124fs|TBX5_ENST00000526441.1_Frame_Shift_Del_p.T124fs|TBX5_ENST00000349716.5_Frame_Shift_Del_p.T74fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	124					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGCTTTGCCCGTCACAGACCT	0.622													3	6	---	---	---	---					
ARHGEF7	8874	broad.mit.edu	37	13	111944652	111944652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr13:111944652delT	ENST00000375741.2	+	20	2635	c.2385delT	c.(2383-2385)tgfs	p.C796fs	ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000375723.1_Frame_Shift_Del_p.C618fs|ARHGEF7_ENST00000478679.1_Frame_Shift_Del_p.C540fs|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.C746fs|ARHGEF7_ENST00000218789.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.C775fs|ARHGEF7_ENST00000375737.5_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	796					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTAAGAGCTGTTGCTCATATA	0.418													38	67	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25312956	25312957	+	RNA	INS	-	-	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:25312956_25312957insA	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA																							GAGTCCCCCATAAAAACATTCC	0.495													44	141	---	---	---	---					
LCTL	197021	broad.mit.edu	37	15	66845350	66845350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr15:66845350delC	ENST00000341509.5	-	9	1300	c.1169delG	c.(1168-1170)gafs	p.G390fs	LCTL_ENST00000537670.1_Frame_Shift_Del_p.G217fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	390					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCCTAAATCCCCATGGCAC	0.473													25	151	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814035	21814035	+	RNA	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:21814035delC	ENST00000546471.1	-	0	1621																											CAATACCCTGCCGGGATGCAT	0.358													17	22	---	---	---	---					
DNAJA2	10294	broad.mit.edu	37	16	46998591	46998591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:46998591delC	ENST00000317089.5	-	6	921	c.706delG	c.(706-708)aafs	p.E236fs		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	236					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TGGTCTGCTTCCCCAGTGAAT	0.398													31	122	---	---	---	---					
C16orf46	123775	broad.mit.edu	37	16	81095289	81095290	+	Frame_Shift_Ins	INS	-	-	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr16:81095289_81095290insG	ENST00000378611.4	-	3	779_780	c.664_665insC	c.(664-666)ggafs	p.G222fs	C16orf46_ENST00000299578.5_Frame_Shift_Ins_p.G222fs|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	222										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CAGAACATCCAAAGCATTTGAA	0.535													40	166	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62750873	62750873	+	RNA	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr17:62750873delG	ENST00000400873.3	-	0	1841					NR_026899.1																						AACATGACCTGAAATAGGCAA	0.378													9	8	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3215130	3215145	+	Frame_Shift_Del	DEL	CGCTGGTAGTGACTCA	CGCTGGTAGTGACTCA	-	rs76382984	byFrequency	TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:3215130_3215145delCGCTGGTAGTGACTCA	ENST00000400569.3	-	2	410_425	c.77_92delTGAGTCACTACCAGCG	c.(76-93)ggfs	p.VSHYQR26fs	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000356443.4_Frame_Shift_Del_p.VSHYQR26fs|MYOM1_ENST00000261606.7_Frame_Shift_Del_p.VSHYQR26fs			P52179	MYOM1_HUMAN	myomesin 1	26						striated muscle myosin thick filament	structural constituent of muscle	p.R31L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCTTCTCCCGCTGGTAGTGACTCACGGTGCTGCG	0.639													9	7	---	---	---	---					
LRRC37A7P	100421589	broad.mit.edu	37	18	29304177	29304178	+	RNA	INS	-	-	G			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr18:29304177_29304178insG	ENST00000583900.1	+	0	17_18																											GCCAGCGTCTCGGGGCTGCCCT	0.634													4	3	---	---	---	---					
ZNF100	163227	broad.mit.edu	37	19	21909959	21909959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:21909959delG	ENST00000358296.6	-	5	1353	c.1155delC	c.(1153-1155)ttfs	p.F385fs	ZNF100_ENST00000305570.6_Frame_Shift_Del_p.F321fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGTATGAGAATCGGTAAA	0.398													16	34	---	---	---	---					
ZNF585B	92285	broad.mit.edu	37	19	37676536	37676536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:37676536delC	ENST00000532828.2	-	5	2154	c.1903delG	c.(1903-1905)tgfs	p.V635fs	ZNF585B_ENST00000312908.5_Frame_Shift_Del_p.V223fs|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.V580fs|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGGCACACACATAGGGTTTC	0.488													38	110	---	---	---	---					
ZNF780B	163131	broad.mit.edu	37	19	40554637	40554638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:40554637_40554638insA	ENST00000434248.1	-	3	140_141	c.75_76insT	c.(73-78)ccatcafs	p.S26fs	ZNF780B_ENST00000221355.6_5'UTR|ZNF780B_ENST00000598845.1_Frame_Shift_Ins_p.S26fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D26Y(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCCTCTGATCAGGCTGCAGGC	0.470													62	187	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	43130686	43130686	+	RNA	DEL	C	C	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:43130686delC	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						CTGCGTCCTTCCTTGTGACTC	0.512													67	174	---	---	---	---					
ZNF677	342926	broad.mit.edu	37	19	53740783	53740783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:53740783delT	ENST00000333952.4	-	5	1362	c.1197delA	c.(1195-1197)ggfs	p.G399fs	ZNF677_ENST00000598513.1_Frame_Shift_Del_p.G399fs			Q86XU0	ZN677_HUMAN	zinc finger protein 677	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAGGCTTCTCTCCAGTATGGA	0.393													28	99	---	---	---	---					
ZNF135	7694	broad.mit.edu	37	19	58578848	58578849	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chr19:58578848_58578849insA	ENST00000506786.1	+	5	1424_1425	c.870_871insA	c.(868-873)ggaagcfs	p.S291fs	ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.S345fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.S333fs|ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.S357fs|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.S345fs|ZNF135_ENST00000313434.5_Frame_Shift_Ins_p.S333fs			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	345					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGAGTGTGGGAAAGCCTTCCG	0.554													36	29	---	---	---	---					
FMR1	2332	broad.mit.edu	37	X	147011726	147011728	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-53-7624-01A-11D-2063-08	TCGA-53-7624-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5685f3a2-2a81-48a9-87f7-e539425e9bc6	92ce6f8c-0066-4617-820d-5905371d7912	g.chrX:147011726_147011728delTGA	ENST00000218200.8	+	7	822_824	c.593_595delTGA	c.(592-597)cta>c	p.LI198del	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370470.1_In_Frame_Del_p.LI198del|FMR1_ENST00000370471.3_In_Frame_Del_p.LI198del|FMR1_ENST00000334557.6_In_Frame_Del_p.LI198del|FMR1_ENST00000370475.4_In_Frame_Del_p.LI198del|FMR1_ENST00000370477.1_In_Frame_Del_p.LI198del|FMR1_ENST00000439526.2_In_Frame_Del_p.LI198del	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	198					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGTCTCTGATAATGAGAAA	0.409									Fragile X syndrome				26	93	---	---	---	---					
