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
TADA2A	6871	broad.mit.edu	37	17	35783695	35783695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:35783695C>T	ENST00000394395.2	+	3	285	c.112C>T	c.(112-114)Cct>Tct	p.P38S	TADA2A_ENST00000225396.6_Missense_Mutation_p.P38S|TADA2A_ENST00000586023.1_Missense_Mutation_p.P38S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P38S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	38	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGGGCCACCTCCTTTTTTCCT	0.443000													34	124					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88454692	88454692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88454692C>T	ENST00000552810.1	-	47	6780	c.6437G>A	c.(6436-6438)aGa>aAa	p.R2146K	CEP290_ENST00000309041.7_Missense_Mutation_p.R2148K|CEP290_ENST00000547691.2_Missense_Mutation_p.R1206K|CEP290_ENST00000397838.3_Missense_Mutation_p.R1206K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2146					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATTTTCTCTCTGGACTTT	0.299000													4	14					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881400	26881400	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26881400G>A	ENST00000308360.7	-	12	1881	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	PIGS_ENST00000395346.2_Silent_p.F494F|PIGS_ENST00000543734.1_Silent_p.F441F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	502					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACGGGTCAAAGAAGGCAAGCT	0.557000													27	95					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51944732	51944732	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51944732G>A	ENST00000371117.3	-	5	631	c.356C>T	c.(355-357)cCa>cTa	p.P119L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P119L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	119					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)					TCCTGGATTTGGACTGCTTAC	0.473000													33	166					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9211708	9211708	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9211708C>T	ENST00000383440.2	+	5	766	c.509C>T	c.(508-510)gCt>gTt	p.A170V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.A170V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.A193V|ANKRD12_ENST00000540578.2_3'UTR	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	193						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACATGGCTGCTATTCGAGGA	0.363000													10	43					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288196	62288196	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62288196G>A	ENST00000378024.4	-	5	13967	c.13693C>T	c.(13693-13695)Cct>Tct	p.P4565S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4565					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)				TCAATATCAGGAGTGTCAATG	0.448000													15	96					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121032	38121032	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121032C>T	ENST00000406386.3	+	7	2724	c.2469C>T	c.(2467-2469)atC>atT	p.I823I	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	823					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACATCCCCAGATCAT	0.522000													18	71					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93527664	93527664	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527664G>A	ENST00000394196.4	+	25	4239	c.3171G>A	c.(3169-3171)gaG>gaA	p.E1057E	CHD2_ENST00000557381.1_Silent_p.E1057E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1057	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGTAGAGGAGGAAGAGCGGC	0.413000													26	7					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21265245	21265245	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21265245C>T	ENST00000233242.1	-	3	352	c.225G>A	c.(223-225)agG>agA	p.R75R	APOB_ENST00000399256.4_Silent_p.R75R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	75	Heparin-binding.|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)	TGCAGTTGATCCTGGTGGCAC	0.587000													19	92					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156536225	156536225	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156536225A>G	ENST00000361170.2	-	3	249	c.239T>C	c.(238-240)gTt>gCt	p.V80A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	80	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCAAGGGAACCACGGAGGG	0.577000													3	25					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112021852	112021852	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:112021852A>G	ENST00000371959.3	-	11	3197	c.3198T>C	c.(3196-3198)acT>acC	p.T1066T	AMOT_ENST00000371962.1_Silent_p.T834T|AMOT_ENST00000304758.1_Silent_p.T657T|AMOT_ENST00000524145.1_Silent_p.T1066T	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1066					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTGAATGGGAGTTTTTCTTT	0.403000													70	241					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96369956	96369956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:96369956C>T	ENST00000324765.8	+	21	2928	c.2581C>T	c.(2581-2583)Ctt>Ttt	p.L861F	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L861F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L857F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	861	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GATCAACTTCCTTTGTAAGGT	0.333000													17	24					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96152888	96152888	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96152888G>A	ENST00000340722.7	+	1	135	c.84G>A	c.(82-84)gaG>gaA	p.E28E	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	28										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AAGATGAGGAGGGGAGAACCT	0.642000													11	51					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435132	56435132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56435132G>A	ENST00000584437.1	-	8	3960	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	RNF43_ENST00000500597.2_Missense_Mutation_p.P628S|RNF43_ENST00000577716.1_Missense_Mutation_p.P669S|RNF43_ENST00000407977.2_Missense_Mutation_p.P669S|RNF43_ENST00000577625.1_Missense_Mutation_p.P542S|RNF43_ENST00000583753.1_Missense_Mutation_p.P628S|RNF43_ENST00000581868.1_Missense_Mutation_p.P542S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	669	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATCCTGGGGCCGAGAGCCA	0.597000													33	163					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596343	24596343	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24596343G>A	ENST00000535378.1	-	4	1174	c.532C>T	c.(532-534)Cta>Tta	p.L178L	KIAA0319_ENST00000543707.1_Silent_p.L187L|KIAA0319_ENST00000430948.2_Silent_p.L142L|KIAA0319_ENST00000378214.3_Silent_p.L187L|KIAA0319_ENST00000537886.1_Silent_p.L187L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	187					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCGGCAGTAGGCCCCAGTCC	0.617000													7	28					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585737	42585737	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42585737G>A	ENST00000289957.2	+	4	378	c.249_splice	c.e4-1	p.E84_splice		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	84					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTCATGCAGGAATGGACAGA	0.378000													23	35					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340822	55340822	+	Missense_Mutation	SNP	C	C	T	rs1130462		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55340822C>T	ENST00000391728.4	+	7	1040	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P319L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P319L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P336L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P241L|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTAACCCCAGACACCTG	0.433000													102	61					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85782639	85782639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:85782639A>T	ENST00000233838.3	-	6	773	c.693T>A	c.(691-693)taT>taA	p.Y231*	GGCX_ENST00000430215.3_Nonsense_Mutation_p.Y174*	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	231					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCGGGACAAATATTCCATGG	0.473000													20	59					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358627	140358627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140358627G>A	ENST00000406427.1	-	28	3513	c.3177C>T	c.(3175-3177)ttC>ttT	p.F1059F	PNPLA7_ENST00000371457.1_Silent_p.F640F|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.F1034F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1034	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGTGATGGCGAAATAAGGAA	0.672000													7	35					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197729786	197729786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197729786C>A	ENST00000354764.3	-	20	1900	c.1786G>T	c.(1786-1788)Gga>Tga	p.G596*	PGAP1_ENST00000409475.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	596					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GGAAGAGCTCCACCATGAAAT	0.328000													20	29					1.01871e-10	1.04417e-10	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74565168	74565168	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74565168C>T	ENST00000321288.5	+	9	1304	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CCDC33_ENST00000398814.3_Missense_Mutation_p.S232F			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	435							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCCCACTGTCCTTCCCTATC	0.617000													16	76					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911432	80911432	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:80911432C>T	ENST00000377102.1	-	2	1386	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPRY2_ENST00000540649.1_Missense_Mutation_p.G137R|SPRY2_ENST00000377104.3_Missense_Mutation_p.G137R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	137					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AAGGATGATCCTAGCAGTCTC	0.562000													14	54					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320883	152320883	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152320883C>T	ENST00000243326.4	+	29	5332	c.4849C>T	c.(4849-4851)Ccg>Tcg	p.P1617S	RIF1_ENST00000430328.2_Missense_Mutation_p.P1617S|RIF1_ENST00000444746.2_Missense_Mutation_p.P1617S|RIF1_ENST00000428287.2_Missense_Mutation_p.P1617S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1617S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1617					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATAAAATCTCCGATTTGCGA	0.333000													6	24					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27309024	27309024	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:27309024C>T	ENST00000317338.12	-	2	517	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SEZ6_ENST00000360295.9_Missense_Mutation_p.G30E|SEZ6_ENST00000335960.6_Missense_Mutation_p.G30E|SEZ6_ENST00000442608.3_Missense_Mutation_p.G30E|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	30						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGGGCTTGTCCTTTCCCCAC	0.592000													6	27					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918599	77918599	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918599G>A	ENST00000302536.2	+	7	1130	c.977G>A	c.(976-978)gGc>gAc	p.G326D		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	326							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCAAACAAGGCCGGGCGGGC	0.532000													10	29					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36876005	36876005	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:36876005C>T	ENST00000325718.7	+	14	2103	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	671					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)					GGCCGCAGGTCCCCCATCAGC	0.682000			T	MLL	AL								4	27					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77670523	77670523	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77670523C>T	ENST00000407578.2	-	57	10144	c.9878G>A	c.(9877-9879)gGa>gAa	p.G3293E	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3255E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3255E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGTGCTTCCTCCTATGCC	0.463000													28	73					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443771	20443771	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443771C>A	ENST00000305051.5	+	1	169	c.94C>A	c.(94-96)Cgg>Agg	p.R32R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATCATTCTCGGGTGACAGA	0.403000													46	91					8.00217e-19	8.29957e-19	1	1	0
XRCC6	2547	broad.mit.edu	37	22	42046861	42046861	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:42046861C>T	ENST00000359308.4	+	7	1750	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	XRCC6_ENST00000360079.3_Silent_p.S365S|XRCC6_ENST00000402580.3_Silent_p.S324S|XRCC6_ENST00000428575.2_Silent_p.S232S|XRCC6_ENST00000405878.1_Silent_p.S365S|XRCC6_ENST00000405506.1_Silent_p.S315S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	365	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGAGGCCCTCCCTGTTCGTGT	0.498000								Non-homologous end-joining					6	43					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30963489	30963489	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30963489C>A	ENST00000399914.1	-	9	1784	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	GRIK1_ENST00000399909.1_Missense_Mutation_p.K421N|GRIK1_ENST00000535441.1_Missense_Mutation_p.K438N|GRIK1_ENST00000389124.2_Missense_Mutation_p.K436N|GRIK1_ENST00000399907.1_Missense_Mutation_p.K436N|GRIK1_ENST00000309434.7_Missense_Mutation_p.K438N|GRIK1_ENST00000399913.1_Missense_Mutation_p.K436N|GRIK1_ENST00000327783.4_Missense_Mutation_p.K436N|GRIK1_ENST00000389125.3_Missense_Mutation_p.K421N			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	436					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATTGCTGGACTTGTCTTTGT	0.463000													23	71					1.42536e-11	1.46153e-11	1	1	0
CPS1	1373	broad.mit.edu	37	2	211503916	211503916	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:211503916C>G	ENST00000233072.5	+	23	3068	c.2872C>G	c.(2872-2874)Ctc>Gtc	p.L958V	CPS1_ENST00000451903.2_Missense_Mutation_p.L507V|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.L964V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	958					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)		AACAAACTATCTCTATGTTAC	0.313000													3	25					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534553	3534553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3534553G>A	ENST00000315677.3	-	10	2713	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	DLGAP1_ENST00000400150.3_Silent_p.F422F|DLGAP1_ENST00000539435.1_Silent_p.F414F|DLGAP1_ENST00000400155.1_Silent_p.F412F|DLGAP1_ENST00000400145.2_Silent_p.F404F|DLGAP1_ENST00000400147.2_Silent_p.F404F|DLGAP1_ENST00000400149.3_Silent_p.F396F|DLGAP1_ENST00000534970.1_Silent_p.F390F|DLGAP1_ENST00000584874.1_Silent_p.F706F|DLGAP1_ENST00000581699.1_Silent_p.F412F|DLGAP1_ENST00000515196.2_Silent_p.F706F|DLGAP1_ENST00000581527.1_Silent_p.F706F	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	706					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATTATCATGGAAGTCCAGGT	0.483000													11	34					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242576370	242576370	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242576370G>C	ENST00000407315.1	-	1	494	c.63C>G	c.(61-63)gcC>gcG	p.A21A		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	21							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGAAGGAGACGGCGCGCTTCT	0.776000													6	8					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194670	33194670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33194670G>A	ENST00000309558.3	-	5	1871	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	485					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATAGGACAGGGTGGCCATGGG	0.522000													7	30					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448465	89448465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:89448465G>A	ENST00000399794.2	-	3	1760	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P349S|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.						nucleotide binding|RNA binding										ACAGAAGGGGGAAGCCCTCTT	0.537000													47	133					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967213	106967213	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:106967213C>T	ENST00000390622.2	-	0	490																											CACTCAAGCCCTTGTCCAGGG	0.557000													55	141					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6589096	6589096	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:6589096G>A	ENST00000379953.2	+	2	481	c.129G>A	c.(127-129)caG>caA	p.Q43Q	LY86_ENST00000230568.4_Silent_p.Q43Q|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	43					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582000													15	50					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152806879	152806879	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152806879C>T	ENST00000370186.1	+	3	597	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.P91S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P91S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P91S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P91S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P91S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	91					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCATCCCCCCAAAGCA	0.622000													14	30					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085984	143085984	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143085984C>T	ENST00000322764.5	+	8	1784	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I	ZYX_ENST00000449423.2_Missense_Mutation_p.T393I|ZYX_ENST00000392910.2_Missense_Mutation_p.T323I	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	480	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTGGAGGGCACCTCCTTCATC	0.667000													13	86					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29706662	29706662	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:29706662C>T	ENST00000261593.3	+	7	1026	c.568C>T	c.(568-570)Cct>Tct	p.P190S	RNF138_ENST00000257190.5_Missense_Mutation_p.P96S	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	190					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATAGACATGTCCTATTTGTGT	0.299000													15	50					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189332	100189332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100189332G>A	ENST00000241071.6	+	4	687	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	FBXO24_ENST00000468962.1_Missense_Mutation_p.R110Q|FBXO24_ENST00000360609.2_Missense_Mutation_p.R108Q|FBXO24_ENST00000465843.1_Missense_Mutation_p.R108Q|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R160Q	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	122						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCGCCGCCGATGTCTCAGC	0.582000													13	81					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306111	132306111	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132306111C>T	ENST00000331898.7	-	6	1384	c.806G>A	c.(805-807)gGa>gAa	p.G269E	OPCML_ENST00000374778.4_Missense_Mutation_p.G228E|OPCML_ENST00000524381.1_Missense_Mutation_p.G262E|OPCML_ENST00000541867.1_Missense_Mutation_p.G269E|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AATCCTCATTCCATCCAGACC	0.438000													10	70					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613811	94613811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94613811G>A	ENST00000258526.4	+	6	1823	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	525					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTATGGTGGGAAGCTTCTCT	0.478000													43	210					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781995	147781995	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:147781995C>T	ENST00000340253.5	+	5	679	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	FBXO38_ENST00000296701.6_Missense_Mutation_p.R171C|FBXO38_ENST00000394370.3_Missense_Mutation_p.R171C|FBXO38_ENST00000513826.1_Missense_Mutation_p.R171C|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	171						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCGTAATCGTAATGGAGC	0.358000													41	57					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50147114	50147114	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:50147114C>T	ENST00000376025.2	-	0	1070							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGCTGGGTCCGGTGGCTGT	0.438000													15	5					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458951	78458951	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:78458951C>T	ENST00000566780.1	+	7	1156	c.791_splice	c.e7+1	p.R264_splice	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Splice_Site_p.R264_splice|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	264	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AGAGTCCCATCGGTGGGTTTG	0.473000													39	82					0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42234519	42234519	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42234519G>A	ENST00000220812.2	-	1	231	c.45C>T	c.(43-45)ccC>ccT	p.P15P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	15					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAGCTCCCAGGGGAGAGCAGA	0.657000													4	53					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610131	95610131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95610131G>A	ENST00000395505.2	-	3	922	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZNF484_ENST00000332591.6_Missense_Mutation_p.S277F|ZNF484_ENST00000375495.3_Missense_Mutation_p.S313F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S315F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGACTTGAGGGAAAAATCCTT	0.433000													35	67					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764288	77764288	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77764288C>T	ENST00000521891.2	+	10	5579	c.5131C>T	c.(5131-5133)Cct>Tct	p.P1711S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1685S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1666S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1666S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1666	Gln-rich.					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)			ATTCTTTCAGCCTCAGTTTCT	0.453000										HNSCC(33;0.089)			16	73					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320316	56320316	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56320316C>T	ENST00000443188.1	-	5	2370	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NLRP11_ENST00000589824.2_Missense_Mutation_p.E554K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E554K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E455K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E554K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	554							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTCTTCTTCCCGATTCTCA	0.423000													32	182					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51394395	51394395	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:51394395G>A	ENST00000266037.9	+	44	4529	c.4506G>A	c.(4504-4506)gtG>gtA	p.V1502V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1502	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCCCTAGGTGGAGGTGAGCC	0.517000													4	10					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90107097	90107097	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90107097G>A	ENST00000405460.2	+	74	16116	c.16020G>A	c.(16018-16020)caG>caA	p.Q5340Q	GPR98_ENST00000425867.2_Silent_p.Q1001Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5340					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)		GGGGAGCACAGATTGTGGAGG	0.388000													8	20					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042324	205042324	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205042324G>A	ENST00000331830.4	+	22	3257	c.2973G>A	c.(2971-2973)ggG>ggA	p.G991G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	991	Fibronectin type-III 4.				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)			GGCCCGGAGGGGATGGGATCC	0.577000													14	53					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542000													38	177					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678090	32678090	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32678090G>A	ENST00000409358.1	+	5	527		c.e5-1			NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B						intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCTCCCAGACTCTGCACC	0.562000													9	20					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404490	197404490	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404490C>T	ENST00000367397.1	+	5	2498	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L	CRB1_ENST00000535699.1_Missense_Mutation_p.P1142L|CRB1_ENST00000544212.1_Missense_Mutation_p.P647L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.P1166L|CRB1_ENST00000367399.2_Missense_Mutation_p.P1054L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1166	Laminin G-like 1.				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						TGCTCCTGTCCCTTGGGATGG	0.478000													20	41					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539193	153539193	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153539193G>A	ENST00000369915.3	+	4	546	c.357G>A	c.(355-357)cgG>cgA	p.R119R	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Silent_p.R63R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	119					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CCAGCTACCGGGTGTTCTGCC	0.527000													68	14					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48033956	48033956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48033956G>A	ENST00000453192.2	-	9	1024	c.781C>T	c.(781-783)Ccg>Tcg	p.P261S	SUN3_ENST00000395572.2_Missense_Mutation_p.P273S|SUN3_ENST00000412142.1_Missense_Mutation_p.P173S|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000297325.4_Missense_Mutation_p.P273S			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	273	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCCTGACGGAGACACCTTC	0.453000													75	125					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4095781	4095781	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4095781C>T	ENST00000300737.4	+	7	1410	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	STIM1_ENST00000533977.1_Missense_Mutation_p.H108Y|STIM1_ENST00000527651.1_Missense_Mutation_p.H281Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	281	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGAGAAGGTCCATCTGGAAAA	0.637000													10	14					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179104304	179104304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104304G>A	ENST00000471841.1	+	16	2025	c.1899G>A	c.(1897-1899)tgG>tgA	p.W633*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.W522*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.W633*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	633					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GACTGAGCTGGACCACCCATG	0.403000													20	61					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041154	177041154	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177041154C>T	ENST00000393643.2	+	4	696	c.444C>T	c.(442-444)ttC>ttT	p.F148F	WDR17_ENST00000507824.2_Silent_p.F172F|WDR17_ENST00000508596.1_Silent_p.F148F|WDR17_ENST00000280190.4_Silent_p.F172F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	172										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCATAGCTTCTTGTCTGATA	0.423000													29	125					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207705	140207705	+	Missense_Mutation	SNP	G	G	A	rs17844300		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140207705G>A	ENST00000529310.1	+	1	143	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G10E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATTGGGAAAGCAATGT	0.512000													34	146					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678973	100678973	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100678973C>T	ENST00000306151.4	+	3	4340	c.4276C>T	c.(4276-4278)Cct>Tct	p.P1426S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1426	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCAGCACCCCTGGGACCAC	0.498000													102	432					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6977270	6977270	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:6977270C>T	ENST00000600751.1	-	0	685					NR_024075.1																						TCTTAGGTTTCCTTTTAAAGC	0.393000													41	29					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94129658	94129658	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94129658C>T	ENST00000243673.2	-	2	591	c.420G>A	c.(418-420)ggG>ggA	p.G140G	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	140						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATGCCCTTCCCAAATATCC	0.547000													18	37					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276160	74276160	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74276160C>T	ENST00000262765.5	-	12	4383	c.4204G>A	c.(4204-4206)Gag>Aag	p.E1402K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1402							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGGGGCGCTCCCTGAGCTGC	0.687000													11	61					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56190040	56190040	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:56190040C>A	ENST00000340462.4	-	3	616	c.336G>T	c.(334-336)agG>agT	p.R112S	ZBP1_ENST00000395822.3_Missense_Mutation_p.R60S|ZBP1_ENST00000343535.4_Missense_Mutation_p.R135S|ZBP1_ENST00000541799.1_Missense_Mutation_p.R135S|ZBP1_ENST00000371173.3_Missense_Mutation_p.R135S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	135						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTTTGCTGTCCTCATTCCCA	0.542000													119	171					9.79165e-58	1.0234e-57	1	1	0
RUVBL2	10856	broad.mit.edu	37	19	49514284	49514284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49514284C>T	ENST00000413176.2	+	10	1829	c.681C>T	c.(679-681)gtC>gtT	p.V227V	RUVBL2_ENST00000595090.1_Silent_p.V272V|RUVBL2_ENST00000601968.1_Silent_p.V227V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	272					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGTCAGAAGTCCGTGAGCAGA	0.622000													6	37					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864272	31864272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31864272G>A	ENST00000395728.3	-	3	520	c.521C>T	c.(520-522)cCc>cTc	p.P174L	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P174L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P117L|EHMT2_ENST00000375537.4_Missense_Mutation_p.P117L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	117					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGAAGAGGGGAATGACTT	0.537000													23	101					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179104303	179104303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104303G>A	ENST00000471841.1	+	16	2024	c.1898G>A	c.(1897-1899)tGg>tAg	p.W633*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.W522*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.W633*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	633					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTGAGCTGGACCACCCAT	0.398000													20	62					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120347993	120347993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:120347993T>A	ENST00000397843.2	+	35	3597	c.3431T>A	c.(3430-3432)tTa>tAa	p.L1144*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.L1041*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.L1125*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1144					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)		CCAATTCCATTACCACAGTCA	0.398000			T	MLL	AML								20	29					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493156	33493156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:33493156G>A	ENST00000254260.3	-	9	1137	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.Q217*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	368	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCTTACCCTGGTGGTCGATG	0.632000													8	17					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319833	78319833	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78319833C>T	ENST00000582970.1	+	29	7841	c.7698C>T	c.(7696-7698)taC>taT	p.Y2566Y	RNF213_ENST00000508628.2_Silent_p.Y2615Y|RNF213_ENST00000336301.6_Silent_p.Y639Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGGTATACCGGGTCCATG	0.557000													11	42					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37770430G>A	ENST00000402918.1	-	3	1930	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P382L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	382						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637000													11	35					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713534	23713534	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713534C>T	ENST00000256797.4	-	11	1454	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	ERN2_ENST00000457008.2_Missense_Mutation_p.G381E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTTCCACTCCCCAGGGTGGG	0.617000													60	111					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494578	37494578	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37494578C>T	ENST00000381792.2	-	3	354	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E81K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	81					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCATCACCTCCGCCTTGTAC	0.587000													30	124					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156880483	156880483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156880483G>A	ENST00000338302.3	+	16	2124	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S	PEAR1_ENST00000292357.7_Silent_p.S633S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	633	EGF-like 8.					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)					GCCACCCCTCGAACGGGACCT	0.617000													4	32					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175933836	175933836	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:175933836C>T	ENST00000261942.6	+	11	1276	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	408	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GCCAATTTTCCCAGGCGAGTG	0.502000													86	132					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181222	57181222	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181222G>A	ENST00000504228.1	+	6	1659	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	KIAA1211_ENST00000541073.1_Silent_p.K511K|KIAA1211_ENST00000264229.6_Silent_p.K518K			Q6ZU35	K1211_HUMAN	KIAA1211	518	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCGCAAGGTGGAGGAGC	0.642000													5	27					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428000	2428000	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:2428000C>T	ENST00000452833.1	-	21	3156	c.3148G>A	c.(3148-3150)Gac>Aac	p.D1050N	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.D1048N|TRPM5_ENST00000528453.1_Missense_Mutation_p.D1048N|TRPM5_ENST00000533060.1_Missense_Mutation_p.D1048N			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1048						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)		ACCTTCTGGTCCAGGGGGTCT	0.627000													13	57					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554764	34554764	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:34554764G>A	ENST00000373381.4	-	2	394	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	33	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCCATTGGGACCGTGCAG	0.532000													8	23					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65398034	65398034	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65398034G>A	ENST00000355703.3	+	27	4968	c.4429G>A	c.(4429-4431)Gtt>Att	p.V1477I	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1477						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATGCTGCAGGTTTTCGACCT	0.592000													12	44					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553775	19553775	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:19553775G>C	ENST00000409832.3	+	1	411	c.359G>C	c.(358-360)tGg>tCg	p.W120S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGGCCCTTGGGGAGACTAC	0.602000													54	680					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312668	49312668	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49312668G>A	ENST00000266984.5	+	6	1235	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	CCDC65_ENST00000320516.4_Silent_p.L336L|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488000													10	39					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132586	126132586	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:126132586G>A	ENST00000373631.3	+	7	1255	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	CRB2_ENST00000373629.2_Silent_p.G86G|CRB2_ENST00000359999.3_Silent_p.G418G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	418	EGF-like 9.					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						TCGAGTCTGGGGTCCACAGTT	0.622000													7	30					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182304	109182304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109182304G>A	ENST00000326495.5	-	15	2703	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	SSH1_ENST00000360239.3_Silent_p.P558P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	870					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATAACCAGGGGGCCCAGCT	0.667000													5	37					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516890	195516890	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:195516890G>A	ENST00000463781.3	-	2	2020	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P521S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	526					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTAGATGGATTTCCTGTG	0.532000													25	79					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884843	13884843	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:13884843G>A	ENST00000327606.3	-	2	855	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	225					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGACCCCGAGCAGGATGG	0.552000													20	33					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665876	25665876	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:25665876G>A	ENST00000382051.3	+	4	353	c.303G>A	c.(301-303)ttG>ttA	p.L101L	SLC34A2_ENST00000504570.1_Silent_p.L100L|SLC34A2_ENST00000503434.1_Silent_p.L100L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	101					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGGGAGATTGATTTTACTTC	0.478000			T	ROS1	NSCLC								14	60					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17588619	17588619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17588619C>T	ENST00000319363.6	+	12	1181	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	350					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTTTCCAGGGCCTGGAAGTGA	0.463000													5	41					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677667	48677667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48677667C>T	ENST00000544264.1	-	35	9646	c.9366G>A	c.(9364-9366)cgG>cgA	p.R3122R	CELSR3_ENST00000164024.4_Silent_p.R3117R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGCTGCCCCGATCTTTGG	0.677000													19	33					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476205	17476205	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17476205C>T	ENST00000252590.4	-	3	1130	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	357						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCTCGTTCCTTCCGCAGC	0.622000													38	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542597	179542597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179542597C>T	ENST00000589042.1	-	146	34266	c.34042G>A	c.(34042-34044)Gaa>Aaa	p.E11348K	TTN_ENST00000591111.1_Missense_Mutation_p.E11031K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10104K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11031	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCCTCTTCCTGAGGTAGA	0.383000													22	82					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59610013	59610013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59610013C>T	ENST00000541311.1	-	4	573	c.339G>A	c.(337-339)gcG>gcA	p.A113A	GIF_ENST00000257248.2_Silent_p.A138A			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.A138A(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCCAAGATCGCTAGACTGG	0.557000													13	62					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203776182	203776182	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:203776182T>A	ENST00000261015.3	-	1	767	c.18A>T	c.(16-18)acA>acT	p.T6T	WDR12_ENST00000477723.1_Intron	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	6					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGTAGAAGCGTGTTTGGAGCT	0.522000													16	56					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019426	41019426	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41019426C>T	ENST00000585538.1	+	0	265					NR_002773.1																						CCCTCCGTATCTCCCAGTGCC	0.597000													5	75					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516190	27516190	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27516190C>T	ENST00000301904.3	+	5	523	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SCARA3_ENST00000337221.4_Missense_Mutation_p.S168F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	168					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612000													10	57					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17312618	17312618	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:17312618G>A	ENST00000341676.5	-	27	3515	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S	ATP13A2_ENST00000326735.8_3'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_3'UTR	NM_001141974.1	NP_001135446.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCAACCTCAGGGATGTGGGAG	0.647000													8	14					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358389	10358389	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10358389G>A	ENST00000255381.2	-	21	2414	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	768	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGCTTTGAAGAAAACCTTAT	0.403000													13	71					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344298	40344298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40344298C>T	ENST00000301671.8	-	4	1291	c.850G>A	c.(850-852)Gga>Aga	p.G284R	GHDC_ENST00000587427.1_Missense_Mutation_p.G284R|GHDC_ENST00000414034.3_Missense_Mutation_p.G284R|GHDC_ENST00000436923.2_Missense_Mutation_p.G284R|GHDC_ENST00000428494.2_Missense_Mutation_p.G245R|GHDC_ENST00000593209.1_Missense_Mutation_p.G284R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	284						endoplasmic reticulum|nuclear envelope		p.G284R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAGGCTAGTCCTTGGCACCAC	0.632000													20	130					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567462	102567462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102567462C>T	ENST00000260229.4	-	5	815	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTTCTGGGATCCAGGGAGACA	0.403000													10	44					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123737102	123737102	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123737102A>G	ENST00000223642.1	-	30	4001	c.3972T>C	c.(3970-3972)caT>caC	p.H1324H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1324					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTATAATTATGTAAGGCAC	0.388000													19	128					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838435	17838435	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17838435C>T	ENST00000324096.4	+	5	2393	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	MAP1S_ENST00000544059.2_Missense_Mutation_p.R722C|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	748	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATTTGAGCATCGCAAGGCGGT	0.701000													5	12					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50400385	50400385	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50400385G>A	ENST00000434422.1	-	4	421	c.120C>T	c.(118-120)ttC>ttT	p.F40F	RACGAP1_ENST00000312377.5_Silent_p.F40F|RACGAP1_ENST00000547905.1_Silent_p.F40F|RACGAP1_ENST00000551016.1_Silent_p.F40F|RACGAP1_ENST00000454520.2_Silent_p.F40F|RACGAP1_ENST00000427314.2_Silent_p.F40F			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	40					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTTTACGGAAATCCTCAA	0.423000													23	31					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354665	45354665	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45354665G>C	ENST00000359271.2	+	2	1240	c.990G>C	c.(988-990)ctG>ctC	p.L330L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	330						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAAGCTGTCTGGCTGTGCCCA	0.622000													20	72					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170595353	170595353	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170595353C>T	ENST00000366756.3	-	5	1037	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	235	EGF-like 1.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCACAAAATCCATGCTGCTC	0.483000													20	72					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113631062	113631062	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:113631062G>A	ENST00000200135.3	-	5	593	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	150	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353000													17	65					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29544359	29544359	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:29544359G>A	ENST00000222792.6	+	10	1443		c.e10-1		CHN2_ENST00000410098.1_Splice_Site|CHN2_ENST00000421775.2_Splice_Site|CHN2_ENST00000546235.1_Splice_Site|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Splice_Site|CHN2_ENST00000495789.2_Splice_Site|CHN2_ENST00000439711.2_Splice_Site|CHN2_ENST00000409041.4_Splice_Site|CHN2_ENST00000539406.1_Splice_Site|CHN2_ENST00000424025.2_Splice_Site	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTCTCTAACAGGATTAAAATC	0.353000													10	53					0	0	1	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780568	106780568	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:106780568G>A	ENST00000390612.2	-	0	367																											CAGCTTCAGGGAGAACTGGTT	0.542000													44	244					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88938664	88938664	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938664G>A	ENST00000556564.1	-	15	3079	c.2795C>T	c.(2794-2796)cCt>cTt	p.P932L	PTPN21_ENST00000328736.3_Missense_Mutation_p.P932L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	932	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCATCATAAGGAAGAACATC	0.413000													8	64					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843659	24843659	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843659G>A	ENST00000259698.4	-	14	1526	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	FAM65B_ENST00000510784.2_Missense_Mutation_p.P435S|FAM65B_ENST00000540914.1_Missense_Mutation_p.P401S|FAM65B_ENST00000378023.4_Missense_Mutation_p.P401S|FAM65B_ENST00000538035.1_Missense_Mutation_p.P430S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	451					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGTTGGAAGGGGAGCCTGTT	0.552000													10	53					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511583	61511583	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511583G>A	ENST00000266070.4	-	16	6050	c.5725C>T	c.(5725-5727)Ccc>Tcc	p.P1909S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1909S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1909	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTGAGAGGGAGGGGGGCCG	0.642000													14	73					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819554	819554	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:819554C>T	ENST00000293892.3	-	16	3035	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	MSLNL_ENST00000442466.1_Silent_p.G661G			Q96KJ4	MSLNL_HUMAN	mesothelin-like	661					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGATGCAAGTCCCCCAGTGCA	0.632000													8	41					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272434	237272434	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:237272434C>T	ENST00000409907.3	-	15	2132	c.1858G>A	c.(1858-1860)Gca>Aca	p.A620T	IQCA1_ENST00000431676.2_Missense_Mutation_p.A579T|IQCA1_ENST00000309507.5_Missense_Mutation_p.A617T			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	620							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGAAGACTGCATGCAGCATC	0.448000													17	112					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369296	20369296	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:20369296C>T	ENST00000593655.1	-	0	199																											TGGGATGACACGAAACACCTG	0.378000													27	106					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183659600	183659600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:183659600G>A	ENST00000511685.1	+	18	3405	c.3282G>A	c.(3280-3282)tgG>tgA	p.W1094*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.W1094*|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGACTCTGTGGGAAAAGAGGA	0.468000													46	193					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129931022	129931022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:129931022C>T	ENST00000259351.5	+	10	1080	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RALGPS1_ENST00000394022.3_Silent_p.L271L|RALGPS1_ENST00000373436.1_Silent_p.L271L|RALGPS1_ENST00000424082.2_Silent_p.L271L|RALGPS1_ENST00000373434.1_Silent_p.L271L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	271	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TTGAAGAGCTCCAGAAGTTTG	0.517000													19	136					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145735387	145735387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145735387C>T	ENST00000301327.4	+	1	931	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	224	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTGTGCTCACCTACAAGCTG	0.667000											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56664947	56664947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56664947C>T	ENST00000389934.3	-	17	2900	c.2783G>A	c.(2782-2784)tGg>tAg	p.W928*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.W928*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.W934*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	934						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCACTTTTCCATTTTAAGTG	0.328000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475784	118475784	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:118475784G>A	ENST00000360388.4	+	2	550		c.e2+1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						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)		GTCAGACAAGGTAAGCTCACA	0.403000													29	137					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599354	29599354	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599354G>A	ENST00000431530.3	+	1	607	c.549G>A	c.(547-549)agG>agA	p.R183R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	173						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGAACTGAGGAGGCATTCTT	0.547000													14	73					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444538	20444538	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444538C>A	ENST00000305051.5	+	1	936	c.861C>A	c.(859-861)agC>agA	p.S287R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCCTTCAGCAGTTACTCAG	0.448000													25	77					1.30897e-18	1.3571e-18	1	1	0
CD74	972	broad.mit.edu	37	5	149786873	149786873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149786873C>T	ENST00000353334.6	-	2	319	c.140G>A	c.(139-141)gGa>gAa	p.G47E	CD74_ENST00000524315.1_Missense_Mutation_p.G47E|CD74_ENST00000377795.3_Missense_Mutation_p.G47E|CD74_ENST00000009530.7_Missense_Mutation_p.G47E	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	47					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGGGCTCCGCGGCTGCA	0.617000			T	ROS1	NSCLC								10	12					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325781	119325781	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:119325781C>A	ENST00000273371.4	+	2	306	c.234C>A	c.(232-234)ttC>ttA	p.F78L	PLA1A_ENST00000494440.1_Missense_Mutation_p.F62L|PLA1A_ENST00000495992.1_Missense_Mutation_p.F78L|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	78					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTCTGGGTTCAATGCCACTC	0.443000													39	153					8.48111e-28	8.84374e-28	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13768162	13768162	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13768162T>G	ENST00000279593.3	-	7	1749	c.1540A>C	c.(1540-1542)Acc>Ccc	p.T514P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	514					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)	TCATTGATGGTGAGTGAGCCC	0.532000													10	66					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85382230	85382230	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:85382230G>T	ENST00000258888.5	+	4	1097	c.930G>T	c.(928-930)gtG>gtT	p.V310V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	310	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCAGAGGTGACCTGGTACA	0.552000													12	20					1.49906e-05	1.51926e-05	1	1	0
MED30	90390	broad.mit.edu	37	8	118542972	118542972	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:118542972C>T	ENST00000297347.3	+	3	511	c.347C>T	c.(346-348)cCa>cTa	p.P116L	MED30_ENST00000522839.1_Intron	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	116					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CAACTTATTCCATATGTGGAA	0.348000													15	35					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218385	48218385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:48218385G>A	ENST00000394747.1	-	22	3573	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	ABCC11_ENST00000356608.2_Missense_Mutation_p.S1075F|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.S1075F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S1075F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1075	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTAAAGGAGTAGGGGGT	0.557000													14	60					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88960644	88960644	+	Translation_Start_Site	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:88960644A>C	ENST00000277141.6	-	0	929				ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.I86M			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAATGGATTCAATTAAAACAT	0.353000													13	79					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536271	186536271	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:186536271C>T	ENST00000431808.1	-	17	3245	c.2682G>A	c.(2680-2682)agG>agA	p.R894R	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Silent_p.R798R|SORBS2_ENST00000437304.2_Silent_p.R618R|SORBS2_ENST00000319471.9_Silent_p.R525R|SORBS2_ENST00000284776.7_Silent_p.R894R|SORBS2_ENST00000449407.2_Silent_p.R438R|SORBS2_ENST00000393528.3_Silent_p.R460R|SORBS2_ENST00000355634.5_Silent_p.R994R|SORBS2_ENST00000448662.2_Silent_p.R455R			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	894	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATCAATTTTCCTGAGGATGT	0.438000													20	82					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235643460	235643460	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:235643460G>A	ENST00000366600.3	-	5	789	c.561C>T	c.(559-561)gcC>gcT	p.A187A	B3GALNT2_ENST00000313984.3_Silent_p.A228A|B3GALNT2_ENST00000478199.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	187					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAATGAAGAGGGCCTCCTACA	0.423000													12	46					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21205187	21205187	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21205187G>A	ENST00000382778.4	+	17	2477	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	IFT88_ENST00000537103.1_Silent_p.K425K|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000319980.6_Silent_p.K453K|IFT88_ENST00000351808.5_Silent_p.K444K			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	453					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGGAAAAAAAGGACAGTAGAG	0.353000													22	96					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596777	39596777	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596777C>T	ENST00000246646.3	-	1	396	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	133	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGTGTGGCCTCCAGCTCCGCA	0.592000													18	101					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13223747	13223747	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:13223747G>A	ENST00000592062.1	-	7	1290	c.720C>T	c.(718-720)acC>acT	p.T240T	TRMT1_ENST00000437766.1_Silent_p.T240T|TRMT1_ENST00000221504.8_Silent_p.T240T|TRMT1_ENST00000357720.4_Silent_p.T240T			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	240							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CATCCAGGAAGGTGGCTGGGC	0.617000													5	30					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24687347	24687347	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:24687347C>T	ENST00000374409.1	-	8	1176	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	STPG1_ENST00000003583.8_Missense_Mutation_p.G261S|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Missense_Mutation_p.G261S|STPG1_ENST00000337248.4_Missense_Mutation_p.G308S|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TGACCTGGGCCAGGCAGGCCT	0.488000													17	76					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33208967	33208967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33208967C>T	ENST00000396033.2	-	11	1450	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	ITGB1_ENST00000302278.3_Missense_Mutation_p.D439N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D439N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D439N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	439					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGTCAGAATCCTTTTTTGGA	0.348000													62	112					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45668976	45668976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45668976G>A	ENST00000270172.3	-	11	1411	c.928C>T	c.(928-930)Cca>Tca	p.P310S	DNMT3L_ENST00000418993.1_Missense_Mutation_p.P310S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	310					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGACATCTGGGATGGTGACT	0.642000													6	21					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156965	33156965	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33156965C>T	ENST00000341947.2	-	3	460	c.232_splice	c.e3-1	p.G78_splice	COL11A2_ENST00000357486.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374713.1_Splice_Site_p.G78_splice|COL11A2_ENST00000395197.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374714.1_Splice_Site_p.G78_splice|COL11A2_ENST00000395194.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374712.1_Splice_Site_p.G78_splice|COL11A2_ENST00000361917.1_Splice_Site_p.G78_splice|COL11A2_ENST00000374708.4_Splice_Site_p.G78_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	78	TSP N-terminal.				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						GGGAAATCCTCCTAGTAACCG	0.572000													5	18					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694328	64694328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64694328G>A	ENST00000164133.2	+	3	966	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	115					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GAGTGTGTGGGGAGCACCCGG	0.652000													11	35					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490962	73490962	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73490962C>T	ENST00000556143.1	-	2	975	c.255G>A	c.(253-255)agG>agA	p.R85R	ZFYVE1_ENST00000318876.5_Silent_p.R85R|ZFYVE1_ENST00000553891.1_Silent_p.R85R	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	85						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGCCCTCTGCCTAACACCTG	0.517000													44	210					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712312	148712312	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:148712312G>A	ENST00000296721.4	+	17	2128	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R677Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567000													32	47					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493546	55493546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493546C>A	ENST00000543010.1	+	6	623	c.480C>A	c.(478-480)tgC>tgA	p.C160*	NLRP2_ENST00000427260.2_Nonsense_Mutation_p.C137*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.C136*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.C138*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.C138*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.C136*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.C160*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.C157*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	160					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)		ACAATAGGTGCAGGTATATAT	0.448000													131	337					1.19336e-48	1.24679e-48	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130217753	130217753	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130217753T>G	ENST00000276211.5	+	4	710	c.365T>G	c.(364-366)gTg>gGg	p.V122G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V110G|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	122					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGGTCCTGGTGAACGAGTTT	0.552000													115	75					0	0	1	0	0
C19orf33	64073	broad.mit.edu	37	19	38795209	38795209	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38795209C>T	ENST00000591889.1	+	5	346	c.346C>T	c.(346-348)Cca>Tca	p.P116S	C19orf33_ENST00000301246.5_Intron|C19orf33_ENST00000588605.1_Missense_Mutation_p.S48F																							CCTTAGGCCTCCAACTTCAGG	0.667000													4	14					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189931	50189931	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189931G>A	ENST00000335999.6	-	8	1913	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGCTCTGGGGAAGGCCCCCT	0.622000													10	34					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179627	45179627	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45179627G>C	ENST00000358777.4	+	3	989	c.509G>C	c.(508-510)gGg>gCg	p.G170A	CEACAM19_ENST00000403660.3_Missense_Mutation_p.G170A|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	170						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTGCTGCCGGGGCCCTTCTC	0.587000													27	49					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990587	197990587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197990587G>A	ENST00000328737.2	-	5	437	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ANKRD44_ENST00000337207.5_Missense_Mutation_p.H121Y|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H121Y|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H138Y|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H146Y|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H74Y|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H146Y			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	146							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAGCCGCATGGTGCAAGGCT	0.537000													15	88					0	0	1	0	0
TSPAN19	144448	broad.mit.edu	37	12	85413439	85413439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85413439G>A	ENST00000532498.2	-	6	496	c.416C>T	c.(415-417)aCc>aTc	p.T139I	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						AGTCCACTTGGTTATATCTTC	0.328000													35	133					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767641	143767641	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:143767641G>A	ENST00000419275.1	-	1	240	c.208C>T	c.(208-210)Cct>Tct	p.P70S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	70	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTGCCATTAGGGTGTGTGAAG	0.468000													38	253					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11546792G>A	ENST00000389362.4	-	3	255	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											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)			TTTCCTGGAGGAGGTGGGGGA	0.602000													71	362					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:146825806T>A	ENST00000361727.3	+	7	1477	c.961T>A	c.(961-963)Ttc>Atc	p.F321I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	321	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393000										HNSCC(39;0.1)			18	108					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045473	35045473	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35045473G>A	ENST00000312292.5	+	2	2894	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	C9orf131_ENST00000421362.2_Silent_p.R901R|C9orf131_ENST00000354479.5_Silent_p.R876R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	949										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCACCCTAGGAAACCCAAAG	0.542000													19	145					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11682604	11682604	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:11682604G>A	ENST00000337414.4	-	1	1217	c.345C>T	c.(343-345)tcC>tcT	p.S115S	ARHGAP6_ENST00000380718.1_Silent_p.S115S|ARHGAP6_ENST00000380732.3_Silent_p.S115S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	115					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAAGCTGCCGGATGGTGACT	0.657000													13	5					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026297	16026297	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:16026297T>A	ENST00000350896.3	-	4	497	c.300A>T	c.(298-300)aaA>aaT	p.K100N	MSR1_ENST00000262101.5_Missense_Mutation_p.K100N|MSR1_ENST00000355282.2_Missense_Mutation_p.K100N|MSR1_ENST00000381998.4_Missense_Mutation_p.K100N|MSR1_ENST00000445506.2_Missense_Mutation_p.K118N|MSR1_ENST00000536385.1_Intron	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	100	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTCATTTCCTTTTCCCGTGA	0.373000													23	135					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197432014	197432014	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197432014G>A	ENST00000273582.5	-	3	617	c.72C>T	c.(70-72)ttC>ttT	p.F24F	KIAA0226_ENST00000296343.5_Silent_p.F84F|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.F84F|KIAA0226_ENST00000389665.5_Silent_p.F84F	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	84					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCTTTCACGAACTGCCAGT	0.562000													6	31					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8120376	8120376	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8120376C>T	ENST00000305253.4	+	10	1476	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I	TUB_ENST00000299506.2_Missense_Mutation_p.T357I|TUB_ENST00000534099.1_Missense_Mutation_p.T363I	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	357					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCATCCTCCACTTTGGAAAGT	0.478000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	53					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414532	105414532	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414532G>A	ENST00000333244.5	-	7	7375	c.7256C>T	c.(7255-7257)cCc>cTc	p.P2419L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTATCTGGGGGCCCTTGAG	0.637000													57	268					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915563	39915563	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915563C>T	ENST00000425673.1	+	17	4028	c.3703C>T	c.(3703-3705)Cct>Tct	p.P1235S	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1264S|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1264					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	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;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAGTCCCCCACCTTCCAGCCG	0.602000													17	90					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138849	126138849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:126138849G>A	ENST00000299308.3	+	9	2838	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D456N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	944						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTCCCACGACTGGGTCTG	0.517000													17	101					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190363562	190363562	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363562C>T	ENST00000412504.2	+	10	1528	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	IL1RAP_ENST00000439062.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R426C|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R426C|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R426C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	426	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ACTGACCCTCCGTGGAGTTTT	0.408000													29	48					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171443857	171443857	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:171443857G>A	ENST00000356327.5	-	7	686	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	PLD1_ENST00000351298.4_Missense_Mutation_p.L206F|PLD1_ENST00000340989.4_Missense_Mutation_p.L206F|PLD1_ENST00000342215.6_Missense_Mutation_p.L206F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	206	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTATATCAAGAAACTCTGTC	0.318000													16	48					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406424	43406424	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43406424C>T	ENST00000244533.3	+	6	2293	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	ABCC10_ENST00000372530.4_Missense_Mutation_p.P673L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	673	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCCAGGAACCCTGGATCCAG	0.582000													40	41					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712421	218712421	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:218712421G>A	ENST00000171887.4	-	17	2896	c.2444C>T	c.(2443-2445)gCc>gTc	p.A815V	TNS1_ENST00000430930.1_Missense_Mutation_p.A815V|TNS1_ENST00000419504.1_Missense_Mutation_p.A815V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	815						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)		GGAGGAAGAGGCTGGGCTCTT	0.597000													29	36					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121151809	121151809	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121151809G>A	ENST00000264233.5	-	29	7743	c.7615C>T	c.(7615-7617)Cat>Tat	p.H2539Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2539					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTTCATCATGGAGTTGAAGG	0.413000								DNA polymerases (catalytic subunits)					28	28					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119005131	119005131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119005131G>A	ENST00000350777.2	+	10	1540	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	493	Interaction with NPAT.		A -> V (in dbSNP:rs100803).		DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCTCCCCCAGCCCCTGAGCC	0.567000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890021	139890021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139890021C>T	ENST00000303045.6	-	3	1076	c.630G>A	c.(628-630)cgG>cgA	p.R210R	COL22A1_ENST00000435777.1_Silent_p.R210R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGCTTGCCCCGGATCTTGT	0.662000										HNSCC(7;0.00092)			21	45					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396326	38396326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:38396326G>A	ENST00000377698.3	+	2	734	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	194					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ATGCAGGGTTGGAAACTTGCC	0.587000													15	87					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66352844	66352844	+	Silent	SNP	C	C	T	rs115207014	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:66352844C>T	ENST00000448504.2	+	6	1399	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L37L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	201					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACGTGGCCCTCCCTCTTTATG	0.483000													12	40					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973853	54973853	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54973853G>A	ENST00000333834.4	-	1	1041	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	308					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTAAGGCGGGCCCTTTTGTC	0.667000													9	47					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668984	53668984	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53668984C>T	ENST00000600412.1	-	2	679	c.564G>A	c.(562-564)caG>caA	p.Q188Q	ZNF665_ENST00000396424.3_Silent_p.Q253Q			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGAATTCTCTGATGACCTG	0.403000													26	172					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432160	10432160	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10432160G>A	ENST00000245503.5	-	27	3975	c.3591C>T	c.(3589-3591)acC>acT	p.T1197T	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.T1197T|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1197					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCTCAGGGTGGCCGCTG	0.562000													26	120					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65715796	65715796	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65715796G>A	ENST00000253247.4	+	2	263	c.148G>A	c.(148-150)Gat>Aat	p.D50N	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	50						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAGGTTTCTGATCAGAAACC	0.323000													10	24					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132697	91132697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91132697G>A	ENST00000373094.1	+	2	2303	c.1458G>A	c.(1456-1458)acG>acA	p.T486T	PCDH11X_ENST00000504220.1_Silent_p.T486T|PCDH11X_ENST00000361724.1_Silent_p.T486T|PCDH11X_ENST00000361655.2_Silent_p.T486T|PCDH11X_ENST00000406881.1_Silent_p.T486T|PCDH11X_ENST00000298274.8_Silent_p.T486T|PCDH11X_ENST00000395337.2_Silent_p.T486T|PCDH11X_ENST00000373088.1_Silent_p.T486T|PCDH11X_ENST00000373097.1_Silent_p.T486T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						TCCAGTTGACGAAAGTAAGTG	0.443000													70	22					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429112	23429112	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429112C>T	ENST00000519973.1	+	4	959	c.761C>T	c.(760-762)cCc>cTc	p.P254L		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	254					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCCACGACCCCCCTGGACGTC	0.672000													3	25					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216453	56216453	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56216453A>G	ENST00000546837.1	-	4	585	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	DNAJC14_ENST00000317287.5_Silent_p.H566H|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Silent_p.H566H|DNAJC14_ENST00000357606.3_Silent_p.H566H																							CCTCAGCAGGATGCAGCCTAT	0.458000													26	118					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892293	79892293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79892293C>T	ENST00000337943.5	-	6	1148	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	PYCR1_ENST00000403172.4_Missense_Mutation_p.G205R|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000329875.8_Missense_Mutation_p.G236R|PYCR1_ENST00000402252.2_Missense_Mutation_p.G263R	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	236					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ATGGTGGCCCCACCAGGAGAG	0.642000													8	32					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443795	20443795	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443795G>A	ENST00000305051.5	+	1	193	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTGGGACTGTCTAG	0.403000													61	119					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417539	150417539	+	Silent	SNP	C	C	T	rs150494282	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150417539C>T	ENST00000307194.5	+	3	587	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGGTCATCGTCTTCACCA	0.642000													8	70					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16948290	16948290	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:16948290C>T	ENST00000377833.4	-	50	7889	c.7824G>A	c.(7822-7824)caG>caA	p.Q2608Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2608	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAATTTCCCTGATTTGGAT	0.413000													8	87					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925041	25925041	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925041C>T	ENST00000356865.6	-	21	4058	c.3947G>A	c.(3946-3948)aGg>aAg	p.R1316K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTGCATCTCCTGGGGGACTT	0.537000													13	100					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985181	72985181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:72985181G>A	ENST00000305632.5	-	7	1241	c.1000C>T	c.(1000-1002)Ccg>Tcg	p.P334S	TBL2_ENST00000432538.1_Missense_Mutation_p.P298S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCGGCACGGCGCGGCACCC	0.602000													20	87					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865925	19865925	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19865925C>T	ENST00000535882.1	-	15	1307	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	TXNRD2_ENST00000542719.1_Silent_p.T407T|TXNRD2_ENST00000400525.1_Silent_p.T414T|TXNRD2_ENST00000400519.1_Silent_p.T436T|TXNRD2_ENST00000400521.1_Silent_p.T437T|TXNRD2_ENST00000400518.1_Silent_p.T407T			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	437					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.T437T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GTCCAGCCACCGTGAACTCCA	0.567000													25	140					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833900	45833900	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45833900G>T	ENST00000397928.1	+	20	3534	c.3089G>T	c.(3088-3090)tGc>tTc	p.C1030F	TRPM2_ENST00000300481.9_Missense_Mutation_p.C1010F|TRPM2_ENST00000300482.5_Missense_Mutation_p.C1030F|TRPM2_ENST00000397932.2_Missense_Mutation_p.C1030F|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1030						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTCTGCCTCTACCTG	0.647000													56	246					9.04393e-38	9.43791e-38	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643054	1643054	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643054G>A	ENST00000399682.1	-	1	314	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	90	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGACACAGCCCCCCTTGG	0.672000													17	115					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73053159	73053159	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:73053159G>A	ENST00000429829.1	-	0	11486					NR_001564.2																						GATTAATTTGGAGCCTCTTAT	0.448000													13	81					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626849	122626849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:122626849G>A	ENST00000303924.4	-	4	1696	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	387						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423000													12	105					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418185	105418185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105418185G>A	ENST00000333244.5	-	7	3722	c.3603C>T	c.(3601-3603)tcC>tcT	p.S1201S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1201						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGAC	0.642000													9	191					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54294260	54294260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:54294260C>T	ENST00000337488.6	+	13	1278	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000507922.1_Missense_Mutation_p.P347S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P347S|FIP1L1_ENST00000306932.6_Missense_Mutation_p.P288S	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	362	Pro-rich.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTTTCCCTCCAGGAGctcc	0.468000			T	PDGFRA	idiopathic hypereosinophilic syndrome								4	44					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411450	74411450	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74411450G>A	ENST00000286544.3	-	3	900	c.702C>T	c.(700-702)gtC>gtT	p.V234V	FAM161B_ENST00000534936.1_Silent_p.V171V	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ATGGCCGAGGGACAGTAATGG	0.662000													4	33					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26518694	26518694	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:26518694C>T	ENST00000376261.3	+	7	1331	c.828C>T	c.(826-828)ttC>ttT	p.F276F	GAD2_ENST00000259271.3_Silent_p.F276F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	276					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCATTGCCTTCACGTCTGAAC	0.448000													18	28					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486286	30486286	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30486286G>A	ENST00000375938.4	+	4	377	c.124G>A	c.(124-126)Gca>Aca	p.A42T	TTLL9_ENST00000535842.1_Missense_Mutation_p.A42T|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000375934.4_Missense_Mutation_p.A24T			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	42	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCAGAGAGCATCGATCCG	0.517000													11	88					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361525	51361525	+	Silent	SNP	G	G	A	rs147547638	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51361525G>A	ENST00000360617.3	+	3	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLK3_ENST00000326003.2_Silent_p.G149G|KLK3_ENST00000595952.1_Silent_p.G106G|KLK3_ENST00000597483.1_Silent_p.G106G|KLK3_ENST00000593997.1_Silent_p.G149G			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	149	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.652000													29	37					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752021	247752021	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247752021G>A	ENST00000320065.1	+	1	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	120			V -> L (in dbSNP:rs1151687).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCGGCTGTGATGTCCTGTG	0.532000													33	149					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44750928	44750928	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44750928G>A	ENST00000372285.3	+	3	259	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	CD40_ENST00000372276.3_Missense_Mutation_p.G63S|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	63					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTTCCTTGCGGTGAAAGCGA	0.537000									Immune Deficiency with Hyper-IgM				10	106					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1049288	1049288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1049288G>A	ENST00000263094.6	+	18	2635	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S	ABCA7_ENST00000435683.2_Missense_Mutation_p.G664S|ABCA7_ENST00000433129.1_Missense_Mutation_p.G802S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	802					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGCACCGCCCGGCCTGAGTCC	0.667000													21	44					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181741312	181741312	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:181741312G>A	ENST00000526775.1	+	36	5192	c.5027G>A	c.(5026-5028)gGc>gAc	p.G1676D	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1627D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1302D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1695D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1695D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1646D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1676D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1695					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAACGCTGCGGCACCGATCTG	0.557000													61	100					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3313153	3313153	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313153G>A	ENST00000378398.3	+	6	757	c.675G>A	c.(673-675)ctG>ctA	p.L225L	PRDM16_ENST00000514189.1_Silent_p.L225L|PRDM16_ENST00000511072.1_Silent_p.L225L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.L224L|PRDM16_ENST00000441472.2_Silent_p.L224L|PRDM16_ENST00000378391.2_Silent_p.L224L|PRDM16_ENST00000270722.5_Silent_p.L224L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	224					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCCCGGCCTGGACGGTAAGA	0.637000			T	EVI1	"""MDS, AML"""								4	6					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934782	150934782	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934782C>T	ENST00000035307.2	+	4	2847	c.1334C>T	c.(1333-1335)aCc>aTc	p.T445I	CHPF2_ENST00000495645.1_Missense_Mutation_p.T437I	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATGGAGTACACCCTGGACCTG	0.657000													12	62					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151779649	151779649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151779649C>T	ENST00000367294.3	+	3	593	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	112							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GTTCTACTCACCGTGGTTGTT	0.328000													27	31					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49098644	49098644	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:49098644G>A	ENST00000262013.7	-	7	1074	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SPAG9_ENST00000357122.4_Missense_Mutation_p.P275L|SPAG9_ENST00000510283.1_Missense_Mutation_p.P132L|SPAG9_ENST00000505279.1_Missense_Mutation_p.P275L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	289					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTATCAGTAGGAATTGTTGC	0.393000													31	138					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696913	39696913	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39696913G>A	ENST00000395670.3	-	35	5007	c.4588C>T	c.(4588-4590)Ctt>Ttt	p.L1530F	KIF21A_ENST00000541463.2_Missense_Mutation_p.L1476F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L1492F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L1516F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L1529F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1529					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACAGTCCCAAGAGCTCCTTCT	0.388000													21	48					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	98155359	98155359	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98155359C>T	ENST00000220763.5	+	8	1577	c.1367C>T	c.(1366-1368)gCt>gTt	p.A456V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	456					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GCTGTTTGGGCTGTTGTTTCT	0.443000													9	89					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071470	161071470	+	Nonsense_Mutation	SNP	G	G	A	rs121912503		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:161071470G>A	ENST00000447678.1	-	3	229	c.109C>T	c.(109-111)Cga>Tga	p.R37*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R37*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1.				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			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)	TACGTGCCTCGATAACTCTGT	0.453000													52	225					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832612	40832612	+	Silent	SNP	C	C	T	rs138478451		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832612C>T	ENST00000332438.4	-	2	67	c.48G>A	c.(46-48)ggG>ggA	p.G16G	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	16						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCTCTTCATCCCCAGAGTAAT	0.592000													5	31					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850172	78850172	+	Silent	SNP	G	G	A	rs45617636	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:78850172G>A	ENST00000286627.5	-	10	2272	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	KCNMA1_ENST00000286628.8_Silent_p.I440I|KCNMA1_ENST00000406533.3_Silent_p.I440I|KCNMA1_ENST00000404857.1_Silent_p.I440I|KCNMA1_ENST00000372443.1_Silent_p.I440I|KCNMA1_ENST00000404771.3_Silent_p.I440I|KCNMA1_ENST00000354353.5_Silent_p.I440I|KCNMA1_ENST00000372440.1_Silent_p.I440I	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	440	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAGAAAAACGATCTCCACAT	0.517000													41	27					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188145	152188145	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188145G>A	ENST00000368801.2	-	3	6035	c.5960C>T	c.(5959-5961)tCt>tTt	p.S1987F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1987					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)			TAAGCCAGAAGAGTGACCGGA	0.577000													27	1081					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689888	42689888	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42689888T>C	ENST00000230381.5	-	1	424	c.185A>G	c.(184-186)aAc>aGc	p.N62S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	62					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TATCAATGAGTTGGGCACAAA	0.507000													23	80					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86315049	86315049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86315049C>T	ENST00000370571.2	-	38	3707	c.3341G>A	c.(3340-3342)cGt>cAt	p.R1114H	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1114H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1114					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCTGGACGACCTCTTTG	0.348000													21	83					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52496734C>T	ENST00000602063.1	-	6	1944	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	ZNF615_ENST00000594083.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R532Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R537Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R543Q(2)|p.R532Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGTCC	0.443000													25	160					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368957	158368957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158368957G>A	ENST00000334438.1	-	1	299	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAACAGCTGGGTGGCACAGG	0.493000													8	47					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239170871	239170871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170871C>T	ENST00000254657.3	-	11	1547	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	PER2_ENST00000254658.3_Silent_p.Q387Q|PER2_ENST00000355768.2_Silent_p.Q387Q|PER2_ENST00000440245.1_Missense_Mutation_p.R423K	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	423	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGAGATTTTCCTGCTCCATGG	0.592000													13	45					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28748832	28748832	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28748832C>T	ENST00000225719.4	+	4	1364	c.1288C>T	c.(1288-1290)Ctt>Ttt	p.L430F	CPD_ENST00000543464.2_Missense_Mutation_p.L183F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	430	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AACTTACAACCTTACAGTAGT	0.343000													15	89					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556780	40556780	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40556780G>A	ENST00000357037.5	-	2	1517	c.1098C>T	c.(1096-1098)agC>agT	p.S366S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	366					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCACGTCGGGGCTGCTCCCGC	0.736000													4	9					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789715	73789715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73789715G>A	ENST00000334126.7	-	23	4274	c.4048C>T	c.(4048-4050)Cct>Tct	p.P1350S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1350S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1350						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGCCATGAGGTAGGCCCCCG	0.453000													21	95					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19427805	19427805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:19427805G>A	ENST00000538714.1	+	10	1187	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G401R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.G153R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.G395R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G395R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G395R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G287R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G287R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	395							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCCCAATACAGGGCCCTTATA	0.458000													17	71					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21499262	21499262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21499262G>A	ENST00000321760.6	+	3	413	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E89K|TPPP2_ENST00000460647.2_Missense_Mutation_p.E89K	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	89						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGTCCAGATGAAGTCCTGGA	0.537000													11	70					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99920267	99920267	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:99920267C>T	ENST00000373004.3	+	6	988	c.560C>T	c.(559-561)cCc>cTc	p.P187L		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	187	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCCGCTGTCCCCACTCACGT	0.527000													6	15					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145665539	145665539	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:145665539T>C	ENST00000265271.5	+	21	3295	c.3129T>C	c.(3127-3129)ccT>ccC	p.P1043P	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1043					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTTGCCTGATGATGACG	0.358000													3	74					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24261404	24261404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24261404G>A	ENST00000295148.4	-	2	1018	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	C2orf44_ENST00000406895.3_Missense_Mutation_p.L321F	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	321							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTCACAAGGACCAAATGT	0.388000			T	ALK	NSCLC								11	61					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74151749	74151749	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74151749G>A	ENST00000269391.6	-	15	1724	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	RNF157_ENST00000319945.6_Missense_Mutation_p.T531I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	531	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAGGAGACGGTGTCAGTGCT	0.622000													18	11					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713533	23713533	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713533C>T	ENST00000256797.4	-	11	1455	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	ERN2_ENST00000457008.2_Silent_p.G381G	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTTCCACTCCCCAGGGTGG	0.622000													60	111					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38461125	38461125	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38461125T>C	ENST00000399017.2	+	5	3112	c.365T>C	c.(364-366)tTg>tCg	p.L122S	TTC3_ENST00000355666.1_Missense_Mutation_p.L122S|TTC3_ENST00000399010.1_Missense_Mutation_p.L122S|TTC3_ENST00000354749.2_Missense_Mutation_p.L122S|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	122					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAGATAAATTTGAAGAAACTA	0.328000													7	25					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425848	72425848	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72425848C>T	ENST00000340595.3	+	20	3040	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y	SLC4A4_ENST00000351898.6_Silent_p.Y908Y|SLC4A4_ENST00000425175.1_Silent_p.Y992Y|SLC4A4_ENST00000264485.5_Silent_p.Y992Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	992						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCATGGACTACCTCTTCTCCC	0.408000													29	107					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554224	140554224	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140554224C>T	ENST00000231137.3	+	1	1982	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		603	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.726000													4	175					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147884	27147884	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27147884C>T	ENST00000288699.6	+	3	549	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H131Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	131					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612000													8	32					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751606	141751606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141751606C>T	ENST00000389484.3	-	16	3573	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	868	LDL-receptor class A 3.				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)		AGGCAGTCATCGTCGCCATCA	0.438000										TSP Lung(27;0.18)			15	89					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565007	37565007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37565007G>A	ENST00000300651.6	-	17	3690	c.3467C>T	c.(3466-3468)tCt>tTt	p.S1156F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1156	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTTATGGGAGAGGAGCCTGG	0.468000										HNSCC(31;0.082)			13	45					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427456	103427456	+	Missense_Mutation	SNP	C	C	T	rs149000575		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103427456C>T	ENST00000358392.2	-	41	3487	c.3170G>A	c.(3169-3171)gGa>gAa	p.G1057E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1045E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G929E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1006E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1045	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCCCCTCCTTTCAGTCC	0.388000													5	36					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488000													8	71					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587687	47587687	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587687C>T	ENST00000371917.4	+	10	1221	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	407					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGTGGTTTCCCTGCAGCTGC	0.443000													40	120					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5550825	5550825	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5550825G>A	ENST00000379019.4	-	12	1329	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	373	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTAAGATCATGATATACCACG	0.353000													10	96					0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54971294	54971294	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54971294G>A	ENST00000547431.1	-	6	367	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000243052.3_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GTGGAGCAGGGAAATCCTCCC	0.552000													53	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697955	113697955	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697955C>A	ENST00000297405.5	-	15	2406	c.2162G>T	c.(2161-2163)tGc>tTc	p.C721F	CSMD3_ENST00000352409.3_Missense_Mutation_p.C721F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C617F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C681F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	721	CUB 4.					integral to membrane|plasma membrane		p.C681Y(1)|p.C721Y(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						GTTAGACAGGCAGGGAACTGG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	81					1.02788e-11	1.05437e-11	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526913	23526913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23526913G>A	ENST00000296682.3	+	11	1898	c.1716G>A	c.(1714-1716)agG>agA	p.R572R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	572					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						TTCACCAGAGGATACACACAG	0.562000										HNSCC(3;0.000094)			63	89					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816815	101816815	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816815C>T	ENST00000370418.3	-	6	1217	c.966G>A	c.(964-966)cgG>cgA	p.R322R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCAGCCACTCCCGCTGTAACT	0.453000													196	96					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23793208	23793208	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793208G>A	ENST00000397276.2	+	5	689	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	PABPN1_ENST00000216727.4_Missense_Mutation_p.V226M|PABPN1_ENST00000557702.1_Missense_Mutation_p.V98M|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.V253M|PABPN1_ENST00000556821.1_Missense_Mutation_p.V98M|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.V253M					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAAAGAGTCAGTGAGGACTTC	0.413000													10	65					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918333	70918333	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70918333G>A	ENST00000334414.6	-	33	6587	c.6543C>T	c.(6541-6543)gtC>gtT	p.V2181V	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000538708.1_Silent_p.V1873V|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Silent_p.V1873V|PTPRB_ENST00000550857.1_Silent_p.V1873V|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V2093V|PTPRB_ENST00000261266.5_Silent_p.V1963V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963					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)			TTGCTCTGAGGACATCTCTTA	0.428000													6	65					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66319003	66319003	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66319003G>A	ENST00000513398.1	+	0	364				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACCCAGGTGAGAGGCTGCCTA	0.547000													3	22					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20131060	20131060	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20131060C>A	ENST00000345530.3	-	25	3082	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H	WDR35_ENST00000281405.4_Missense_Mutation_p.Q978H|WDR35_ENST00000416055.2_Missense_Mutation_p.Q462H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	989										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCGCTGGGCATTCT	0.338000													15	102					9.16793e-09	9.34397e-09	1	1	0
SULT1C2	6819	broad.mit.edu	37	2	108917299	108917299	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108917299G>A	ENST00000251481.6	+	4	736	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SULT1C2_ENST00000437390.2_Missense_Mutation_p.E109K|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Intron	NM_001056.3	NP_001047.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	95					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E95K(1)		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						TAAAGGTGTGGAAAAAGCCAA	0.488000													42	69					0	0	1	0	0
CTDSP2	10106	broad.mit.edu	37	12	58220853	58220853	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58220853C>A	ENST00000398073.2	-	4	583	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	94					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCTCTGTCACCTCTGGGAGC	0.493000													34	70					2.20474e-14	2.27274e-14	1	1	0
GBGT1	26301	broad.mit.edu	37	9	136029195	136029195	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136029195C>T	ENST00000372043.3	-	7	1079	c.794G>A	c.(793-795)gGg>gAg	p.G265E	GBGT1_ENST00000372040.3_Silent_p.R271R|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Silent_p.R254R|GBGT1_ENST00000472281.1_5'UTR	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCATATACCCTGGCCACCT	0.592000													10	96					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173829	104173829	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:104173829C>T	ENST00000020673.5	-	5	1776	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	PSD_ENST00000406432.1_Missense_Mutation_p.G417D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	417					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATAGGAGGTGCCTTTGGCCCG	0.622000													16	45					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297819	197297819	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197297819C>T	ENST00000367400.3	+	2	473	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CRB1_ENST00000535699.1_Missense_Mutation_p.S44F|CRB1_ENST00000538660.1_Missense_Mutation_p.S113F|CRB1_ENST00000367399.2_Missense_Mutation_p.S113F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	113	EGF-like 3.				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						ACCATTGGTTCCTGTGGCAAG	0.498000													17	28					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3187612	3187612	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3187612A>C	ENST00000356443.4	-	5	1128	c.795T>G	c.(793-795)caT>caG	p.H265Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.H265Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.H265Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	265						striated muscle myosin thick filament	structural constituent of muscle			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						TCAGCTTGGCATGATATGTCT	0.358000													13	48					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121538	38121538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121538C>T	ENST00000406386.3	+	7	3230	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	992					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCCGAACTTCCTCACCTGTG	0.647000													23	119					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981653	56981653	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56981653G>A	ENST00000559237.1	-	7	1159	c.476C>T	c.(475-477)tCa>tTa	p.S159L	ZNF280D_ENST00000267807.7_Missense_Mutation_p.S172L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S159L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S172*(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATAAAAATGAACTTTCACT	0.279000													4	42					0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57389990	57389990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57389990C>T	ENST00000360096.2	+	4	634	c.320C>T	c.(319-321)aCc>aTc	p.T107I		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	171							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATACCCTCCACCATGCAAGAT	0.488000													8	50					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100179847	100179847	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100179847C>T	ENST00000325103.6	-	18	2045	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	HPS1_ENST00000361490.4_Silent_p.E604E|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	604					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGAAATCCCCCTCCTGGAACA	0.582000									Hermansky-Pudlak syndrome				58	102					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621571	74621571	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74621571G>A	ENST00000156626.7	-	9	1843	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	548					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GATCAGAAAAGCGCTCATGGC	0.488000													40	33					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883697	228883697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228883697G>A	ENST00000392056.3	-	7	1919	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	SPHKAP_ENST00000344657.5_Silent_p.L625L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	625						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTAAAACCAGAGCAGCCTCC	0.502000													7	28					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410575	5410575	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:5410575G>A	ENST00000399537.4	-	11	3998	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	TNRC18_ENST00000430969.1_Missense_Mutation_p.S1217F			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1217							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)		TGGACACTCAGAGGGCTCTGC	0.692000													11	82					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558982	140558982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140558982C>T	ENST00000239444.2	+	1	1612	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		456					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S456F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.607000													53	434					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685539	248685539	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248685539G>A	ENST00000343414.4	+	1	624	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	198					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)			CAACGAGGCAGAACTCTTTGT	0.473000													41	51					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98422128	98422128	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:98422128G>A	ENST00000186436.5	-	20	2322	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	698						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTGTGAGAAGGAATTCATAA	0.333000													36	142					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256961	27256961	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:27256961C>T	ENST00000361042.4	+	9	1417	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	WASF3_ENST00000335327.5_Missense_Mutation_p.P401S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	401	Poly-Pro.				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)		CCCGGGCCCACCACCTCCCCC	0.706000													20	46					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141274580	141274580	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141274580A>G	ENST00000389484.3	-	50	8998	c.8026_splice	c.e50-1	p.V2676_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2676					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)		TTTGTTTTGAACTGTGATAAA	0.299000										TSP Lung(27;0.18)			11	25					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58539249	58539249	+	Missense_Mutation	SNP	T	T	A	rs144286983		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58539249T>A	ENST00000083182.3	-	8	1145	c.858A>T	c.(856-858)aaA>aaT	p.K286N	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	286					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TATCAGAATATTTTGGGTGTT	0.284000													66	165					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369997	10369997	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10369997C>T	ENST00000255381.2	-	3	176	c.66G>A	c.(64-66)aaG>aaA	p.K22K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	22	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAATTCGCTCCTTTTCAGACT	0.493000													27	104					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075562	83075562	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83075562C>T	ENST00000369750.3	+	2	1501	c.884C>T	c.(883-885)cCc>cTc	p.P295L	TPBG_ENST00000543496.1_Missense_Mutation_p.P295L|TPBG_ENST00000535040.1_Missense_Mutation_p.P295L			Q13641	TPBG_HUMAN	trophoblast glycoprotein	295	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GACAACAATCCCTGGGTCTGC	0.552000													13	67					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45650062	45650062	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45650062C>T	ENST00000297323.7	+	3	896	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.H67Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	292					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAGGATTTTCCACAAGATTTA	0.572000													45	99					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493000													251	72					0	0	1	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342695	16342695	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:16342695C>T	ENST00000475953.1	+	0	337				C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA	NR_027667.1																						GTTCCCCGGCCCACAGTGGGG	0.617000													15	81					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62188887	62188887	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62188887T>C	ENST00000474889.1	+	12	1795	c.1418T>C	c.(1417-1419)aTc>aCc	p.I473T	PTPRG_ENST00000295874.10_Missense_Mutation_p.I473T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	473					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGGCCCCCATCAGCTCGGGG	0.587000													21	68					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887148	123887148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123887148G>A	ENST00000320891.4	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TGTACACCCTGAGAAACAAGG	0.438000													11	93					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396635	136396635	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396635C>T	ENST00000264160.4	+	14	1532	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	R3HDM1_ENST00000410054.1_Silent_p.L332L|R3HDM1_ENST00000409478.1_Silent_p.L344L|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Silent_p.L388L|R3HDM1_ENST00000329971.3_Silent_p.L344L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	388							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AATCTCAGTCCTGACAAGAGG	0.458000													34	102					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73053158	73053158	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:73053158G>A	ENST00000429829.1	-	0	11487					NR_001564.2																						TGATTAATTTGGAGCCTCTTA	0.448000													12	79					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40714868	40714868	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40714868C>T	ENST00000298910.7	+	35	5106	c.5048C>T	c.(5047-5049)cCc>cTc	p.P1683L		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1683					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAGAGCTTCCCCATTGTGAG	0.383000													25	128					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33039805	33039805	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33039805G>A	ENST00000242209.4	+	8	1474	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	FKBP9_ENST00000538443.1_Silent_p.E297E|FKBP9_ENST00000490776.2_Silent_p.E203E|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.E488E	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	435	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTCTCAGAGAGATGTGCGTTG	0.502000													19	105					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934475	56934475	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934475C>T	ENST00000333201.9	+	5	658	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ZNF583_ENST00000291598.7_Missense_Mutation_p.L150F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAAAGAAATCCTTCCAGAAGT	0.363000													16	112					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:14776177C>T	ENST00000380881.4	-	26	5285	c.4470G>A	c.(4468-4470)cgG>cgA	p.R1490R	FREM1_ENST00000380880.3_Silent_p.R1489R|FREM1_ENST00000380894.1_Silent_p.R25R|FREM1_ENST00000422223.2_Silent_p.R1489R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1489					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R1490R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527000													20	37					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115456614	115456614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115456614G>A	ENST00000369522.3	+	20	1906	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E556K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	556					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGCAAGAAGAAAGGATGTT	0.244000													9	28					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583804	35583804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:35583804G>A	ENST00000287272.2	+	9	1251	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	UNC5D_ENST00000416672.1_Missense_Mutation_p.D485N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D413N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D475N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D56N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D480N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	480					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)		CCCTTTGTCGGACATCAAAGT	0.522000													7	30					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541713	44541713	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:44541713G>A	ENST00000436261.1	-	4	716	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	186					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CACTCATAGGGTTTCTCTCCA	0.458000													9	25					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120782185	120782185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120782185G>A	ENST00000310396.5	+	16	2512	c.2045G>A	c.(2044-2046)gGt>gAt	p.G682D	CPED1_ENST00000450913.2_Missense_Mutation_p.G682D|CPED1_ENST00000423795.1_Missense_Mutation_p.G462D	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACAGCATGTGGTTTTGTGCAG	0.438000													43	93					0	0	1	0	0
PTRH1	138428	broad.mit.edu	37	9	130476448	130476448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130476448C>T	ENST00000423807.1	-	4	893	c.530G>A	c.(529-531)tGg>tAg	p.W177*	PTRH1_ENST00000419060.1_Silent_p.L192L|C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000543175.1_Silent_p.L192L			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	21					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						TGGCTCGATCCAGCAACAGAG	0.667000													5	37					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236563	155236563	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236563G>A	ENST00000368361.4	-	7	1110	c.795C>T	c.(793-795)caC>caT	p.H265H	CLK2_ENST00000355560.4_Silent_p.H263H|CLK2_ENST00000361168.5_Silent_p.H264H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.H265H			P49760	CLK2_HUMAN	CDC-like kinase 2	265	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCGCACTTGGTGGATGGGGT	0.557000								Other conserved DNA damage response genes					16	22					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4620535	4620535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620535C>T	ENST00000269260.2	+	6	614	c.381C>T	c.(379-381)tcC>tcT	p.S127S	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.S148S|ARRB2_ENST00000346341.2_Silent_p.S112S|ARRB2_ENST00000381488.6_Silent_p.S112S|ARRB2_ENST00000575877.1_Silent_p.S127S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	127					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TTCCATGCTCCGTCACACTGC	0.572000													12	87					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56638205G>A	ENST00000267116.7	-	25	2858	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCCTTCCCTCGATACAGCAGA	0.517000													24	32					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134002527	134002527	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134002527C>T	ENST00000398844.2	+	3	868	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SEC24A_ENST00000322887.4_Missense_Mutation_p.P194S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	194	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTACCTCCCTTAGTGAA	0.527000													17	93					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325830	57325830	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325830C>T	ENST00000326441.9	-	10	4343	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	PEG3_ENST00000598410.1_Missense_Mutation_p.G1203E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1201E|PEG3_ENST00000423103.2_Missense_Mutation_p.G1327E|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1327					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTATAGCTCCTTTGAGGGG	0.428000													18	69					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578891	169578891	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169578891C>T	ENST00000263686.6	-	8	1221	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.G333E|SELP_ENST00000367794.2_Missense_Mutation_p.G333E|SELP_ENST00000367786.2_Missense_Mutation_p.G333E|SELP_ENST00000367793.2_Missense_Mutation_p.G333E|SELP_ENST00000367788.2_Missense_Mutation_p.G333E|SELP_ENST00000458599.2_Missense_Mutation_p.G333E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	395	Sushi 4.				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)	ATCCATGCTTCCGTGGACAGG	0.488000													4	34					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395247	94395247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94395247G>A	ENST00000267594.5	+	3	1109	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FAM181A_ENST00000557719.1_Missense_Mutation_p.G206S|FAM181A_ENST00000556222.1_Missense_Mutation_p.G206S|FAM181A_ENST00000557000.2_Missense_Mutation_p.G206S	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	268										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTCCTTGGTGGGCCGCGTCAA	0.647000													7	41					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696750	99696750	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99696750A>G	ENST00000303887.5	-	5	1123	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	MCM7_ENST00000343023.6_Silent_p.L160L|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	160					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ACAGTTACCAACTTCCCCACA	0.527000													34	54					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23465357	23465357	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23465357G>A	ENST00000299088.6	-	3	1147	c.718C>T	c.(718-720)Cca>Tca	p.P240S	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P240S|C14orf93_ENST00000397382.4_Missense_Mutation_p.P240S|C14orf93_ENST00000397377.1_Missense_Mutation_p.P60S|C14orf93_ENST00000397379.3_Missense_Mutation_p.P240S|C14orf93_ENST00000341470.4_Missense_Mutation_p.P240S|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	240						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCATTTTCTGGTCCTGTCTCT	0.602000													12	96					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30941539	30941539	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30941539C>T	ENST00000338343.4	+	7	1322	c.935C>T	c.(934-936)tCc>tTc	p.S312F	FBXL19_ENST00000565690.1_Missense_Mutation_p.S196F|FBXL19_ENST00000562319.1_Missense_Mutation_p.S312F|FBXL19_ENST00000380310.2_Missense_Mutation_p.S332F|FBXL19_ENST00000471231.2_Missense_Mutation_p.S20F			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	332							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GACTCAGACTCCGACTCCGAC	0.667000													14	57					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42598031	42598031	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42598031C>T	ENST00000389341.5	-	12	1166	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	POU2F2_ENST00000529067.1_Missense_Mutation_p.G367D|POU2F2_ENST00000529952.1_Missense_Mutation_p.G383D|POU2F2_ENST00000526816.2_Missense_Mutation_p.G383D|POU2F2_ENST00000342301.4_Missense_Mutation_p.G383D|POU2F2_ENST00000533720.1_Missense_Mutation_p.G367D|POU2F2_ENST00000560558.1_Missense_Mutation_p.G328D|POU2F2_ENST00000560398.1_Missense_Mutation_p.G389D	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	383					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTCCCCGCGCCCCCTTGGGG	0.617000													17	88					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620991	56620991	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56620991C>T	ENST00000321691.3	-	1	738	c.557G>A	c.(556-558)gGa>gAa	p.G186E	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	186										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTCTGACTCCTTGGGGGTT	0.433000													33	154					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72459528	72459528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:72459528C>T	ENST00000377197.3	+	2	335	c.248C>T	c.(247-249)aCc>aTc	p.T83I	C9orf135_ENST00000527647.1_Missense_Mutation_p.T83I|C9orf135_ENST00000466872.2_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	83						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CGACTGGGAACCGATGAATCC	0.398000													42	73					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325692	21325692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21325692C>T	ENST00000256958.2	+	3	289	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	65					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.L65I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATCCTCTTCTCTTGTTGGTTT	0.323000													26	38					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477474	78477474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78477474C>T	ENST00000377211.4	-	4	1040	c.888G>A	c.(886-888)tgG>tgA	p.W296*	EDNRB_ENST00000446573.1_Nonsense_Mutation_p.W206*|EDNRB_ENST00000334286.5_Nonsense_Mutation_p.W206*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	206					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TAATTCTACTCCAAGAAGCAA	0.368000													24	132					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3193185	3193185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3193185G>A	ENST00000398659.4	-	10	1305	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Silent_p.L362L			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	362							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAGGCAAACAGCCACGGGTCA	0.622000													4	16					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	383653	383653	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:383653C>T	ENST00000256509.2	+	7	1209	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CHL1_ENST00000397491.2_Silent_p.Y189Y	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	189	Ig-like C2-type 2.				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)		GAGATCTATACTTCGCAAACG	0.383000													4	17					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45765889	45765889	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45765889T>C	ENST00000357450.4	-	15	2364	c.2365A>G	c.(2365-2367)Att>Gtt	p.I789V	SMC1B_ENST00000404354.3_Missense_Mutation_p.I789V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	789					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATTCACGAATATTTTCCACG	0.264000													19	22					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52639266	52639266	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639266C>T	ENST00000331817.5	+	7	1238	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	352	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GATGCTCGTGCCAAGCAGGAG	0.652000													8	59					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412481	103412481	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103412481G>A	ENST00000358392.2	-	42	3553	c.3236C>T	c.(3235-3237)aCa>aTa	p.T1079I	COL11A1_ENST00000370096.3_Missense_Mutation_p.T1067I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T951I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1028I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1067	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGCCAGCTGTACCTGCTGA	0.458000													3	19					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4620534	4620534	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620534C>T	ENST00000269260.2	+	6	613	c.380C>T	c.(379-381)tCc>tTc	p.S127F	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.S148F|ARRB2_ENST00000346341.2_Missense_Mutation_p.S112F|ARRB2_ENST00000381488.6_Missense_Mutation_p.S112F|ARRB2_ENST00000575877.1_Missense_Mutation_p.S127F|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	127					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTTCCATGCTCCGTCACACTG	0.572000													13	87					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639210	3639210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3639210G>A	ENST00000294008.3	-	12	5069	c.4429C>T	c.(4429-4431)Ccc>Tcc	p.P1477S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1477	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCGGATGGGGGTGGTGTCC	0.662000								Direct reversal of damage					43	222					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62165597	62165597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:62165597C>T	ENST00000261517.5	-	78	10499	c.10426G>A	c.(10426-10428)Gga>Aga	p.G3476R	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3433R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3476R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3433R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3476					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATACAACTCCTGCTGCacca	0.373000													24	183					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105224670	105224670	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105224670G>A	ENST00000262903.4	-	17	2086	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	604	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATTGGACAGAATATCAAAC	0.338000													10	38					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325767	78325767	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78325767G>A	ENST00000255189.3	-	11	1802	c.1774C>T	c.(1774-1776)Ctt>Ttt	p.L592F	DMGDH_ENST00000380311.4_Missense_Mutation_p.L391F|DMGDH_ENST00000540686.1_Missense_Mutation_p.L212F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	592					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTAATTAAAAGAAACTCCCCA	0.368000													11	29					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154401817	154401817	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154401817G>A	ENST00000368485.3	+	2	668	c.231G>A	c.(229-231)atG>atA	p.M77I	IL6R_ENST00000344086.4_Missense_Mutation_p.M77I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	77	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)			GGGCTGGCATGGGAAGGAGGC	0.647000													12	31					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380737	216380737	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216380737T>C	ENST00000366943.2	-	16	3580	c.3194A>G	c.(3193-3195)cAa>cGa	p.Q1065R	USH2A_ENST00000307340.3_Missense_Mutation_p.Q1065R|USH2A_ENST00000366942.3_Missense_Mutation_p.Q1065R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1065	Fibronectin type-III 1.				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)		AGAAGAACTTTGAACTTGTCC	0.413000										HNSCC(13;0.011)			14	67					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169460	45169460	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169460C>T	ENST00000260653.3	+	1	559	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	73					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				cTCCAGGGCCCCCCCGGAAGA	0.756000													9	9					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461243	119461243	+	Missense_Mutation	SNP	C	C	T	rs3747835	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:119461243C>T	ENST00000450136.1	+	2	1383	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408C|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAAGGAAATCCGCCGCAGCCC	0.512000													26	159					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689546	60689546	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:60689546G>A	ENST00000335712.6	-	4	728	c.501C>T	c.(499-501)ccC>ccT	p.P167P	BCL11A_ENST00000359629.5_Silent_p.P167P|BCL11A_ENST00000538214.1_Silent_p.P133P|BCL11A_ENST00000537768.1_Silent_p.P15P|BCL11A_ENST00000358510.4_Silent_p.P133P|BCL11A_ENST00000356842.4_Silent_p.P167P|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	167	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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)			TGTAGCTGCTGGGCTCATCTT	0.423000			T	IGH@	B-CLL								16	90					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190376	27190376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190376G>A	ENST00000339276.4	+	1	744	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	225					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCTGCTGCGAGACAACCTGAC	0.652000													18	53					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358821	28358821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28358821G>A	ENST00000261609.7	-	91	14025	c.13917C>T	c.(13915-13917)ctC>ctT	p.L4639L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4639	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATTCATGGAGTCTGGAAG	0.537000													7	32					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968650	87968650	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:87968650C>T	ENST00000369577.3	+	8	5346	c.5303C>T	c.(5302-5304)tCt>tTt	p.S1768F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1763F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTATGAATTCTCAAATACTT	0.318000													8	16					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038707	170038707	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:170038707G>A	ENST00000263816.3	-	51	10253	c.9968C>T	c.(9967-9969)cCc>cTc	p.P3323L	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3323					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCTCTGGGATTATCAAA	0.537000													34	64					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755911	140755911	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140755911C>T	ENST00000517434.1	+	1	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_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)			CAGACCTATTCCCACGAGGTC	0.572000													11	69					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359013	178359013	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178359013G>A	ENST00000361362.2	+	5	1229	c.699G>A	c.(697-699)caG>caA	p.Q233Q	ZFP2_ENST00000523286.1_Silent_p.Q233Q|ZFP2_ENST00000520301.1_Silent_p.Q233Q|ZFP2_ENST00000503510.2_Silent_p.Q233Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CAGTTCATCAGAGAACTCATA	0.378000													14	60					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93285445	93285445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93285445G>A	ENST00000322349.8	-	2	341	c.77C>T	c.(76-78)cCt>cTt	p.P26L	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	26					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTGTTTATAGGAGTTGCTGA	0.358000													55	130					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012975	26012975	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26012975G>A	ENST00000374332.4	+	2	915	c.585G>A	c.(583-585)ggG>ggA	p.G195G	MAN1C1_ENST00000263979.3_Silent_p.G15G	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	195					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGCAATGGGGAAAAACGAAC	0.498000													33	95					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11728614	11728614	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11728614T>C	ENST00000361113.5	+	4	1504	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTCGATCCACTTACTTTCGAG	0.433000													20	31					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113294	161113294	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:161113294A>C	ENST00000523217.1	+	2	339	c.97A>C	c.(97-99)Agt>Cgt	p.S33R	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.S33R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	33					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAAACGTCAGTCGGATCCT	0.483000										TCGA Ovarian(5;0.080)			19	64					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221879775	221879775	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:221879775T>C	ENST00000366899.3	-	3	1083	c.845A>G	c.(844-846)aAc>aGc	p.N282S	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	282	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTCACAGAGGTTTTCATGGTT	0.572000													30	71					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7718106	7718106	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718106C>T	ENST00000454689.1	-	0	1046				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CATGCATTTCCTCTGGTACCA	0.473000													12	44					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420170	56420170	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420170C>T	ENST00000407595.2	+	2	1337	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGACCTAGCCCGGAGCACCA	0.642000													28	71					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124819764	124819764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124819764G>A	ENST00000356219.3	-	41	6504	c.6349C>T	c.(6349-6351)Cag>Tag	p.Q2117*	NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Q1671*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Q2101*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.Q2110*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2121					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GACGAGGGCTGGCTCTCAGGC	0.687000													11	16					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109522852	109522852	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109522852C>T	ENST00000257548.5	+	12	1356	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	USP30_ENST00000392784.2_Silent_p.F390F	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	421					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGATGCCCTTCCCTCTCCCAG	0.502000													71	350					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33954558	33954558	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33954558C>T	ENST00000300258.3	-	3	425	c.312G>A	c.(310-312)agG>agA	p.R104R	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CAGATTTCTTCCTGGCTTTCC	0.493000													27	96					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733814	81733814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:81733814G>A	ENST00000327835.3	-	2	247	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	6						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCTCTGACTGAAATGTGAAG	0.408000													63	145					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675278	102675278	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:102675278G>T	ENST00000335263.5	+	3	851	c.771G>T	c.(769-771)acG>acT	p.T257T	WDR20_ENST00000556807.1_Silent_p.T196T|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Silent_p.T288T|WDR20_ENST00000545563.1_Silent_p.T84T|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.T196T|WDR20_ENST00000342702.3_Silent_p.T257T|WDR20_ENST00000424963.2_Silent_p.T133T	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	257										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCACGGTACGATGAAAAGCT	0.557000													34	39					2.47316e-13	2.54363e-13	1	1	0
PARVG	64098	broad.mit.edu	37	22	44585099	44585099	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44585099A>C	ENST00000422871.1	+	6	777	c.353A>C	c.(352-354)cAg>cCg	p.Q118P	PARVG_ENST00000415224.1_Missense_Mutation_p.Q118P|PARVG_ENST00000444313.2_Missense_Mutation_p.Q118P	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	118	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAGTCTGCAGCTGGAGGAG	0.647000													12	26					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101163324	101163324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101163324C>T	ENST00000370508.5	-	7	888	c.861G>A	c.(859-861)caG>caA	p.Q287Q	GOT1_ENST00000543866.1_Silent_p.Q266Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	287					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTTCTCCATCTGGGAAAGGA	0.537000													47	77					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1056930	1056930	+	Silent	SNP	C	C	T	rs146414455		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1056930C>T	ENST00000263094.6	+	34	4842	c.4611C>T	c.(4609-4611)ctC>ctT	p.L1537L	ABCA7_ENST00000435683.2_Silent_p.L1399L|ABCA7_ENST00000433129.1_Silent_p.L1537L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1537					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGGACGTCCTCGTCTCCATCT	0.577000													25	58					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6909313	6909313	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6909313G>A	ENST00000011653.4	+	2	267	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Silent_p.R3R	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	3					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAATGAACCGGGGAGTCCCTT	0.572000													28	33					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330270	66330270	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330270G>A	ENST00000502692.1	+	0	2637				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCTGCAGGGGGAAGTGGAGTT	0.597000													31	176					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540382	6540382	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:6540382C>A	ENST00000263125.5	-	5	617	c.518G>T	c.(517-519)tGc>tTc	p.C173F	PRKCQ_ENST00000397176.2_Missense_Mutation_p.C173F|PRKCQ_ENST00000539722.1_Missense_Mutation_p.C48F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	173					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCAGACAGAGCAAAATGTGGG	0.527000													23	83					3.28513e-13	3.37745e-13	1	1	0
KPNA3	3839	broad.mit.edu	37	13	50299560	50299560	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50299560A>C	ENST00000261667.3	-	7	875	c.461T>G	c.(460-462)gTg>gGg	p.V154G		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	154	NLS binding site (major) (By similarity).			V -> G (in Ref. 3; AAB87693).	interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACTAGACTGCACAACAGCTTG	0.338000													8	36					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98501139	98501139	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98501139C>T	ENST00000359863.4	+	12	1244	c.1036_splice	c.e12+1	p.N345_splice	TRRAP_ENST00000355540.3_Splice_Site_p.N345_splice|TRRAP_ENST00000446306.3_Splice_Site_p.N345_splice	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	345					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAGAAACCGTACGTCCA	0.498000													15	105					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298332	62298332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62298332G>A	ENST00000378024.4	-	5	3831	c.3557C>T	c.(3556-3558)cCt>cTt	p.P1186L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1186					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)				ATGCATCTCAGGCATCTTAAA	0.527000													71	365					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75687336	75687336	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75687336C>T	ENST00000315758.5	+	4	463	c.369C>T	c.(367-369)acC>acT	p.T123T	MDH2_ENST00000432020.2_Silent_p.T123T|MDH2_ENST00000443006.1_Silent_p.T16T	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	123					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	TTGTGGCCACCCTGACCGCTG	0.557000													9	45					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847451	12847451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:12847451G>A	ENST00000379672.5	+	10	1099	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E267K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E267K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAGCGGCCGGGAGATCGCCTT	0.632000													5	34					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256918	140256918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140256918C>T	ENST00000398631.2	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCACATCCCGTTCCACGT	0.672000													30	37					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224760271	224760271	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:224760271C>A	ENST00000233055.4	-	7	777	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	225						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGATGTCCCACATGATGATGC	0.552000													11	61					6.42651e-13	6.60462e-13	1	1	0
C6	729	broad.mit.edu	37	5	41161795	41161795	+	Splice_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41161795C>A	ENST00000263413.3	-	10	1722	c.1458_splice	c.e10+1	p.E486_splice	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Splice_Site_p.E486_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	486	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTACTCTTACCTCAAAGTCAA	0.398000													23	39					1.64293e-13	1.69039e-13	1	1	0
PCCB	5096	broad.mit.edu	37	3	136046022	136046022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136046022C>T	ENST00000471595.1	+	12	1242	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PCCB_ENST00000474833.1_Intron|PCCB_ENST00000490504.1_Silent_p.I351I|PCCB_ENST00000462637.1_Silent_p.I385I|PCCB_ENST00000483687.1_Silent_p.I389I|PCCB_ENST00000251654.4_Silent_p.I408I|PCCB_ENST00000482086.1_Silent_p.I292I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Silent_p.I428I|PCCB_ENST00000468777.1_Silent_p.I439I|PCCB_ENST00000469217.1_Silent_p.I428I			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	408	Carboxyltransferase.		Missing (in PA-2).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ACGGGGGCATCATCCGGCATG	0.522000													33	40					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70970904	70970904	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:70970904G>A	ENST00000276594.2	-	6	1558	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCATGAACATGAAGAATGTGG	0.532000													19	46					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133928244	133928244	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133928244G>A	ENST00000361069.4	+	11	1964	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	611	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGCCTGCAGGAGACCTCCGA	0.687000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	44					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340725	160340725	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340725C>T	ENST00000302101.5	+	2	650	c.204C>T	c.(202-204)cgC>cgT	p.R68R		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	68	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			Agcgccggcgccggcgccgcg	0.746000													7	10					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042964	5042964	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5042964G>A	ENST00000574788.1	+	22	3723	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	USP6_ENST00000332776.4_Missense_Mutation_p.G498E|USP6_ENST00000304328.5_Missense_Mutation_p.G181E|USP6_ENST00000250066.6_Missense_Mutation_p.G498E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	498					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAACACTGCGGAGAGGGTGAG	0.602000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	56					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113239079	113239079	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:113239079C>T	ENST00000369644.1	+	14	2765	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.P635L|MOV10_ENST00000369645.1_Missense_Mutation_p.P635L|MOV10_ENST00000413052.2_Missense_Mutation_p.P635L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	635					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCCCAGTTTCCCATTGATCAC	0.572000													22	79					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900538	900538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:900538C>T	ENST00000338591.3	+	12	2003	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	632	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCATCCTCCCCGACGCTGT	0.667000													7	17					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112610	148112610	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148112610G>A	ENST00000361727.3	+	24	4414	c.3898G>A	c.(3898-3900)Ggg>Agg	p.G1300R	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359R|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1300					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGAAGCAAAGGGGGCGGAGTC	0.542000										HNSCC(39;0.1)			13	73					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755775	149755775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149755775C>T	ENST00000451292.1	+	13	2132	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	TCOF1_ENST00000377797.3_Missense_Mutation_p.P675L|TCOF1_ENST00000504761.2_Missense_Mutation_p.P675L|TCOF1_ENST00000323668.7_Missense_Mutation_p.P598L|TCOF1_ENST00000439160.2_Missense_Mutation_p.P675L|TCOF1_ENST00000513346.1_Missense_Mutation_p.P675L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P598L|TCOF1_ENST00000394269.3_Missense_Mutation_p.P675L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	675					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGACTTCTCCAGCAGGCTCA	0.577000													43	173					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582348	180582348	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:180582348C>T	ENST00000328275.1	+	1	406	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATCCCATCCTCATGAATCA	0.512000													41	64					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283298	33283298	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283298C>A	ENST00000431845.2	-	2	1547	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.V466L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTACCCGGCACACCCAGGCTC	0.622000													31	173					1.62565e-12	1.6688e-12	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7516750	7516750	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:7516750C>T	ENST00000399429.3	-	14	1366	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	409					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)		TACCTTTGGTCCTGGAAATCC	0.463000													44	73					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264338	25264338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:25264338G>A	ENST00000328086.7	-	3	1410	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	203					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCAAGGGCAGGAACCCAGGGA	0.438000													28	158					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30522680	30522680	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30522680G>A	ENST00000375938.4	+	12	1246	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TTLL9_ENST00000535842.1_Silent_p.Q331Q|TTLL9_ENST00000375922.4_Silent_p.Q273Q|TTLL9_ENST00000310998.4_Silent_p.Q296Q|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375934.4_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	331	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGACCAGGACCTCAAGC	0.532000													29	79					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154598	37154598	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:37154598T>C	ENST00000262879.6	+	13	2247	c.1963T>C	c.(1963-1965)Ttt>Ctt	p.F655L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.F433L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F655L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F655L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	655					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACCAATAACTTTTCTGTCCCT	0.363000													40	101					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197160945G>C	ENST00000367405.4	-	2	1273	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAGGTTAGACTTTGTTGA	0.383000													5	27					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675207	17675207	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:17675207G>A	ENST00000262077.2	-	5	780	c.781C>T	c.(781-783)Cct>Tct	p.P261S	NUP153_ENST00000537253.1_Missense_Mutation_p.P261S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	261					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTTTTCCAGGATAAAAAGGA	0.403000													35	50					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887266	11887266	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11887266C>T	ENST00000346436.6	+	10	880	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CLCN6_ENST00000312413.6_Silent_p.L276L|CLCN6_ENST00000376496.3_Silent_p.L276L|CLCN6_ENST00000376487.3_Silent_p.L254L|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	276					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAAGGGCTCACGTGGAAAG	0.552000													11	45					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176945	44176945	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:44176945C>T	ENST00000360029.3	-	2	1567	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	428						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACAGACTTTCTTTTTGGACA	0.418000										HNSCC(17;0.042)			43	183					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135659396	135659396	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:135659396C>A	ENST00000356140.5	+	10	1113	c.977C>A	c.(976-978)gCa>gAa	p.A326E	AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.A268E|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.A268E|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	326					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AATGCCCTGGCATTTTTGGGT	0.294000													17	51					6.33239e-15	6.53518e-15	1	1	0
PGM5P2	595135	broad.mit.edu	37	9	69117731	69117731	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:69117731C>T	ENST00000591037.1	-	0	863					NR_002836.2																						AAGCTTACCTCCATGCATTGC	0.438000													10	364					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630782	19630782	+	Silent	SNP	G	G	A	rs148319333		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630782G>A	ENST00000235835.3	-	7	1038	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	339					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCATCCACGACAGCCGGCT	0.602000													26	42					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356592	48356592	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48356592G>A	ENST00000300433.3	+	6	513	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TMEM92_ENST00000507382.1_Missense_Mutation_p.E135K	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	135	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AACTCCCACAGAGCCACCCCC	0.597000													31	197					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100672660	100672660	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100672660C>T	ENST00000375119.3	-	4	724	c.648G>A	c.(646-648)aaG>aaA	p.K216K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	216					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TAGGTTTCCTCTTAGTGCTAT	0.488000													22	90					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168017	161168017	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161168017C>T	ENST00000367996.4	-	1	829	c.401G>A	c.(400-402)gGa>gAa	p.G134E	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G134E	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	134					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCCGGATCTCCATTGATGGT	0.637000													14	49					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272633	52272633	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52272633G>A	ENST00000598776.1	+	2	1494	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	FPR2_ENST00000340023.6_Missense_Mutation_p.R241Q|FPR2_ENST00000598953.1_Missense_Mutation_p.R241Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	241					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CGTCCCTTACGGGTCCTCACT	0.493000													11	64					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44368775	44368775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44368775C>T	ENST00000350028.4	+	6	611	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	152					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTCCTAATCTTCTTGGTCG	0.428000													39	120					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390169	48390169	+	Missense_Mutation	SNP	C	C	T	rs139362090		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48390169C>T	ENST00000224600.4	-	1	822	c.709G>A	c.(709-711)Ggc>Agc	p.G237S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCGGCCACGCCCCTGGTCTGG	0.657000													10	25					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72310278	72310278	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72310278G>A	ENST00000579490.1	+	12	2047	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	DNAI2_ENST00000446837.2_Missense_Mutation_p.E581K|DNAI2_ENST00000307504.5_Missense_Mutation_p.R386K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E581K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E569K			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	581					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGTCCagaagaagaccaggt	0.587000									Kartagener syndrome				11	45					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81725433	81725433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81725433C>T	ENST00000537098.3	+	11	1514	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.P387L|CMIP_ENST00000398040.4_Missense_Mutation_p.P328L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	447						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAACCCATTCCATTCCCCAAA	0.547000													12	24					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31324148	31324148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31324148G>A	ENST00000412585.2	-	3	443	c.415C>T	c.(415-417)Cag>Tag	p.Q139*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TAGGCGTACTGGTCATGCCCG	0.701000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	8					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911563	53911563	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53911563T>A	ENST00000396408.3	+	4	872	c.755T>A	c.(754-756)tTt>tAt	p.F252Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGCAAGGTCTTTAATTCGAAG	0.403000													16	137					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968741	5968741	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5968741G>A	ENST00000399933.3	-	3	1489	c.1490C>T	c.(1489-1491)cCa>cTa	p.P497L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P497L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	497										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTAATGGGTGGAATTGGAAA	0.378000													46	88					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647932	7647932	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7647932C>T	ENST00000359156.4	-	6	1367	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CD163_ENST00000396620.3_Missense_Mutation_p.E389K|CD163_ENST00000432237.2_Missense_Mutation_p.E389K|CD163_ENST00000541972.1_Missense_Mutation_p.E377K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	389	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.E389*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCTGAATCTCCACCTCAACT	0.493000													19	101					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038398	75038398	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75038398C>T	ENST00000326665.5	-	14	3214	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	999	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCTCTCCTGTGAAGGG	0.537000													17	40					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376723	8376723	+	Missense_Mutation	SNP	G	G	C	rs117679735	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8376723G>C	ENST00000538603.1	-	5	770	c.212C>G	c.(211-213)cCg>cGg	p.P71R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P71R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	71							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCAAAGTTCGGTGGAACCAG	0.547000													26	184					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63976037	63976037	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63976037C>T	ENST00000398590.3	+	10	2100	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	ATXN7_ENST00000487717.1_Missense_Mutation_p.P516L|ATXN7_ENST00000484332.1_Missense_Mutation_p.P371L|ATXN7_ENST00000295900.6_Missense_Mutation_p.P516L|ATXN7_ENST00000538065.1_Missense_Mutation_p.P516L	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	516					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTCATCATCCTCAGCCAGCA	0.572000													9	31					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909465	156909465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156909465G>A	ENST00000368194.3	-	37	5010	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1284F|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S700F|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1284					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTTCCAGAGAACAGAGACC	0.592000													23	37					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5012647	5012647	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5012647C>T	ENST00000380390.1	+	5	732	c.516C>T	c.(514-516)ggC>ggT	p.G172G	MMP26_ENST00000300762.1_Silent_p.G172G			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	172					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTATCTTAGGCCATGCCTTTT	0.478000													58	184					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94041487	94041487	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94041487G>A	ENST00000553484.1	+	17	2308	c.2154G>A	c.(2152-2154)ctG>ctA	p.L718L	UNC79_ENST00000555664.1_Silent_p.L718L|UNC79_ENST00000256339.4_Silent_p.L541L|UNC79_ENST00000393151.2_Silent_p.L718L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	718						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						TCAAAGAGCTGGCAAATCAAA	0.368000													23	30					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511582	61511582	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511582G>A	ENST00000266070.4	-	16	6051	c.5726C>T	c.(5725-5727)cCc>cTc	p.P1909L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1909L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1909	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAACTGAGAGGGAGGGGGGCC	0.647000													16	74					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555478	41555478	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41555478G>A	ENST00000378142.4	+	3	876	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.G198R|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	198						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TAAGAAAGGAGGGCATAATTC	0.343000													14	31					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411360	126411360	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411360C>T	ENST00000394329.3	+	17	13396	c.13383C>T	c.(13381-13383)acC>acT	p.T4461T	FAT4_ENST00000335110.5_Silent_p.T2702T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	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						CGGGAAGGACCTGTGAGATGG	0.632000													17	57					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17976490	17976490	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17976490G>A	ENST00000262608.8	+	2	154	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.E71K|CECR2_ENST00000342247.5_Missense_Mutation_p.E51K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	93					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)		CTGGGAGCTCGAAGAAGGGAA	0.517000													20	19					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179742774	179742774	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179742774C>T	ENST00000420890.2	-	12	1933	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A31T|CCDC141_ENST00000409284.1_Missense_Mutation_p.A606T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	31							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCTTCTCAGCCGAGTCAGAA	0.368000													21	79					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239170870	239170870	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170870C>T	ENST00000254658.3	-	10	1398	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PER2_ENST00000355768.2_Missense_Mutation_p.E388K|PER2_ENST00000440245.1_Silent_p.R423R|PER2_ENST00000254657.3_Silent_p.R423R			O15055	PER2_HUMAN	period circadian clock 2	376					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGAGATTTTCCTGCTCCATG	0.592000													13	43					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848374	83848374	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83848374G>C	ENST00000349129.2	+	21	4873	c.4613G>C	c.(4612-4614)aGt>aCt	p.S1538T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1529T|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1519T|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1538					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCTTTAGTGCTCAGAAA	0.388000													15	55					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24038805	24038805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24038805G>A	ENST00000290691.5	+	7	2261	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	RGL4_ENST00000401461.1_Missense_Mutation_p.G228E	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	364	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCAGGCGGGGAGCTTTAAG	0.657000													3	31					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708321	43708321	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:43708321G>A	ENST00000398437.1	+	11	1745	c.1596_splice	c.e11-1	p.D533_splice	ABCG1_ENST00000347800.2_Splice_Site_p.D372_splice|ABCG1_ENST00000343687.3_Splice_Site_p.D386_splice|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Splice_Site_p.D377_splice|ABCG1_ENST00000340588.4_Splice_Site_p.D495_splice|ABCG1_ENST00000398449.3_Splice_Site_p.D375_splice|ABCG1_ENST00000361802.2_Splice_Site_p.D387_splice			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	387	ABC transmembrane type-2.			R -> A (in Ref. 8; AAC51098).	amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTCCTCAGGACTCCTCGTC	0.602000													16	29					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862636	10862636	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:10862636G>A	ENST00000559480.1	+	0	15																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ACTGGAATTGGAGGATCCTGT	0.498000													16	200					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8244402	8244402	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244402G>A	ENST00000339754.5	+	4	417	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACAGATCGGGGAGATGCCT	0.502000													6	28					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154641439	154641439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:154641439G>A	ENST00000274068.4	-	5	519	c.143C>T	c.(142-144)tCc>tTc	p.S48F	RNF175_ENST00000347063.4_Missense_Mutation_p.S176F|RNF175_ENST00000506505.1_5'UTR			Q8N4F7	RN175_HUMAN	ring finger protein 175	176						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AAAATCCATGGAATCTCTAGC	0.398000													16	62					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086395	126086395	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126086395G>A	ENST00000339582.2	-	10	3270	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	GRM8_ENST00000444921.2_Missense_Mutation_p.S821F|GRM8_ENST00000358373.3_Missense_Mutation_p.S821F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	821					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAAACTCATGGAGACAGTAAG	0.368000										HNSCC(24;0.065)			11	37					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627339	30627339	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30627339G>A	ENST00000376442.3	-	12	2112	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.I158I	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	639	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612000													8	14					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967212	106967212	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:106967212C>T	ENST00000390622.2	-	0	491																											CCACTCAAGCCCTTGTCCAGG	0.557000													55	142					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821332	206821332	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206821332G>A	ENST00000367106.1	+	4	1202	c.729G>A	c.(727-729)caG>caA	p.Q243Q	DYRK3_ENST00000367108.3_Silent_p.Q243Q|DYRK3_ENST00000367109.2_Silent_p.Q263Q|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	263	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAAGAAACAGGATAAAACTG	0.443000													24	110					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100995507	100995507	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:100995507C>T	ENST00000193391.7	-	5	771		c.e5+1			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAAAGTATACCTCCCAATGT	0.318000													20	45					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740512	39740512	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740512C>T	ENST00000167586.6	-	3	848	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	254	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TTCTCACCTCCTCGTGGTTCT	0.552000													14	126					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326786	37326786	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37326786C>T	ENST00000262825.5	+	8	1161	c.944C>T	c.(943-945)cCc>cTc	p.P315L	CSF2RB_ENST00000536485.1_Missense_Mutation_p.P256L|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P309L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P315L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	309					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCAGATTCCCGTGCCCGAC	0.612000													13	28					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2729471	2729471	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:2729471G>A	ENST00000382082.3	+	2	1620	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	461						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGGCTACGGAGACATGTAC	0.517000													17	79					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388000													132	445					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068060	9068060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9068060C>T	ENST00000397910.4	-	3	19589	c.19386G>A	c.(19384-19386)tgG>tgA	p.W6462*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6464	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATGTGTCCCAGGTAAGGG	0.483000													39	119					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49719907	49719907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49719907C>T	ENST00000551245.1	+	6	793	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	TROAP_ENST00000257909.3_Nonsense_Mutation_p.Q228*			Q12815	TROAP_HUMAN	trophinin associated protein	228					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCCAGTTTCCAGGAGCTAAG	0.527000													31	131					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080587	42080587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:42080587G>A	ENST00000400454.1	-	2	631	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	52	Ig-like C2-type 1.				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)				GTCACAGGAGGGATGCCTGCT	0.592000													21	78					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56985658	56985658	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985658C>T	ENST00000299721.3	-	1	223	c.37G>A	c.(37-39)Gta>Ata	p.V13I	CPLX4_ENST00000587244.1_Missense_Mutation_p.V13I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	13					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AAATTCTTTACCTGGTTACTT	0.373000													13	50					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444535	71444535	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:71444535C>T	ENST00000304743.2	+	6	1927	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	PCNX_ENST00000238570.5_Missense_Mutation_p.P494L|PCNX_ENST00000439984.3_Missense_Mutation_p.P494L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	494						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATAAAAATCCCCATGCAAAT	0.493000													10	27					0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25268016	25268016	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:25268016C>A	ENST00000222674.2	-	1	89	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	15					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTGAAGTGGCTAAAGTCAAT	0.303000													13	56					2.27111e-07	2.3095e-07	1	1	0
FRG1BP	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	114					0.000602214	0.000607828	1	1	0
TULP2	7288	broad.mit.edu	37	19	49387077	49387077	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49387077C>T	ENST00000221399.3	-	11	1353	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGTCATTTTCCGAGGCCCCA	0.512000													26	87					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964694	3964694	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3964694G>A	ENST00000545797.2	-	3	601	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	DAPK3_ENST00000301264.3_Missense_Mutation_p.L120F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGCTTGAGGAACTGGGTG	0.632000													13	93					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049627	2049627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2049627G>A	ENST00000563630.1	-	9	2000	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ZNF598_ENST00000562103.1_Silent_p.A586A|ZNF598_ENST00000431526.1_Silent_p.A641A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	641						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCGAGCAGGGGCCGGGCCCT	0.711000													6	27					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23933835	23933835	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:23933835G>A	ENST00000379211.3	+	4	784	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	79										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGTAACACATGAAATACTGAA	0.378000													11	14					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362877	55362877	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:55362877C>T	ENST00000290552.7	+	5	2319	c.987C>T	c.(985-987)ttC>ttT	p.F329F	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAGCTGACTTCCTCTCGGCGG	0.647000													24	46					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10772810	10772810	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10772810G>A	ENST00000075503.3	-	11	1722	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	401						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATACAGTTCAGGTACCACCAA	0.517000										HNSCC(73;0.22)			46	233					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													31	44					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39529949	39529949	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:39529949G>A	ENST00000216133.5	-	6	908	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	CBX7_ENST00000401405.3_Missense_Mutation_p.R142C|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	235	Required for cellular lifespan extension.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TGGGCCTCGCGGAAGGTGACG	0.597000													27	73					0	0	1	0	0
MIR527	574497	broad.mit.edu	37	19	54257317	54257317	+	RNA	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54257317G>C	ENST00000385244.1	+	0	46					NR_030219.1																						TTGTCTAAAAGAAAAGAAAGT	0.428000													90	144					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917309	7917309	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7917309C>T	ENST00000254854.4	+	12	2525	c.2375C>T	c.(2374-2376)cCg>cTg	p.P792L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	792	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGAGCAGCCGGAACTTCGG	0.637000													9	81					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300221	18300221	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18300221G>A	ENST00000441493.2	-	26	5558	c.5206C>T	c.(5206-5208)Ccc>Tcc	p.P1736S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1736						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGGACTTGGGTTTGGCGGCG	0.622000													9	31					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910606	57910606	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57910606C>T	ENST00000366197.5	+	3	1201	c.951C>T	c.(949-951)ttC>ttT	p.F317F	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.F329F|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGAAATTCTTTATGGACA	0.423000													15	86					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164563G>A	ENST00000395297.1	-	13	2325	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567000										HNSCC(54;0.14)			8	44					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103310705	103310705	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103310705C>T	ENST00000520539.1	-	26	3945	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	UBR5_ENST00000521922.1_Silent_p.G1107G|UBR5_ENST00000220959.4_Silent_p.G1113G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1113					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGGGGTCATCCCTCTTGCAT	0.308000													13	37					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267511	150267511	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267511C>T	ENST00000367351.3	+	3	426	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	118	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGGCAGAACCCCTCACCCTG	0.507000													13	74					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	432045	432045	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:432045G>A	ENST00000332826.6	-	5	444	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	120						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TCACGATTCGGATTCTGAGAC	0.637000													8	45					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22277594	22277594	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:22277594G>A	ENST00000407142.1	-	6	1792	c.732C>T	c.(730-732)ttC>ttT	p.F244F	PPM1F_ENST00000538191.1_Silent_p.F308F|PPM1F_ENST00000263212.5_Silent_p.F412F			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	412					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTCCCTGAGGAAGACCACCA	0.687000													39	60					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23569515	23569515	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23569515C>T	ENST00000395878.3	+	2	651	c.270C>T	c.(268-270)atC>atT	p.I90I	UBFD1_ENST00000219638.4_Silent_p.I314I|UBFD1_ENST00000567264.1_Silent_p.I90I|UBFD1_ENST00000567212.1_Silent_p.I81I|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	90	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ACTTGAAGATCATCTGGAATA	0.637000													18	39					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874948	45874948	+	Silent	SNP	G	G	A	rs143651717	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45874948G>A	ENST00000311275.7	-	14	2281	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	ZMYND8_ENST00000262975.4_Silent_p.S676S|ZMYND8_ENST00000471951.2_Silent_p.S696S|ZMYND8_ENST00000446994.2_Silent_p.S613S|ZMYND8_ENST00000372023.3_Silent_p.S671S|ZMYND8_ENST00000536340.1_Silent_p.S703S|ZMYND8_ENST00000352431.2_Silent_p.S696S|ZMYND8_ENST00000540497.1_Silent_p.S624S|ZMYND8_ENST00000360911.3_Silent_p.S671S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Silent_p.S671S|ZMYND8_ENST00000396281.4_Silent_p.S676S|ZMYND8_ENST00000461685.1_Silent_p.S696S|ZMYND8_ENST00000355972.4_Silent_p.S676S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	676							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCCTTTTCGGAAAAGTCCT	0.512000													43	249					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924822	226924822	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:226924822A>C	ENST00000429204.1	-	2	665	c.338T>G	c.(337-339)gTg>gGg	p.V113G	ITPKB_ENST00000272117.3_Missense_Mutation_p.V113G|ITPKB_ENST00000366784.1_Missense_Mutation_p.V113G	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	113							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGCTGCCACCACCTGCTGCCG	0.667000													19	29					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22446804	22446804	+	RNA	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22446804C>G	ENST00000390443.3	+	0	106																											TGAAACTTTTCAAAGCCAGGG	0.522000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875277	96875277	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96875277C>T	ENST00000267584.4	+	4	541	c.498_splice	c.e4+1	p.P166_splice	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	166					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCCTGGACCCCGTAAGTAGA	0.478000													17	48					0	0	1	0	0
C12orf76	400073	broad.mit.edu	37	12	110495088	110495088	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:110495088C>T	ENST00000309050.5	-	4	569	c.205G>A	c.(205-207)Gag>Aag	p.E69K	C12orf76_ENST00000548191.1_Intron|C12orf76_ENST00000548936.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	69										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AAGTTCCTCTCCCCCTTACAG	0.512000													4	35					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117014918	117014918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117014918G>A	ENST00000356083.3	+	26	3470	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1027	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGACCCAAGGGGTCGATGGT	0.592000													22	117					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105726198	105726198	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105726198A>G	ENST00000369110.3	-	15	2146	c.1954T>C	c.(1954-1956)Ttc>Ctc	p.F652L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	652					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGCAATGAACTTCAGGGAG	0.587000													7	37					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460040	66460040	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66460040G>A	ENST00000533211.1	-	26	5488	c.5157C>T	c.(5155-5157)tcC>tcT	p.S1719S	SPTBN2_ENST00000309996.2_Silent_p.S1719S|SPTBN2_ENST00000529997.1_Silent_p.S1719S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1719					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGCTCGTGGGAGGCCGCCA	0.662000													13	48					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148206	44148206	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:44148206C>T	ENST00000416848.2	-	2	1331	c.843G>A	c.(841-843)cgG>cgA	p.R281R	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.R281R|PUS7L_ENST00000551923.1_Silent_p.R281R|PUS7L_ENST00000553166.1_Silent_p.R281R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	281					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTGCTTTTTCCCGAAATCTTA	0.353000													71	142					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875587	33875587	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33875587C>T	ENST00000374408.3	-	4	1091	c.995G>A	c.(994-996)aGg>aAg	p.R332K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	332										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACATCAGGCCTGAAGGCTAG	0.652000													6	9					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227985823	227985823	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:227985823G>A	ENST00000396625.3	-	5	441	c.234C>T	c.(232-234)ccC>ccT	p.P78P	COL4A4_ENST00000329662.7_Silent_p.P78P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	78	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCTCCCAGGGGTCCAATTG	0.547000													6	32					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222308288	222308288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222308288G>A	ENST00000281821.2	-	10	1854	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	EPHA4_ENST00000409938.1_Missense_Mutation_p.P605S|EPHA4_ENST00000392071.4_Missense_Mutation_p.P554S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P605S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	605						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTTGGTTGGGATCTTCGTAC	0.398000													26	43					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183508723	183508723	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183508723C>T	ENST00000305135.5	+	21	3247	c.3052C>T	c.(3052-3054)Ctc>Ttc	p.L1018F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1018					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCACGTCCCTCGTGCCTAC	0.537000													26	90					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137507796	137507796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137507796G>A	ENST00000254900.5	-	3	515	c.144C>T	c.(142-144)ccC>ccT	p.P48P	BRD8_ENST00000230901.5_Silent_p.P48P|BRD8_ENST00000411594.2_Silent_p.P48P|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000402931.1_Silent_p.P48P	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	48					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTCTGCAAAGGGCTTGATTG	0.458000													43	83					0	0	1	0	0
GPX7	2882	broad.mit.edu	37	1	53074035	53074035	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074035G>A	ENST00000361314.4	+	3	540	c.502G>A	c.(502-504)Gtc>Atc	p.V168I		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	168					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	AGTGGAGGAGGTCAGACCCCA	0.577000													13	68					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561204	44561204	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44561204C>T	ENST00000332567.4	-	1	784	c.432G>A	c.(430-432)ccG>ccA	p.P144P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	144					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTGAGACCTCGGGTGAGGTC	0.647000													15	75					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57015992	57015992	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57015992C>T	ENST00000475243.1	+	5	764	c.426C>T	c.(424-426)tcC>tcT	p.S142S	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	142					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AAATTATATCCACAACTGCAT	0.348000													6	43					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36102140	36102140	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:36102140C>T	ENST00000377966.3	+	12	1914	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	450						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAACAAATTCCCTGAAGACCA	0.373000													13	76					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109910	20109910	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:20109910C>A	ENST00000541730.1	-	11	1428	c.833G>T	c.(832-834)tGg>tTg	p.W278L	MBOAT1_ENST00000324607.7_Missense_Mutation_p.W427L			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	427					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGTGACGGCCCAGGTGCCTGC	0.498000													26	98					1.64293e-13	1.69039e-13	1	1	0
WDR11	55717	broad.mit.edu	37	10	122660596	122660596	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660596G>T	ENST00000263461.6	+	21	2919	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	891						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGAACAGTTGAATTCATTGT	0.284000													21	54					5.45024e-15	5.62693e-15	1	1	0
ZNF420	147923	broad.mit.edu	37	19	37618342	37618342	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37618342G>A	ENST00000337995.3	+	5	664	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.R150Q	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTCAGACGAGCCTCACAC	0.398000													12	45					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130814	151130814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151130814G>A	ENST00000367328.1	+	11	1534	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V408I	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	408	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACGCCTCTGGGTTCTGCACCT	0.493000													9	40					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27176873	27176873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27176873C>T	ENST00000374142.3	+	4	823	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	243						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTTATTCTCTCCCTCTCATTC	0.582000													13	47					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53187989	53187989	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53187989G>A	ENST00000417996.2	-	2	846	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	KRT3_ENST00000309505.3_Silent_p.L258L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	258	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TAGCTCCGCAGGTAGTTGATG	0.532000													25	174					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79312675	79312675	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:79312675T>G	ENST00000305089.3	-	5	456	c.376A>C	c.(376-378)Act>Cct	p.T126P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	126	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGGGATCCAGTGTCCCAGGAC	0.557000													11	69					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563351	21563351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21563351G>A	ENST00000382592.4	-	4	973	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	LATS2_ENST00000542899.1_Missense_Mutation_p.P190S|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	190					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCCTCGTAGGGGGTACCGCTC	0.677000													8	64					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14554311	14554311	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14554311C>T	ENST00000242783.6	+	3	517	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PKN1_ENST00000342216.4_Missense_Mutation_p.P124S|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	118					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCGGGTGGCCCCACCTGCTC	0.662000													6	11					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675661	43675661	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43675661C>T	ENST00000528956.1	+	11	2149	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCAACCTCCCAATGTCTT	0.468000													19	66					0	0	1	0	0
PDPK1	5170	broad.mit.edu	37	16	2607890	2607890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2607890C>T	ENST00000342085.4	+	2	360	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	PDPK1_ENST00000354836.5_Missense_Mutation_p.P71S|PDPK1_ENST00000268673.7_Missense_Mutation_p.P71S|PDPK1_ENST00000441549.3_Missense_Mutation_p.P71S|PDPK1_ENST00000389224.3_Missense_Mutation_p.P44S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	71					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGCCCAGCCTCCGCCGCAGCC	0.657000													4	53					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447897	19447897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19447897G>A	ENST00000375267.2	-	68	9930	c.9927C>T	c.(9925-9927)ttC>ttT	p.F3309F	UBR4_ENST00000375217.2_Silent_p.F3302F|UBR4_ENST00000375226.2_Silent_p.F3285F|UBR4_ENST00000375254.3_Silent_p.F3309F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3309					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582000													5	35					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:84765138C>T	ENST00000257776.4	+	2	236	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373000													13	47					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													6	71					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649797	232649797	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649797T>G	ENST00000366630.1	-	2	1647	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N430T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	430					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGGATGAGTTGGCTCGAGA	0.517000													32	138					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65190132	65190132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65190132G>A	ENST00000358691.5	-	9	674	c.508C>T	c.(508-510)Cca>Tca	p.P170S	HELZ_ENST00000580662.1_Intron|HELZ_ENST00000580168.1_Missense_Mutation_p.P170S	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAGGTGGTGGGCGGAAATGC	0.368000													13	23					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:82267635C>T	ENST00000376520.4	+	7	1346	c.518C>T	c.(517-519)tCc>tTc	p.S173F	TLE4_ENST00000376537.4_Missense_Mutation_p.S173F|TLE4_ENST00000376544.3_Missense_Mutation_p.S173F|TLE4_ENST00000376552.2_Missense_Mutation_p.S173F|TLE4_ENST00000265284.6_Missense_Mutation_p.S148F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR			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						CTGGCCCTCTCCAGTGCTCTA	0.542000													67	120					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892485	37892485	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37892485G>A	ENST00000403299.1	-	14	2246	c.2030C>T	c.(2029-2031)tCc>tTc	p.S677F	CARD10_ENST00000406271.3_Missense_Mutation_p.S391F|CARD10_ENST00000251973.5_Missense_Mutation_p.S677F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	677					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGGGAGTGTGGACCCCTGATT	0.637000													11	38					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001818	145001818	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145001818C>T	ENST00000322810.4	-	27	4096	c.3927G>A	c.(3925-3927)gtG>gtA	p.V1309V	PLEC_ENST00000345136.3_Silent_p.V1172V|PLEC_ENST00000356346.3_Silent_p.V1158V|PLEC_ENST00000354958.2_Silent_p.V1150V|PLEC_ENST00000527096.1_Silent_p.V1195V|PLEC_ENST00000398774.2_Silent_p.V1140V|PLEC_ENST00000357649.2_Silent_p.V1176V|PLEC_ENST00000436759.2_Silent_p.V1199V|PLEC_ENST00000354589.3_Silent_p.V1172V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1309	Globular 1.			V -> L (in Ref. 2; AAB05427/AAB05428).	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCACCTCCACGTCCCGCT	0.731000													4	4					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301448	117301448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:117301448C>T	ENST00000321322.6	-	32	5857	c.5856G>A	c.(5854-5856)cgG>cgA	p.R1952R	DSCAML1_ENST00000527706.1_Silent_p.R1682R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1892					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTGTTGGCCCGGTGAGGGA	0.667000													14	98					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622173	65622173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:65622173C>T	ENST00000327987.4	-	12	2139	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	630										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGGCCTCCTCCTTCCGGCAG	0.612000													15	61					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57842906	57842906	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57842906G>A	ENST00000264230.4	-	1	2083	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	282							GTP binding										GCCCTTGGTGGCCAGGGGCCA	0.697000													5	38					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223319	44223319	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44223319G>A	ENST00000244314.5	+	2	808	c.609G>A	c.(607-609)cgG>cgA	p.R203R		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	203						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCGGCTGCGGGAGGCCGGCG	0.701000													8	52					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137056259	137056259	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137056259G>A	ENST00000309755.4	-	2	472	c.29C>T	c.(28-30)tCc>tTc	p.S10F	KLHL3_ENST00000394937.3_Missense_Mutation_p.S10F|KLHL3_ENST00000508657.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	10						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGAGTCTGGGAGCTCAGCTT	0.488000													12	51					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9882388	9882388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9882388G>A	ENST00000383820.5	-	5	510	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RPUSD3_ENST00000424438.1_Missense_Mutation_p.T138I|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.T155I	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	170					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TCACCAGTAGGTGGCTGTGGG	0.597000													8	35					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437494	16437494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:16437494C>T	ENST00000380672.4	-	6	755	c.698G>A	c.(697-699)tGg>tAg	p.W233*	BNC2_ENST00000545497.1_Nonsense_Mutation_p.W138*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.W166*|BNC2_ENST00000380666.2_Nonsense_Mutation_p.W233*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATGATGGCCCAGCGGTCCAG	0.443000													13	48					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467122	99467122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:99467122C>T	ENST00000268035.6	+	12	3114	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	IGF1R_ENST00000558762.1_Missense_Mutation_p.P835S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	835	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGATGACATTCCTGGGCCAGT	0.473000													47	25					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506435	142506435	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142506435C>T	ENST00000430863.1	-	0	327					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CTGTAGGCTTCCCCCATGAAC	0.637000													20	28					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228447459	228447459	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228447459T>A	ENST00000570156.2	+	17	5193	c.5119T>A	c.(5119-5121)Ttc>Atc	p.F1707I	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.F179I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	693	Ig-like 17.				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)				GCAGCTCTCCTTCCGCCTGCA	0.577000													14	71					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783744	169783744	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169783744G>A	ENST00000263817.6	-	26	3664	c.3540C>T	c.(3538-3540)acC>acT	p.T1180T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1180	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAATTTCTTTGGTGTTGTCTC	0.443000													58	104					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543601	48543601	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48543601C>T	ENST00000317697.3	-	4	584	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.E139K|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	139					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GCCCCGCTCTCTAGGAGAGCC	0.527000													14	80					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019871	56019871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56019871C>T	ENST00000303059.3	+	1	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCAATCTATCTCTTTACCTT	0.368000													21	78					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9645913	9645913	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9645913T>C	ENST00000535489.1	-	2	404	c.68A>G	c.(67-69)aAg>aGg	p.K23R	ZNF426_ENST00000589289.1_Missense_Mutation_p.K23R|ZNF426_ENST00000253115.2_Missense_Mutation_p.K23R|ZNF426_ENST00000593003.1_Intron			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGCTGGTGTCTTTTCTTCATG	0.443000													3	236					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564591	36564591	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:36564591G>A	ENST00000397799.1	-	4	915	c.691C>T	c.(691-693)Cct>Tct	p.P231S	COL8A2_ENST00000481785.1_Missense_Mutation_p.P166S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P231S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	231	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGACCAGGGAGGCCGGGG	0.716000													7	8					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508571	219508571	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219508571G>A	ENST00000411696.2	-	7	3447	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	ZNF142_ENST00000449707.1_Missense_Mutation_p.P890S			P52746	ZN142_HUMAN	zinc finger protein 142	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTAGAACAGGGCACTTCTTC	0.607000													21	124					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129324699	129324699	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129324699C>T	ENST00000393239.1	-	1	962	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLXND1_ENST00000324093.4_Missense_Mutation_p.D262N			Q9Y4D7	PLXD1_HUMAN	plexin D1	262	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGATGTTGTCGTCGGAGGGG	0.662000													3	18					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211004	59211004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59211004G>A	ENST00000302030.2	+	1	388	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGACTGCTATGGCATACGACC	0.532000													74	192					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25878064	25878064	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:25878064C>T	ENST00000376351.3	+	8	2241	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	628				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTATATTCCATACAATTAG	0.378000													11	40					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730397	96730397	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96730397C>T	ENST00000216629.6	+	3	984	c.378C>T	c.(376-378)ttC>ttT	p.F126F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F126F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	126					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCAGCATCTTCCTGGTGGTGG	0.622000													25	88					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876368	18876368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:18876368C>T	ENST00000447925.2	-	4	507	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E82K|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	82					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCGGTTTTCAGAATATGTG	0.343000													12	67					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008716	121008716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:121008716C>A	ENST00000392793.1	+	11	3799	c.3528C>A	c.(3526-3528)taC>taA	p.Y1176*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Y1176*			O75443	TECTA_HUMAN	tectorin alpha	1176	VWFD 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)		ACCGAGCTTACAAGCACACTG	0.577000													7	29					8.12818e-05	8.22234e-05	1	1	0
EML1	2009	broad.mit.edu	37	14	100402648	100402648	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100402648C>T	ENST00000262233.6	+	19	2211	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	EML1_ENST00000327921.9_Missense_Mutation_p.S679F|EML1_ENST00000334192.4_Missense_Mutation_p.S710F	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	691						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGTCAAATTCCGGAGACTAC	0.502000													26	39					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547000													9	42					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46326992	46326992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46326992C>T	ENST00000397850.2	-	5	618	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ITGB2_ENST00000397852.1_Missense_Mutation_p.D56N|ITGB2_ENST00000355153.4_Missense_Mutation_p.D56N|ITGB2_ENST00000397857.1_Missense_Mutation_p.D56N|ITGB2_ENST00000397854.3_Missense_Mutation_p.D56N|ITGB2_ENST00000302347.5_Missense_Mutation_p.D56N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	56					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGTCAGGATCCCCCGGCCCT	0.657000													20	43					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31979928	31979928	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31979928C>T	ENST00000432498.1	+	12	1616	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	SFI1_ENST00000443326.1_Missense_Mutation_p.P357L|SFI1_ENST00000443011.1_Missense_Mutation_p.P286L|SFI1_ENST00000540643.1_Missense_Mutation_p.P384L|SFI1_ENST00000414585.1_Missense_Mutation_p.P286L|SFI1_ENST00000400289.1_Missense_Mutation_p.P357L|SFI1_ENST00000400288.2_Missense_Mutation_p.P439L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	439					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GAGCTGCTCCCCTTACTGCAT	0.512000													63	113					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119052950	119052950	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119052950C>T	ENST00000409109.1	+	9	3089	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	NLRX1_ENST00000525863.1_Silent_p.N834N|NLRX1_ENST00000292199.2_Silent_p.N834N|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409265.4_Silent_p.N834N|NLRX1_ENST00000409991.1_Silent_p.N834N			Q86UT6	NLRX1_HUMAN	NLR family member X1	834	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGACCGCAACCGGCAGCTGC	0.682000													15	67					0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5833795	5833795	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:5833795C>T	ENST00000322002.3	+	1	997	c.942C>T	c.(940-942)agC>agT	p.S314S		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	314					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTACTACAGCTTCAAGAACA	0.736000													8	13					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73477822	73477822	+	Splice_Site	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:73477822A>T	ENST00000377110.2	-	3	706		c.e3+1		TRPM3_ENST00000396285.1_Splice_Site|TRPM3_ENST00000358082.3_Splice_Site|TRPM3_ENST00000377097.3_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site|TRPM3_ENST00000408909.2_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000396280.5_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000377111.2_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000396292.4_Splice_Site	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							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						CTTTCTGATTACCATGGCTTT	0.463000													19	154					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968919	99968919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968919C>T	ENST00000298999.3	+	5	1351	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P350S|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		GCACGAACCTCCTGATACAGC	0.398000													19	81					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154962042	154962042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154962042C>T	ENST00000368433.1	+	3	1467	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	FLAD1_ENST00000292180.3_Missense_Mutation_p.S375F|FLAD1_ENST00000315144.10_Missense_Mutation_p.S278F|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.S278F|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000295530.2_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	375					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGGTCTTCTTTGGGGAAA	0.547000													15	80					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177627	89177627	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:89177627G>T	ENST00000561129.2	+	1	673	c.543G>T	c.(541-543)caG>caT	p.Q181H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q181H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCCCTAGCCAGAAGCTCACCG	0.562000													5	42					5.18039e-06	5.25809e-06	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33659606	33659606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33659606G>A	ENST00000374316.5	+	55	8419	c.7359G>A	c.(7357-7359)cgG>cgA	p.R2453R	ITPR3_ENST00000605930.1_Silent_p.R2453R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2453					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						GCACAGAGCGGGCCTGTGACA	0.612000													31	112					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184035	55184035	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:55184035G>A	ENST00000337714.3	+	2	1443	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	AKAP1_ENST00000572557.1_Missense_Mutation_p.E404K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E404K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E404K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E404K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	404					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)					AGACACTGCGGAGCCTGCCAC	0.622000													11	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605333	179605333	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179605333A>T	ENST00000589042.1	-	48	12851	c.12627T>A	c.(12625-12627)ccT>ccA	p.P4209P	TTN_ENST00000591111.1_Silent_p.P3892P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P3846P|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.P3971P|TTN_ENST00000342175.6_Silent_p.P4038P|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3892							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)			AATTCCCTTCAGGTTCAGCTA	0.383000													17	92					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48318232	48318232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:48318232G>A	ENST00000376876.3	-	14	1942	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	SLC38A5_ENST00000376875.1_Missense_Mutation_p.P316S|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P367S			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	367					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCTTGCCTGGGAAAAGCAGC	0.577000													21	10					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654554	150654554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150654554G>A	ENST00000392968.2	-	3	1785	c.665C>T	c.(664-666)tCc>tTc	p.S222F	KCNH2_ENST00000430723.3_Missense_Mutation_p.S318F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S318F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	318					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTCCGAGGTGGAGTTGAGCAA	0.642000													7	33					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416808	110416808	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110416808G>A	ENST00000378402.5	+	15	1503	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	467					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E469K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGCTGCAGGAGTACAGATT	0.308000										HNSCC(38;0.096)			10	25					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330648	66330648	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330648G>A	ENST00000502692.1	+	0	2935				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCCCTCTATGGGGAGAGCGAC	0.622000													14	62					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907553	23907553	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23907553G>A	ENST00000382298.3	-	10	11050	c.10462C>T	c.(10462-10464)Ctc>Ttc	p.L3488F	SACS_ENST00000402364.1_Missense_Mutation_p.L2738F|SACS_ENST00000382292.3_Missense_Mutation_p.L3488F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3488					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)		TCATAAGAGAGATTTTCAATT	0.308000													6	31					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111261150	111261150	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:111261150G>T	ENST00000352690.4	+	1	295	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	CD96_ENST00000283285.5_Missense_Mutation_p.V19F|CD96_ENST00000438817.2_Missense_Mutation_p.V19F	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	19					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATACATTTTGTCAAGGGTAA	0.438000									Opitz Trigonocephaly syndrome				23	35					1.96895e-08	2.006e-08	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57398275	57398275	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:57398275C>T	ENST00000607273.1	+	10	1065	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	326					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATTGCAGTTCTGGAAGCAAG	0.378000													21	170					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138858007	138858007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858007G>A	ENST00000330794.4	-	6	940	c.607C>T	c.(607-609)Cca>Tca	p.P203S		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	203					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCCAATGGGAGGAGAATA	0.552000													22	136					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476800	120476800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120476800G>A	ENST00000355622.6	+	3	2495	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	TLR4_ENST00000394487.4_Silent_p.E758E|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGAGTGGGAGGACAGTGTCC	0.542000													38	75					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176536	57176536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57176536C>T	ENST00000537055.2	-	2	262	c.31G>A	c.(31-33)Ggc>Agc	p.G11S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AACTCTGCGCCCTGGAGGGCG	0.547000													27	36					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116434339	116434339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:116434339G>A	ENST00000281928.3	-	16	3144	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	980					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCAATTTTAGGAGGAATTGCC	0.458000													15	64					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146818	185146818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185146818C>T	ENST00000265026.3	+	2	783	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S150F|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	150					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443000													9	41					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559185	157559185	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:157559185C>T	ENST00000271532.1	-	3	251	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTCACTCTCTCTCCTTT	0.483000													8	35					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78338147	78338147	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78338147G>A	ENST00000255189.3	-	7	1180	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	DMGDH_ENST00000380311.4_Silent_p.P183P|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	384					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCCCCTGATGGGGCCCCACCA	0.418000													11	47					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482974	178482974	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:178482974A>C	ENST00000355689.4	-	1	720	c.456T>G	c.(454-456)aaT>aaG	p.N152K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	152					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATCGGTCTCATTGTCGCCTC	0.577000													30	115					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014449	133014449	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:133014449G>A	ENST00000367928.4	-	4	553	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	180	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.N180K(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATGAAAAGGTTTTGCTGCA	0.363000													8	32					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41826834	41826834	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:41826834G>A	ENST00000379480.4	-	5	744	c.644C>T	c.(643-645)tCg>tTg	p.S215L	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.S228L|MTRF1_ENST00000379477.1_Missense_Mutation_p.S215L	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	215					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTATAGCACGAATAATTCTG	0.333000													12	29					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755988	123755988	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123755988G>T	ENST00000375026.2	-	1	361	c.145C>A	c.(145-147)Cct>Act	p.P49T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	49						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCATCCAAGGACTGTGGTTC	0.463000													31	73					9.17885e-22	9.54558e-22	1	1	0
STRN4	29888	broad.mit.edu	37	19	47231181	47231181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47231181G>A	ENST00000391910.3	-	8	1573	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.P256S|STRN4_ENST00000263280.6_Missense_Mutation_p.P375S			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	375						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGTGTGCCAGGAGGCGGGCCA	0.662000													12	39					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163359	247163359	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247163359C>T	ENST00000339986.7	-	2	168	c.21G>A	c.(19-21)agG>agA	p.R7R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Silent_p.R7R	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	7	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGCCACATCCCTGAATGCCA	0.453000													9	55					0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698650	29698650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:29698650C>T	ENST00000304863.4	-	2	1052	c.630G>A	c.(628-630)tgG>tgA	p.W210*		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCAGGATAACCCATTCAGGTT	0.453000													45	146					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487254	56487254	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56487254C>T	ENST00000267101.3	+	12	1840	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.S408F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	467					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACCACCACTCTTTGAACTGG	0.522000													37	71					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896528	56896528	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896528C>T	ENST00000301310.4	-	5	416	c.258G>A	c.(256-258)aaG>aaA	p.K86K	ZNF582_ENST00000586929.1_Silent_p.K86K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAATAATTCCTTGGTATCAT	0.358000													18	65					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034999	94034999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94034999C>T	ENST00000297268.6	+	11	972	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	167					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCGTGGTTTCCCTGGAACTC	0.378000										HNSCC(75;0.22)			23	141					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142500263	142500263	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142500263G>A	ENST00000430863.1	-	0	731					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTCTGTGTGGGAAGACGCCCG	0.642000													6	29					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46918956	46918956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46918956C>T	ENST00000429979.1	-	14	2400	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G599E|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.E548K|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G442E|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G532E|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.E548K|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G464E|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G442E	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	599										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AAAGCCCTTTCCTTGACACAG	0.338000													3	20					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114284804	114284804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284804G>A	ENST00000393500.3	+	14	1649	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	FOXP2_ENST00000393491.3_Missense_Mutation_p.G260S|FOXP2_ENST00000393498.2_Missense_Mutation_p.G331S|FOXP2_ENST00000393489.3_Missense_Mutation_p.G260S|FOXP2_ENST00000360232.4_Missense_Mutation_p.G352S|FOXP2_ENST00000403559.4_Missense_Mutation_p.G369S|FOXP2_ENST00000378237.3_Missense_Mutation_p.G352S|FOXP2_ENST00000390668.3_Missense_Mutation_p.G376S|FOXP2_ENST00000408937.3_Missense_Mutation_p.G377S|FOXP2_ENST00000350908.4_Missense_Mutation_p.G352S|FOXP2_ENST00000393494.2_Missense_Mutation_p.G352S			O15409	FOXP2_HUMAN	forkhead box P2	352					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAATGGCCAGGCTGTGAAAG	0.458000													13	49					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21925103	21925103	+	Silent	SNP	C	C	T	rs140385917	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21925103C>T	ENST00000358242.3	+	4	652	c.159C>T	c.(157-159)atC>atT	p.I53I	DMTN_ENST00000415253.1_Silent_p.I53I|DMTN_ENST00000523266.1_Silent_p.I53I|DMTN_ENST00000523782.2_Silent_p.I28I|DMTN_ENST00000517600.1_Silent_p.I28I|DMTN_ENST00000265800.5_Silent_p.I53I|DMTN_ENST00000432128.1_Silent_p.I53I|DMTN_ENST00000443491.2_Silent_p.I28I|DMTN_ENST00000519907.1_Silent_p.I53I|DMTN_ENST00000381470.3_Silent_p.I53I					dematin actin binding protein																		ACAAGGCCATCCTGGACATCG	0.612000													13	58					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862733	8862733	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862733C>T	ENST00000396600.2	+	11	1657	c.719C>T	c.(718-720)tCc>tTc	p.S240F	ABAT_ENST00000567812.1_Missense_Mutation_p.S255F|ABAT_ENST00000268251.8_Missense_Mutation_p.S240F|ABAT_ENST00000569156.1_Missense_Mutation_p.S240F|ABAT_ENST00000425191.2_Missense_Mutation_p.S240F	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	240					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.S240F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GACATCCCTTCCTTTGACTGG	0.532000													117	221					0	0	1	0	0
FKBP1B	2281	broad.mit.edu	37	2	24283794	24283794	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24283794C>A	ENST00000380991.4	+	3	345	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	FKBP1B_ENST00000452109.1_Missense_Mutation_p.Q37K|FKBP1B_ENST00000380986.4_Missense_Mutation_p.Q66K			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	66	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGCAGCCCAGGTAGGATG	0.488000											OREG0014491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0.150653	0.151212	1	1	0
FLG2	388698	broad.mit.edu	37	1	152326846	152326846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152326846G>A	ENST00000388718.5	-	3	3488	c.3416C>T	c.(3415-3417)tCt>tTt	p.S1139F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1139	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)			TGCAAAGCCAGAGGATTTACC	0.537000													47	221					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658545	210658545	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:210658545C>T	ENST00000439458.1	+	7	980	c.900C>T	c.(898-900)tcC>tcT	p.S300S	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Silent_p.S300S	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	300						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAAGTCTGTCCTCCCAAACTT	0.468000													25	28					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31115636	31115636	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:31115636C>T	ENST00000597505.1	-	14	2078	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCACAGGATCGATGGCGCTA	0.512000													22	79					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27359212	27359212	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:27359212G>A	ENST00000262244.5	-	3	865	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	147							metal ion binding|protein binding										AGATCTGAAGGAAGTTCTTTG	0.458000													35	161					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684712	3684712	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3684712G>A	ENST00000344754.4	-	4	732	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L245F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	245	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGGGCTGAGGAGGATCTTC	0.577000													18	65					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452399	130452399	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130452399G>A	ENST00000356763.3	-	4	2000	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	481					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TACCAGCATAGGCTAGTCTAA	0.353000													8	46					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105139526	105139526	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105139526C>G	ENST00000369839.3	+	4	1298	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	TAF5_ENST00000351396.4_Missense_Mutation_p.N425K	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	425					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACCTCAGAACAGGTGAGGAA	0.353000													11	32					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038027	43038027	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43038027C>T	ENST00000267890.6	-	15	3809	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTTACTCTTCCCTTGGGGGGT	0.537000													85	97					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654239	46654239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:46654239C>T	ENST00000253255.5	-	1	4980	c.4981G>A	c.(4981-4983)Gat>Aat	p.D1661N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1661					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCATTCCATCCAACCTGATC	0.413000													17	48					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245575	94245575	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245575G>A	ENST00000393140.1	-	3	278	c.176C>T	c.(175-177)cCg>cTg	p.P59L	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P59L|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P59L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	59	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		cgggggcagcgggggaggggg	0.632000													3	10					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90272959	90272959	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90272959C>T	ENST00000469640.2	+	18	2215	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	DAPK1_ENST00000408954.3_Silent_p.L614L|DAPK1_ENST00000491893.1_Silent_p.L614L|DAPK1_ENST00000472284.1_Silent_p.L614L|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Silent_p.L614L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	614					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCGAACGCCTCTGCACCTTGC	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of				7	16					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24922733	24922733	+	Missense_Mutation	SNP	C	C	T	rs145800390	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:24922733C>T	ENST00000347898.3	+	16	2529	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	SLC5A11_ENST00000449109.2_Missense_Mutation_p.P480L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P601L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P601L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P480L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P566L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P566L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P572L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P572L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	636					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCTCCCGGCCAGAGCA	0.537000													87	156					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27307867	27307867	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307867G>A	ENST00000380320.4	+	6	3065	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	856	Collagen-like.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCTCAAGGTGAACAGGG	0.542000													36	103					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	38					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784317	30784317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30784317G>A	ENST00000246229.4	-	3	1693	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGAAGACAGGAGGCAAGGAG	0.582000													25	55					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551232	25551232	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551232C>T	ENST00000329474.6	+	27	2791	c.2423C>T	c.(2422-2424)aCc>aTc	p.T808I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATGCCAGCACCGAAAAGATT	0.393000													55	89					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998661	99998661	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99998661G>A	ENST00000398027.2	-	18	2170	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	ZCWPW1_ENST00000490721.1_Silent_p.F470F|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.F470F	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	641							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCACGGGGAAGTCCTCGC	0.597000													6	35					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239247	3239247	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:3239247G>A	ENST00000217939.6	-	5	4633	c.4479C>T	c.(4477-4479)tcC>tcT	p.S1493S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1493						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)				ATGGGGACGAGGATGCTGGCT	0.483000													24	40					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22296187	22296187	+	Missense_Mutation	SNP	A	A	C	rs137854528		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22296187A>C	ENST00000324559.8	+	20	2625	c.2308A>C	c.(2308-2310)Aca>Cca	p.T770P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	770						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			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						AACAAATGCCACACAGCCTAT	0.393000													17	74					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236455	140236455	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140236455G>A	ENST00000307360.5	+	1	822	c.822G>A	c.(820-822)aaG>aaA	p.K274K	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.K274K|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATAAACAAGGAAATGATGT	0.363000													17	32					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108031734	108031734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108031734C>T	ENST00000278612.8	-	17	4184	c.4079G>A	c.(4078-4080)aGa>aAa	p.R1360K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1360					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAGATGCTCTAAACTGTTG	0.403000													21	91					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429113	23429113	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429113C>T	ENST00000519973.1	+	4	960	c.762C>T	c.(760-762)ccC>ccT	p.P254P		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	254					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCACGACCCCCCTGGACGTCT	0.672000													3	25					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142409721	142409721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:142409721C>T	ENST00000258042.1	-	1	215	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	25					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AATCCCTTTCCCACCCCTCGG	0.612000													10	29					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606513	84606513	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84606513C>T	ENST00000344803.2	+	4	1175	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CATCTGATTTCATGGAGGAGC	0.468000													30	54					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97024782	97024782	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97024782G>A	ENST00000455200.1	+	10	1470		c.e10-1		NCAPH_ENST00000240423.4_Splice_Site|NCAPH_ENST00000427946.1_Splice_Site			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTGTGTTACAGGGAAGAAATG	0.398000													11	29					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29083922	29083922	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29083922G>A	ENST00000544772.1	-	16	2368	c.932C>T	c.(931-933)aCc>aTc	p.T311I	CHEK2_ENST00000402731.1_Missense_Mutation_p.T503I|CHEK2_ENST00000348295.3_Missense_Mutation_p.T503I|CHEK2_ENST00000403642.1_Missense_Mutation_p.T441I|CHEK2_ENST00000382578.1_Missense_Mutation_p.T441I|CHEK2_ENST00000405598.1_Missense_Mutation_p.T532I|CHEK2_ENST00000382580.2_Missense_Mutation_p.T575I|CHEK2_ENST00000382565.1_Missense_Mutation_p.T152I|CHEK2_ENST00000404276.1_Missense_Mutation_p.T532I|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.T532I	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	532	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GCGCTTTGTGGTCTCGGCACC	0.468000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					9	33					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420678	11420678	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420678C>T	ENST00000381842.3	-	0	542				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGTTTCCTCCTTGTGGGGGT	0.652000													39	263					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245593	202245593	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245593C>T	ENST00000367278.3	+	5	677	c.588C>T	c.(586-588)aaC>aaT	p.N196N	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.N144N|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	196						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGCCCTCAACCGCATCAGCC	0.637000													6	23					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114392934	114392934	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114392934C>G	ENST00000536271.1	-	4	1791	c.548G>C	c.(547-549)aGa>aCa	p.R183T	NXPE1_ENST00000251921.2_Missense_Mutation_p.R325T|NXPE1_ENST00000424269.1_Missense_Mutation_p.R467T					neurexophilin and PC-esterase domain family, member 1																		GGCTGGGCTTCTTAGGAACAG	0.418000													44	72					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915396	40915396	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915396C>T	ENST00000346991.5	+	11	3402	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	CASC5_ENST00000399668.2_Silent_p.S978S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1004	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTGAACTATCCCAAAGGAAAA	0.393000													5	56					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157826	53157826	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53157826G>A	ENST00000296292.3	-	3	241	c.180C>T	c.(178-180)ttC>ttT	p.F60F	RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	60					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGGCCAGGAAGAGGGTGG	0.498000													7	26					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47323382	47323382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47323382G>A	ENST00000398879.1	-	28	4376	c.4010C>T	c.(4009-4011)aCc>aTc	p.T1337I	TNS3_ENST00000311160.9_Missense_Mutation_p.T1337I|TNS3_ENST00000355730.3_Missense_Mutation_p.T1097I			Q68CZ2	TENS3_HUMAN	tensin 3	1337						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGGACCAGGGTGATGCTCAG	0.577000													12	71					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78553043	78553043	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:78553043C>T	ENST00000397909.2	+	23	5019	c.4846C>T	c.(4846-4848)Cta>Tta	p.L1616L	NAV3_ENST00000536525.2_Silent_p.L1616L|NAV3_ENST00000266692.7_Silent_p.L1439L|NAV3_ENST00000228327.6_Silent_p.L1616L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1616						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						ATTGCAAAGTCTAACTATGAC	0.393000										HNSCC(70;0.22)			6	51					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965611	6965611	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6965611C>T	ENST00000229268.8	+	5	633	c.581C>T	c.(580-582)cCc>cTc	p.P194L	USP5_ENST00000389231.5_Missense_Mutation_p.P194L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGAATCCCTCCCTGGTGAGGC	0.627000													11	66					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392406	3392406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3392406C>T	ENST00000324266.5	+	2	1207	c.1012C>T	c.(1012-1014)Ctc>Ttc	p.L338F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L338F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	338							binding										CAAGGAGAACCTCACCATGCC	0.682000													3	12					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381580	121381580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:121381580G>A	ENST00000297848.3	+	47	5437	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1723K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1628K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1723	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCTTCAGGGGAGAGTCGGCC	0.562000													10	88					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9492911	9492911	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9492911G>A	ENST00000396602.2	+	2	175	c.56G>A	c.(55-57)gGa>gAa	p.G19E	ZNF143_ENST00000299606.2_Missense_Mutation_p.G19E|ZNF143_ENST00000396597.3_Missense_Mutation_p.G19E|ZNF143_ENST00000396604.1_Missense_Mutation_p.G19E|ZNF143_ENST00000530463.1_Missense_Mutation_p.G19E	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	19					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTCCTGGAGGAGGGATGGAG	0.438000													17	64					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27599207	27599207	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27599207C>T	ENST00000233575.2	+	13	1432	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	SNX17_ENST00000537606.1_Silent_p.L379L|SNX17_ENST00000542478.1_Silent_p.L190L|SNX17_ENST00000543024.1_Silent_p.L190L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	404					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGGTACTCTGAGACGCTC	0.602000													42	99					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77669821	77669821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77669821G>A	ENST00000534064.1	-	7	802	c.768C>T	c.(766-768)atC>atT	p.I256I	INTS4_ENST00000529807.1_Silent_p.I256I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	256					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGACGACCCAGATAAGCTGGA	0.458000													7	56					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31046325	31046325	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31046325C>T	ENST00000394998.1	+	6	679	c.336C>T	c.(334-336)aaC>aaT	p.N112N	STX4_ENST00000313843.3_Silent_p.N114N|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	114					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CTGATGAGAACTATAACTCCG	0.408000													21	129					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047475	39047475	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39047475C>T	ENST00000373256.4	+	11	1222	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	393					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCACCTCCTTCCAGGTGACTT	0.547000													14	47					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94487499	94487499	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:94487499C>T	ENST00000370225.3	-	33	4762	c.4676G>A	c.(4675-4677)gGa>gAa	p.G1559E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1559					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)		AATGGAAATTCCTCCATACCT	0.512000													8	36					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000													7	39					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132603	8132603	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132603G>A	ENST00000396677.2	-	3	265	c.266C>T	c.(265-267)cCt>cTt	p.P89L	RIC3_ENST00000425599.2_Missense_Mutation_p.P170L|RIC3_ENST00000309737.6_Missense_Mutation_p.P251L|RIC3_ENST00000335425.7_Missense_Mutation_p.P69L|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Missense_Mutation_p.P250L|RIC3_ENST00000539720.1_Missense_Mutation_p.P202L			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	251	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTTGGGTCAGGGTAATCCAC	0.423000													36	61					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236708049	236708049	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:236708049C>T	ENST00000409538.1	+	8	2131	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	AGAP1_ENST00000428334.2_Silent_p.S119S|AGAP1_ENST00000304032.7_Silent_p.S280S|AGAP1_ENST00000336665.5_Silent_p.S280S|AGAP1_ENST00000409457.1_Silent_p.S280S			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	280	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTATTCCTCCTCCGTTCCAT	0.512000													17	61					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26411409	26411409	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:26411409G>A	ENST00000381655.2	+	29	3005	c.2863G>A	c.(2863-2865)Ggc>Agc	p.G955S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G890S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	915					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAATGGCGAAGGCTTCAACAC	0.493000													19	69					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9917511	9917511	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9917511A>T	ENST00000256190.8	-	17	2045	c.1908T>A	c.(1906-1908)ccT>ccA	p.P636P	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	636					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTGGTCAAAGGGAGTAATG	0.323000													40	152					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433649	67433649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:67433649C>T	ENST00000349015.3	-	6	701	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G88E	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	88					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CTCCTGGGGTCCGCCCAGCAC	0.642000													16	100					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117609777C>T	ENST00000368508.3	-	43	7120	c.6922G>A	c.(6922-6924)Gaa>Aaa	p.E2308K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2302K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2308					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2308Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	60					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83226687	83226687	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226687G>A	ENST00000563800.1	-	4	2235	c.510C>T	c.(508-510)ccC>ccT	p.P170P	CPEB1_ENST00000568128.1_Silent_p.P143P|CPEB1_ENST00000398591.2_Silent_p.P68P|CPEB1_ENST00000562019.1_Silent_p.P143P|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Silent_p.P146P|CPEB1_ENST00000568757.1_Silent_p.P68P|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Silent_p.P68P|CPEB1_ENST00000450751.2_Silent_p.P68P|CPEB1_ENST00000423133.2_Silent_p.P68P			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	143					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGCTCAAGGGGGGTTTTC	0.532000													48	33					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537726	58537726	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58537726G>A	ENST00000394282.4	+	4	609	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	NDRG4_ENST00000563799.1_Missense_Mutation_p.G16S|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000566192.1_Missense_Mutation_p.G16S|NDRG4_ENST00000568640.1_Missense_Mutation_p.G34S|NDRG4_ENST00000356752.4_Missense_Mutation_p.G46S|NDRG4_ENST00000258187.5_Missense_Mutation_p.G48S|NDRG4_ENST00000570248.1_Missense_Mutation_p.G16S|NDRG4_ENST00000562999.1_Missense_Mutation_p.G16S|NDRG4_ENST00000394279.2_Missense_Mutation_p.G48S|NDRG4_ENST00000569923.1_5'UTR	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	16					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GACACCCTACGGCCTTCTGCA	0.622000													8	51					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95653671	95653671	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95653671A>G	ENST00000433389.2	+	1	315	c.125A>G	c.(124-126)aAc>aGc	p.N42S	ESRP1_ENST00000423620.2_Missense_Mutation_p.N42S|ESRP1_ENST00000358397.5_Missense_Mutation_p.N42S|ESRP1_ENST00000454170.2_Missense_Mutation_p.N42S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	42					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GATCTGGCCAACAAGAAGGTA	0.522000													35	81					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306731	46306731	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:46306731G>A	ENST00000357422.2	+	4	625	c.82G>A	c.(82-84)Gat>Aat	p.D28N	CCR3_ENST00000395942.2_Missense_Mutation_p.D28N|CCR3_ENST00000545097.1_Missense_Mutation_p.D49N|CCR3_ENST00000541018.1_Missense_Mutation_p.D28N|CCR3_ENST00000395940.2_Missense_Mutation_p.D28N			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	28					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGAAAAAGCTGATACCAGAGC	0.502000													6	21					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105807537	105807537	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807537G>A	ENST00000353479.5	-	31	2585	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	COL17A1_ENST00000369733.3_Silent_p.I765I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	765	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGGGCCACGGATTCCAGGCA	0.507000													26	25					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73401257	73401257	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:73401257G>A	ENST00000326291.6	+	7	1253		c.e7+1			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCAAAAGAGGTAAGCTTATA	0.313000													12	31					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241562	126241562	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126241562A>G	ENST00000394329.3	+	1	4009	c.3996A>G	c.(3994-3996)gaA>gaG	p.E1332E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1332	Cadherin 13.				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						GAATTGGTGAACTCGTGTCCT	0.348000													14	98					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726014	39726014	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39726014A>G	ENST00000395670.3	-	21	3471		c.e21+1		KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAATTACAAACCTTTGCTTC	0.308000													41	77					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33922871	33922871	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33922871A>T	ENST00000379238.1	-	28	3195	c.3078T>A	c.(3076-3078)ttT>ttA	p.F1026L	UBAP2_ENST00000360802.1_Missense_Mutation_p.F1026L|UBAP2_ENST00000379235.1_Missense_Mutation_p.F265L|UBAP2_ENST00000539807.1_Missense_Mutation_p.F781L|UBAP2_ENST00000449054.1_Missense_Mutation_p.F1026L|UBAP2_ENST00000379239.4_Missense_Mutation_p.F759L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1026										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTGCTTGTCAAAAGTCTACA	0.572000													55	28					0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59492285	59492285	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:59492285G>T	ENST00000523483.1	+	8	2256	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	SDCBP_ENST00000422546.2_Missense_Mutation_p.A227S|SDCBP_ENST00000260130.4_Missense_Mutation_p.A228S|SDCBP_ENST00000447267.2_Missense_Mutation_p.A174S|SDCBP_ENST00000447182.2_Missense_Mutation_p.A227S|SDCBP_ENST00000424270.2_Missense_Mutation_p.A222S|SDCBP_ENST00000413219.2_Missense_Mutation_p.A228S|SDCBP_ENST00000520168.1_Missense_Mutation_p.A169S			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	228	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TAGCTCTGCAGCCAGAAATGG	0.393000													49	76					8.00217e-19	8.29957e-19	1	1	0
IL12RB1	3594	broad.mit.edu	37	19	18182998	18182998	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18182998G>A	ENST00000600835.1	-	10	1248	c.945C>T	c.(943-945)aaC>aaT	p.N315N	IL12RB1_ENST00000593993.1_Silent_p.N315N|IL12RB1_ENST00000322153.6_Silent_p.N315N|IL12RB1_ENST00000430026.2_Silent_p.N315N			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	315	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGACAGCCACGTTGTAGGCAG	0.617000													12	21					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016247	132016247	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132016247A>T	ENST00000374786.1	+	2	718	c.239A>T	c.(238-240)gAc>gTc	p.D80V	NTM_ENST00000374784.1_Missense_Mutation_p.D80V|NTM_ENST00000425719.2_Missense_Mutation_p.D80V|NTM_ENST00000539799.1_Missense_Mutation_p.D80V|NTM_ENST00000427481.2_Missense_Mutation_p.D71V|NTM_ENST00000374791.3_Missense_Mutation_p.D80V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	80	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCTGGGAATGACAAGTGGTGC	0.562000													7	76					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633671	69633671	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69633671C>T	ENST00000337103.4	+	9	2662	c.1071_splice	c.e9+1	p.P357_splice	C8orf34_ENST00000539993.1_Splice_Site_p.P382_splice|C8orf34_ENST00000518698.1_Splice_Site_p.P468_splice|C8orf34_ENST00000325233.3_Splice_Site_p.P126_splice			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	382					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTAACAGGACCTGTAAGTATA	0.284000													5	35					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157082173	157082173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157082173C>T	ENST00000362010.2	-	8	1563	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	VEPH1_ENST00000392833.2_Missense_Mutation_p.G419E|VEPH1_ENST00000543418.1_Missense_Mutation_p.G419E|VEPH1_ENST00000392832.2_Missense_Mutation_p.G419E|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	419						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTATTGCTCCCTGCATTTAT	0.373000													14	87					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56468429	56468429	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56468429G>A	ENST00000370754.5	-	40	10774	c.10775C>T	c.(10774-10776)cCc>cTc	p.P3592L	DST_ENST00000370769.4_Missense_Mutation_p.P3414L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.P3414L|DST_ENST00000446842.2_Missense_Mutation_p.P3088L|DST_ENST00000312431.6_Missense_Mutation_p.P3414L|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	3414					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTGTCTAAGGGGGGTTTCAT	0.383000													81	128					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1584903	1584903	+	Silent	SNP	G	G	A	rs145114613		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584903G>A	ENST00000572621.1	-	5	1000	c.735C>T	c.(733-735)ctC>ctT	p.L245L	PRPF8_ENST00000304992.6_Silent_p.L245L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	245						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCTGTCAGGAGCTGATTAG	0.473000													42	149					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680999	100680999	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100680999G>A	ENST00000306151.4	+	3	6366	c.6302G>A	c.(6301-6303)aGt>aAt	p.S2101N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2101	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGGAAGTCCTCTACTA	0.507000													50	292					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891677	54891677	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:54891677C>T	ENST00000356805.4	+	33	6789	c.6508C>T	c.(6508-6510)Ccg>Tcg	p.P2170S		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2170					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATCCCCTCCCCGACCTCTGA	0.592000													41	117					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21799757	21799757	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21799757C>T	ENST00000443632.2	+	2	945	c.573C>T	c.(571-573)ctC>ctT	p.L191L	HIC2_ENST00000407598.2_Silent_p.L191L|HIC2_ENST00000407464.2_Silent_p.L191L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	191					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCCAGGAGCTCCCCCAAGCCA	0.677000													5	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105505	168105505	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168105505C>T	ENST00000409195.1	+	9	7692	c.7603C>T	c.(7603-7605)Cct>Tct	p.P2535S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2313S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2535S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2360					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						AAATCCAAAACCTTATATGAG	0.338000													47	83					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10354694G>A	ENST00000255381.2	-	28	3924	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1272					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTATTAAGCGTTGTTGCTCT	0.433000													18	70					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140078134	140078134	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140078134G>A	ENST00000323927.2	-	5	1162	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	386					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTGGATGCAGGAGCCGAGTCT	0.657000													3	19					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915564	39915564	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915564C>T	ENST00000425673.1	+	17	4029	c.3704C>T	c.(3703-3705)cCt>cTt	p.P1235L	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1264L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1264					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	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;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGTCCCCCACCTTCCAGCCGT	0.607000													17	89					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699529	117699529	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117699529T>A	ENST00000369458.3	-	3	190	c.112A>T	c.(112-114)Aca>Tca	p.T38S	VTCN1_ENST00000359008.4_Missense_Mutation_p.T41S|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	38	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTAGTGACTGTGATGGAGTGT	0.473000													15	38					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316339	45316339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316339G>A	ENST00000313237.5	-	3	302	c.152C>T	c.(151-153)aCg>aTg	p.T51M	PHF21B_ENST00000404079.2_Missense_Mutation_p.T39M|PHF21B_ENST00000396103.3_Missense_Mutation_p.T51M|PHF21B_ENST00000447824.3_Missense_Mutation_p.T39M|PHF21B_ENST00000403565.1_De_novo_Start_InFrame	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	51							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGAGGACCCGTGACAGGCAC	0.632000													4	11					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931851	57931851	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57931851G>A	ENST00000307658.7	+	4	1260	c.997G>A	c.(997-999)Gga>Aga	p.G333R	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.G331R			P17021	ZNF17_HUMAN	zinc finger protein 17	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACGGCCTTATGGATGCAATGA	0.443000													31	74					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292994	219292994	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219292994C>T	ENST00000248444.5	+	6	589	c.501C>T	c.(499-501)ctC>ctT	p.L167L	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.L167L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	167	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTTTCCTCCTGGACCTTG	0.552000													11	56					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083464	171083464	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171083464T>C	ENST00000367755.4	+	7	1256	c.1145T>C	c.(1144-1146)gTt>gCt	p.V382A	FMO3_ENST00000542847.1_Missense_Mutation_p.V362A|FMO3_ENST00000392085.2_Missense_Mutation_p.V382A|FMO3_ENST00000538429.1_Missense_Mutation_p.V319A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	382					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCCCACAGTTGACCTCCAG	0.453000													20	23					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52609099	52609099	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:52609099C>T	ENST00000371440.3	-	7	1351	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Silent_p.L51L			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGGCTATCCAGGTGCTTTT	0.463000													9	74					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863845	176863845	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176863845C>T	ENST00000367654.2	-	17	2830	c.2817G>A	c.(2815-2817)atG>atA	p.M939I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M931I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M931I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M931I			O14525	ASTN1_HUMAN	astrotactin 1	939					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTGGCACTCCATGCGGACTC	0.612000													13	76					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100126386	100126386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100126386G>A	ENST00000375202.2	+	43	5440	c.4088G>A	c.(4087-4089)gGg>gAg	p.G1363E	CCDC180_ENST00000529487.1_Missense_Mutation_p.G1363E|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.G1308E|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		CGGGTGCTTGGGGACAAGCCT	0.562000													5	34					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962535	69962535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69962535C>T	ENST00000305231.7	+	1	343	c.297C>T	c.(295-297)gaC>gaT	p.D99D	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.D99D	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	99					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGGTCAGACCTTCCAAAAG	0.323000													21	59					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794462	42794462	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42794462C>T	ENST00000572681.2	+	11	4337	c.4269C>T	c.(4267-4269)ccC>ccT	p.P1423P	CIC_ENST00000160740.3_Silent_p.P514P|CIC_ENST00000575354.2_Silent_p.P514P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTGAGCCCCCAGGGCCCC	0.627000			"""Mis, F, S"""		oligodendroglioma								20	65					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1322774	1322774	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322774G>A	ENST00000400809.3	-	11	1405	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	CCNL2_ENST00000408952.5_Missense_Mutation_p.S245F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	467					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCGAGAACGGGAAGAACTCCG	0.572000													27	83					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754452	110754452	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110754452C>T	ENST00000369787.3	+	1	358	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KCNC4_ENST00000413138.3_Missense_Mutation_p.R111C|KCNC4_ENST00000438661.2_Missense_Mutation_p.R111C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	111					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACTACTACCGCACCGGCAA	0.682000													13	31					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819158	43819158	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43819158G>A	ENST00000382031.1	+	5	6232	c.6201G>A	c.(6199-6201)atG>atA	p.M2067I	MAP1A_ENST00000300231.5_Missense_Mutation_p.M1829I|MAP1A_ENST00000399453.1_Missense_Mutation_p.M1829I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1829						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACACATGAAGAATGAAC	0.602000													29	105					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744040	76744040	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744040G>A	ENST00000369963.3	-	3	444	c.255C>T	c.(253-255)ttC>ttT	p.F85F	IMPG1_ENST00000369950.3_Silent_p.F163F			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	163					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)				GCCTGTCAGGGAAACTTCTCT	0.338000													12	31					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902186	26902186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26902186G>A	ENST00000226253.4	-	3	754	c.279C>T	c.(277-279)ccC>ccT	p.P93P	ALDOC_ENST00000395319.3_Silent_p.P93P|ALDOC_ENST00000395321.2_Silent_p.P93P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	93					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TTCGGACGAAGGGAACACCAT	0.517000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998163	30998163	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30998163C>T	ENST00000297679.5	+	6	627	c.534C>T	c.(532-534)gtC>gtT	p.V178V	HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	178					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCACCAGGTCCGTGGGGGGC	0.677000													9	59					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56184849	56184849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184849G>A	ENST00000312253.1	-	1	859	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATAGATTAGGGGGTTTAACAT	0.363000													18	99					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524552	37524552	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524552C>T	ENST00000216223.5	-	10	1438	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	414					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCGTCGTCCTCCCCTGACAGA	0.657000													20	24					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52878665	52878665	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52878665T>A	ENST00000356971.3	-	10	1436	c.947A>T	c.(946-948)tAt>tTt	p.Y316F	ICK_ENST00000350082.5_Missense_Mutation_p.Y316F	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	316					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGGCTTAATATAAGGAGGTGG	0.532000													13	35					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874565	4874565	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874565G>A	ENST00000399583.3	-	4	1276	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RADIL_ENST00000538469.1_Silent_p.P123P|RADIL_ENST00000536091.1_Silent_p.P363P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	363	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGCGGGCAGGGGCTGGGCCT	0.756000													4	17					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194390864	194390864	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:194390864A>G	ENST00000265245.5	-	2	414	c.99_splice	c.e2-1	p.L34_splice	LSG1_ENST00000480853.1_5'UTR	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	34					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTGTGTGCAACTATGAAAAA	0.433000													22	64					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4272892	4272892	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4272892G>A	ENST00000404826.2	+	41	5972	c.5833G>A	c.(5833-5835)Ggc>Agc	p.G1945S	SDK1_ENST00000389531.3_Missense_Mutation_p.G1925S|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1945	Fibronectin type-III 13.				cell adhesion	integral to membrane		p.G1945C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGATGAAGGCTTATGGGA	0.592000													41	59					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11354483	11354483	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11354483C>T	ENST00000315872.6	-	17	2491	c.2043_splice	c.e17+1	p.K681_splice	ROCK2_ENST00000401753.1_Splice_Site_p.K438_splice	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	681	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATGTTTTACCTTTTCCAAAT	0.328000													20	47					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150892006	150892006	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:150892006G>A	ENST00000261800.5	-	20	11637	c.11625C>T	c.(11623-11625)tcC>tcT	p.S3875S	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3875	Laminin G-like.				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)			GGACCACAAGGGAGGTGTTGC	0.592000													40	66					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322795	79322795	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79322795T>A	ENST00000428286.1	-	8	4518	c.3318A>T	c.(3316-3318)aaA>aaT	p.K1106N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.K1465N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1465					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCAGTTTTCTCAAGAT	0.433000													20	88					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43275168	43275168	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:43275168G>A	ENST00000263246.3	-	8	1115	c.914C>T	c.(913-915)tCc>tTc	p.S305F	PACSIN2_ENST00000402229.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Missense_Mutation_p.S305F|PACSIN2_ENST00000407585.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000337959.4_Missense_Mutation_p.S305F	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	305					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CAGGTCTGCGGACCACTCCTA	0.597000													13	34					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67690200	67690200	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67690200C>T	ENST00000334583.6	+	34	4140	c.3812C>T	c.(3811-3813)gCt>gTt	p.A1271V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A1235V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1271										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)		TCTGTGTCTGCTGGTGAGTGA	0.587000													23	96					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41077795	41077795	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41077795C>T	ENST00000324545.7	+	37	7013	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	USP9X_ENST00000378308.2_Missense_Mutation_p.S2127F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2127					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCACATTTTTCCTTGCAAGAT	0.413000													26	78					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770131	91770131	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770131G>A	ENST00000389857.6	-	20	3635	c.3549C>T	c.(3547-3549)gcC>gcT	p.A1183A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1183					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCC	0.642000													13	16					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39567635	39567635	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39567635C>T	ENST00000432258.1	+	0	2093				AC003958.2_ENST00000430006.1_RNA																							AGAAGTAGGACTGGTAGTTTC	0.572000													4	19					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88047294	88047294	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88047294C>T	ENST00000307808.6	+	13	3016	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S	AFF1_ENST00000544085.1_Missense_Mutation_p.P504S|AFF1_ENST00000395146.4_Missense_Mutation_p.P873S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	866	Poly-Pro.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAATGCTCCCCCCGCCACC	0.577000													15	60					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32805375	32805375	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32805375G>A	ENST00000380250.3	+	41	5961	c.5465G>A	c.(5464-5466)aGt>aAt	p.S1822N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTCAAAGAGTGCTGAACAG	0.353000													18	51					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420171	56420171	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420171C>T	ENST00000407595.2	+	2	1338	c.836C>T	c.(835-837)cCg>cTg	p.P279L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGACCTAGCCCGGAGCACCAC	0.642000													29	74					0	0	1	0	0
NBR2	10230	broad.mit.edu	37	17	41290680	41290680	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41290680G>A	ENST00000460115.1	+	0	231					NR_003108.1																						gcaggtgctggaagcccagga	0.517000													3	9					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982748	36982748	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36982748C>T	ENST00000274963.8	+	8	1134	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1.				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|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACACCCTGCTCCGTGAGGGCC	0.632000													6	32					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64897364	64897364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64897364G>A	ENST00000526060.1	-	14	1621	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	SYVN1_ENST00000307289.6_Missense_Mutation_p.P426S|SYVN1_ENST00000377190.3_Missense_Mutation_p.P478S|SYVN1_ENST00000294256.8_Missense_Mutation_p.P477S			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	478	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAGCCCGCAGGGGGCACAGGC	0.657000													5	22					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430376	49430376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:49430376G>A	ENST00000299191.3	+	4	554	c.437G>A	c.(436-438)cGg>cAg	p.R146Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	146										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCACTCAGCGGCCAAACCCA	0.507000													39	69					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328351	31328351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31328351G>A	ENST00000215862.4	-	25	4013	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	MORC2_ENST00000397641.2_Missense_Mutation_p.P946S|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	946							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACCAGAGGAAAAGATATT	0.463000													22	70					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46596324	46596324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46596324C>T	ENST00000539173.1	+	4	1143	c.708C>T	c.(706-708)ccC>ccT	p.P236P	ADARB1_ENST00000348831.4_Silent_p.P236P|ADARB1_ENST00000389863.4_Silent_p.P236P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Silent_p.P236P	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	236	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGAAGAATCCCGTGATGATCT	0.607000													21	44					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1987221	1987221	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1987221C>T	ENST00000255608.4	-	7	1229	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	405						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		AGCCCAAATCCCACCACGAAG	0.612000													6	36					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003885	122003885	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003885G>A	ENST00000498619.1	+	7	3552	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	CASR_ENST00000296154.5_Silent_p.Q1028Q|CASR_ENST00000490131.1_Silent_p.Q1028Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1028					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGACCGTCCAGGAAACAGGTC	0.587000													9	59					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86873069	86873069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86873069C>T	ENST00000373119.4	+	4	1007	c.862C>T	c.(862-864)Cga>Tga	p.R288*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.R288*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTTAGGGATTCGATCATTTGG	0.418000													10	42					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675976	29675976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29675976C>T	ENST00000360121.3	+	2	1019	c.927C>T	c.(925-927)gtC>gtT	p.V309V	SPN_ENST00000395389.2_Silent_p.V309V|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	309					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGCCCAGGTCCCTGAGGAGG	0.731000													3	10					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861776	111861776	+	Missense_Mutation	SNP	G	G	A	rs139812869	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111861776G>A	ENST00000369740.1	+	10	1053	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CHIA_ENST00000430615.1_Missense_Mutation_p.G209E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.G156E|CHIA_ENST00000353665.6_Missense_Mutation_p.G156E|CHIA_ENST00000451398.2_Missense_Mutation_p.G156E|CHIA_ENST00000343320.6_Missense_Mutation_p.G317E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	317					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCACTCAGGGATGGGATGCC	0.408000													10	42					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4461817	4461817	+	Missense_Mutation	SNP	G	G	A	rs113185435		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4461817G>A	ENST00000272902.5	-	4	568	c.533C>T	c.(532-534)cCc>cTc	p.P178L	SUMF1_ENST00000383843.5_Missense_Mutation_p.P153L|SUMF1_ENST00000534863.1_Missense_Mutation_p.P178L|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.P178L	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	178						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TAACCACCAGGGAGCAGCTGC	0.483000													9	30					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69558501	69558501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:69558501G>A	ENST00000341516.5	-	6	916	c.769C>T	c.(769-771)Cct>Tct	p.P257S	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.P175S|DCAF5_ENST00000557386.1_Missense_Mutation_p.P256S|DCAF5_ENST00000554215.1_Missense_Mutation_p.P175S|DCAF5_ENST00000389997.6_Missense_Mutation_p.P257S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	257						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						TAGAGCACAGGGGGCAGGCGT	0.542000													20	126					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44466927	44466927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44466927C>T	ENST00000251269.5	+	3	377	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ZNF221_ENST00000587682.1_Missense_Mutation_p.P17S|ZNF221_ENST00000592350.1_Missense_Mutation_p.P17S	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403000													22	53					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90380682	90380682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90380682G>A	ENST00000369393.3	-	83	14027	c.13912C>T	c.(13912-13914)Ctg>Ttg	p.L4638L	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Silent_p.L4638L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4638					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)		ACAGAGAGCAGCTTTGCAGTA	0.532000													21	73					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30862381	30862381	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30862381C>T	ENST00000361741.4	+	6	752	c.557C>T	c.(556-558)cCc>cTc	p.P186L	DDR1_ENST00000376570.4_Silent_p.P482P|DDR1_ENST00000508312.1_Silent_p.P500P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Silent_p.P482P|DDR1_ENST00000513240.1_Silent_p.P482P|DDR1_ENST00000452441.1_Silent_p.P482P|DDR1_ENST00000376575.3_Silent_p.P482P|DDR1_ENST00000376568.3_Silent_p.P482P|DDR1_ENST00000376569.3_Silent_p.P482P|DDR1_ENST00000454612.2_Silent_p.P482P|DDR1_ENST00000418800.2_Silent_p.P482P|DDR1_ENST00000324771.8_Silent_p.P482P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	459					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGAGCCACCCCCGTACCAGG	0.622000													31	58					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751119	40751119	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40751119C>T	ENST00000561234.1	+	2	715	c.456C>T	c.(454-456)caC>caT	p.H152H	BAHD1_ENST00000416165.1_Silent_p.H152H|BAHD1_ENST00000560846.1_Silent_p.H152H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	152					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGATCCCCACCGCAGCCGTG	0.662000													23	32					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154400	74154400	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154400A>C	ENST00000443185.2	-	3	928	c.611T>G	c.(610-612)cTg>cGg	p.L204R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTAGCTGCACAGCCTGCACTT	0.662000													6	23					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16093894	16093894	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:16093894C>T	ENST00000375766.3	+	4	914	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Silent_p.L92L|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Silent_p.L92L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	92	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCCTCCTGTCCTGGATGGTGA	0.627000													3	27					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248418	42248418	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248418G>A	ENST00000293414.1	+	1	345	c.261G>A	c.(259-261)gtG>gtA	p.V87V		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	87					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACATGATTGTGGAGACTGTGA	0.607000													4	45					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541182	111541182	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:111541182C>T	ENST00000261486.5	-	14	1474	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000505825.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	400						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGGCTATTTTCATTCTTTGCT	0.308000													98	346					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124497004C>T	ENST00000539644.1	+	6	2143	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	ZNF664_ENST00000392404.3_Missense_Mutation_p.H105Y|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000337815.4_Missense_Mutation_p.H105Y|ZNF664_ENST00000538932.2_Missense_Mutation_p.H105Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408000													39	57					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259474	29259474	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:29259474C>T	ENST00000379558.4	+	18	2837	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	FAM179A_ENST00000403861.2_Missense_Mutation_p.S774F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	829							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCGCTGGAGTCCTTCGCCAAG	0.512000													13	57					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847705	28847705	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28847705C>T	ENST00000395547.2	+	23	3365	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Intron|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000336783.4_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA	NM_148414.2	NP_680780.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	0						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGGCTCTGTCCTTTGCTTCC	0.652000													9	58					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133346897	133346897	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133346897C>T	ENST00000372394.1	+	9	1073	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	ASS1_ENST00000352480.5_Missense_Mutation_p.P198S|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.P198S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	198					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGGAGAACCCCAAGGTAAT	0.562000													19	35					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19553958	19553958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19553958C>T	ENST00000396212.2	+	8	2679	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	CCP110_ENST00000396208.2_Missense_Mutation_p.A748V|CCP110_ENST00000381396.5_Missense_Mutation_p.A748V	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	748					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ACAAATTCTGCCATGCAATAT	0.373000													5	42					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545878	82545878	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82545878C>T	ENST00000423517.2	-	7	11761	c.11424G>A	c.(11422-11424)agG>agA	p.R3808R	PCLO_ENST00000437081.1_Silent_p.R528R|PCLO_ENST00000333891.8_Silent_p.R3808R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3739	Gln-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						GGGCCTCTTTCCTCCTGTTAA	0.448000													12	74					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451277	34451277	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34451277G>A	ENST00000374012.3	+	6	892	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	PHF20_ENST00000439301.1_Intron|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACTTGAGGGAACCCAAAAG	0.448000													31	180					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784209	9784209	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:9784209G>A	ENST00000304374.2	+	1	952	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	186					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACCAGGCGGCCTCTTGGGG	0.617000													13	40					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438266	23438266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:23438266G>A	ENST00000248996.4	+	2	1050	c.384G>A	c.(382-384)atG>atA	p.M128I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	128						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGGTGTCATGCGACGGCTCT	0.672000													12	48					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29927884	29927884	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29927884G>A	ENST00000490103.1	-	8	905	c.783C>T	c.(781-783)gcC>gcT	p.A261A	THOC5_ENST00000397871.1_Silent_p.A261A|THOC5_ENST00000397873.2_Silent_p.A261A|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Silent_p.A261A	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	261					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGGTGTCTGGCTGTCTCAT	0.557000													13	29					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655679	3655679	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3655679G>A	ENST00000356518.2	-	4	569	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	ADAM33_ENST00000379861.4_Missense_Mutation_p.H110Y|ADAM33_ENST00000350009.2_Missense_Mutation_p.H110Y	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	110					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCACCGTGTGGTTGGGGGCC	0.617000													17	101					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793177	109793177	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:109793177G>A	ENST00000271332.3	+	1	537	c.476G>A	c.(475-477)gGg>gAg	p.G159E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	159					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCAGGGCAGGGGAAAGGTCA	0.642000													7	27					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515092	56515092	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56515092C>T	ENST00000390649.3	+	2	73	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	25						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTGTCACTCTTTCCACAGG	0.408000													38	103					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606368	101606368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101606368C>T	ENST00000284395.5	+	33	6117	c.5717C>T	c.(5716-5718)gCc>gTc	p.A1906V	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1909V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1909					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGCAGGCCGTGAAGATC	0.637000													14	68					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381476	81381476	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381476C>T	ENST00000222390.5	-	5	811	c.585G>A	c.(583-585)gaG>gaA	p.E195E	HGF_ENST00000457544.2_Silent_p.E190E|HGF_ENST00000453411.1_Silent_p.E190E|HGF_ENST00000423064.2_Silent_p.E195E|HGF_ENST00000444829.2_Silent_p.E195E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	195	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGTAGCGTACCTCTGGATTGC	0.473000													33	69					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12902926	12902926	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12902926G>A	ENST00000302754.4	+	1	617	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	114						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TACCCCCGCGGGGGTGGCAGC	0.667000													4	11					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213521	21213521	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21213521C>T	ENST00000574002.1	-	12	1673	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	ZP2_ENST00000219593.4_Silent_p.R397R|ZP2_ENST00000574091.1_Silent_p.R397R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	397	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTTTCCCACCCTCAGAGTAC	0.532000													14	29					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111775	57111775	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111775G>A	ENST00000454682.1	-	3	3820	c.3539C>T	c.(3538-3540)cCt>cTt	p.P1180L	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGGGGAAGGAGGAGTTGC	0.632000			T	BCL6	NHL								35	159					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911533	88911533	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911533C>T	ENST00000263321.5	+	1	914	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	138					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTGCCTACCTCACTTTAGC	0.443000													25	193					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153524312	153524312	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153524312C>T	ENST00000369915.3	+	1	289	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	34					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CTTGCGAATCCATTCCATCAG	0.622000													21	112					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16611992	16611992	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16611992G>A	ENST00000221671.3	+	2	545	c.389G>A	c.(388-390)aGa>aAa	p.R130K	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.R130K	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	130										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTTCCAAAGAGAGCTGACAGA	0.527000													10	30					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98157001	98157001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:98157001C>T	ENST00000357947.3	-	11	1551	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	442	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGAACTCCACCCAGAGCCGGC	0.582000													19	18					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3313154	3313154	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313154G>A	ENST00000378398.3	+	6	758	c.676G>A	c.(676-678)Gac>Aac	p.D226N	PRDM16_ENST00000514189.1_Missense_Mutation_p.D226N|PRDM16_ENST00000511072.1_Missense_Mutation_p.D226N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D225N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D225N|PRDM16_ENST00000378391.2_Missense_Mutation_p.D225N|PRDM16_ENST00000270722.5_Missense_Mutation_p.D225N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	225					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCCGGCCTGGACGGTAAGAC	0.637000			T	EVI1	"""MDS, AML"""								4	5					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33058317	33058317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058317G>A	ENST00000307363.5	-	14	1507	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	GLB1_ENST00000399402.3_Missense_Mutation_p.L425F|GLB1_ENST00000307377.8_Missense_Mutation_p.L324F|GLB1_ENST00000445488.2_Missense_Mutation_p.L503F|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	455					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTCGCTCAAGGACTCCCTGG	0.478000													14	60					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39138698	39138698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39138698G>A	ENST00000377755.4	-	3	582	c.548C>T	c.(547-549)tCc>tTc	p.S183F	KRT40_ENST00000398486.2_Missense_Mutation_p.S183F			Q6A162	K1C40_HUMAN	keratin 40	183	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527000													15	78					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951419	46951419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46951419G>A	ENST00000311124.4	-	3	985	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SLC19A1_ENST00000567670.1_Missense_Mutation_p.S278L|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S278L|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S238L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	278					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTAGCCGGCCGAGTTGAAGAC	0.672000													35	61					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371161	55371161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55371161C>T	ENST00000302231.4	-	1	713	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTTTTTCTTCCCTTTGGCACT	0.408000													10	20					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809495	48809495	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48809495C>T	ENST00000309835.3	+	1	1733	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	STON1_ENST00000404752.1_Missense_Mutation_p.P575S|STON1_ENST00000406226.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498000													22	141					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877918	26877918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26877918G>A	ENST00000374168.2	+	5	492	c.338G>A	c.(337-339)aGa>aAa	p.R113K	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R122K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R97K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R21K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R21K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R113K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	113	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R122T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGATGGAGAGAGACATCCTG	0.567000													10	24					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67694198G>A	ENST00000219251.8	-	1	515	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_ENST00000393919.4_Missense_Mutation_p.L62F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000													7	35					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302483	123302483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:123302483G>A	ENST00000458573.2	+	2	1000	c.843G>A	c.(841-843)acG>acA	p.T281T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	281						cytoskeleton	actin binding|tropomyosin binding										ACTTCATAACGGGAAAGGGGA	0.552000													32	43					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453381	21453381	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21453381G>A	ENST00000307378.6	-	9	1531	c.811C>T	c.(811-813)Cca>Tca	p.P271S	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.P139S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.P269S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.P139S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.P271S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	271					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCTTCCTTTGGAAGTGTGTTG	0.403000													10	61					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194875	37194875	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:37194875G>A	ENST00000331299.5	-	6	853	c.338C>T	c.(337-339)gCc>gTc	p.A113V	SLC25A21_ENST00000555449.1_Missense_Mutation_p.A113V	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	113					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCCAGCAATGGCGAATGTCTA	0.368000													7	35					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100715333	100715333	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100715333C>T	ENST00000370132.3	-	1	57	c.44G>A	c.(43-45)gGg>gAg	p.G15E	DBT_ENST00000370131.3_Missense_Mutation_p.G15E	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	15					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TACCAGCTTCCCCGCATTCCT	0.582000													9	41					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104940078	104940078	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:104940078C>T	ENST00000436393.2	+	9	1780	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	RIMS2_ENST00000406091.3_Silent_p.S735S|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	810					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGCCAAAGCCTTAGTAGAA	0.353000										HNSCC(12;0.0054)			8	21					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327767	52327767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52327767C>T	ENST00000339223.4	+	2	945	c.766C>T	c.(766-768)Cct>Tct	p.P256S	FPR3_ENST00000595991.1_Missense_Mutation_p.P256S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	256					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGTTGGTTCCCTTATGAACT	0.423000													16	95					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262753	248262753	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248262753C>T	ENST00000366478.2	+	3	413	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	OR2L13_ENST00000358120.2_Missense_Mutation_p.L26F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.L26I(1)		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)			TGGAATATTTCTCTTGTGCCT	0.438000													56	80					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4594552	4594552	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4594552G>A	ENST00000307616.1	-	2	291	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	98										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAAAGCAAGGTCTTTTGTCA	0.488000													32	113					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158531	2158531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158531G>A	ENST00000262304.4	-	15	6845	c.6637C>T	c.(6637-6639)Cgg>Tgg	p.R2213W	PKD1_ENST00000423118.1_Missense_Mutation_p.R2213W	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2213	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCGAGGCCGGCTCACGTCC	0.682000													11	23					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129874967	129874967	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:129874967G>T	ENST00000254667.3	+	18	1979	c.1700G>T	c.(1699-1701)cGa>cTa	p.R567L	PTPRE_ENST00000419012.2_Missense_Mutation_p.R567L|PTPRE_ENST00000306042.5_Missense_Mutation_p.R509L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	567	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCAGTATACGAGACTTTCTG	0.428000													4	196					1	1	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8376134	8376134	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376134G>A	ENST00000332175.8	+	23	4260	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	PTPRM_ENST00000444013.1_Missense_Mutation_p.G862R|PTPRM_ENST00000580170.1_Missense_Mutation_p.G1088R|PTPRM_ENST00000400053.4_Missense_Mutation_p.G1013R|PTPRM_ENST00000400060.4_Missense_Mutation_p.G1089R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGCCTGCTGGGATTCGTGCG	0.587000													9	54					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61583899	61583899	+	Splice_Site	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61583899G>T	ENST00000257261.6	+	1	171		c.e1+1		FADS2_ENST00000522639.1_Splice_Site|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_Intron|FADS2_ENST00000522056.1_5'UTR			O95864	FADS2_HUMAN	fatty acid desaturase 2						electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CGGGCAACAGGTATGATCAGG	0.617000													19	32					1.64113e-05	1.66263e-05	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408933	105408933	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105408933G>A	ENST00000333244.5	-	7	12974	c.12855C>T	c.(12853-12855)tcC>tcT	p.S4285S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4285						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCTAGGGACAGGTCAC	0.612000													128	257					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197348	26197348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26197348G>A	ENST00000377831.5	-	2	584	c.131C>T	c.(130-132)cCc>cTc	p.P44L	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.P44L	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CACCGTGCCGGGCCGGTAACG	0.657000													5	59					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10402027	10402027	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10402027G>A	ENST00000226207.5	-	30	4191	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1366						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTGGCCTTGGACATTGCTCT	0.572000													80	59					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2777999	2777999	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:2777999T>A	ENST00000397461.1	+	4	540	c.156T>A	c.(154-156)gtT>gtA	p.V52V	CNTN4_ENST00000427331.1_Silent_p.V52V|CNTN4_ENST00000418658.1_Silent_p.V52V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	52	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTGAAGTTAAAGGAAATC	0.343000													17	52					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100212952	100212952	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100212952G>A	ENST00000414213.1	-	4	832	c.231C>T	c.(229-231)ctC>ctT	p.L77L	FRRS1_ENST00000287474.5_Silent_p.L77L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	77	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GCGCTTCTAGGAGAAAGCCTT	0.388000													39	99					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41805298	41805298	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41805298G>A	ENST00000263800.6	-	2	160	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	LTK_ENST00000355166.5_Missense_Mutation_p.P22S|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.P22S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	22					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGGGACCCCGGGCTAGAGCAG	0.612000										TSP Lung(18;0.14)			11	9					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28465693	28465693	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28465693C>T	ENST00000261609.7	-	37	5858	c.5750G>A	c.(5749-5751)aGg>aAg	p.R1917K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1917	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCCATCCTGTAGGAGTT	0.597000													64	110					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202171	138202171	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:138202171G>A	ENST00000237289.4	+	9	2154		c.e9-1			NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3						anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTCCACTCAGAGATCGAGCC	0.522000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								18	63					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350374	100350374	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350374G>A	ENST00000542585.1	+	0	2794				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCA	0.502000													28	98					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137154314	137154314	+	Missense_Mutation	SNP	G	G	C	rs150062419		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:137154314G>C	ENST00000453654.1	-	25	2118	c.1579C>G	c.(1579-1581)Cgg>Ggg	p.R527G	DGKI_ENST00000288490.5_Missense_Mutation_p.R827G|DGKI_ENST00000446122.1_Missense_Mutation_p.R809G|DGKI_ENST00000424189.2_Missense_Mutation_p.R830G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	827					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGCACCACCGAGGAGAGAGC	0.522000													26	56					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808904	144808904	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144808904G>A	ENST00000388913.3	-	5	2852	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	909					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTGCGCTCGGGGTAGGCTG	0.677000													5	16					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104878062	104878062	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:104878062C>T	ENST00000393141.2	-	3	252		c.e3-1		CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Splice_Site|CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000526056.1_Splice_Site|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TGGTTGTCTTCTGTCAGAAAT	0.353000													15	97					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677450	100677450	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677450C>T	ENST00000306151.4	+	3	2817	c.2753C>T	c.(2752-2754)aCt>aTt	p.T918I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	918	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGGGAA	0.507000													48	852					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52938270	52938270	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:52938270C>A	ENST00000295213.4	+	6	1080	c.706C>A	c.(706-708)Ctg>Atg	p.L236M	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.L204M	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	236					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)			GCTCCGAAACCTGAAGGAGGA	0.483000													13	68					1.05317e-09	1.07542e-09	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81747119	81747119	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:81747119C>T	ENST00000550584.2	-	16	2069		c.e16-1		PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGATTTCACCTGAATGGTGA	0.373000													15	40					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31829148	31829148	+	Silent	SNP	G	G	A	rs114405905	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31829148G>A	ENST00000375631.4	-	3	561	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	144						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCTCAACATCGCTCACTACTG	0.507000													11	38					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128426323	128426323	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128426323C>T	ENST00000392668.3	-	3	145	c.77G>A	c.(76-78)gGa>gAa	p.G26E	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTTGCTAGGTCCTTGCCTCTG	0.393000													5	22					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470364	10470364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10470364G>A	ENST00000382483.3	-	4	1467	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	415					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTCCCTGGGAGGCATGCAG	0.677000													31	46					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763288	67763288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67763288G>A	ENST00000317506.3	-	10	1362	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	RANBP10_ENST00000602677.1_Missense_Mutation_p.S416F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S187F|RANBP10_ENST00000448631.2_Missense_Mutation_p.S360F|RANBP10_ENST00000411657.2_Missense_Mutation_p.S299F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	416	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		cgaggaggaggaggaggacga	0.567000													22	64					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895224	24895224	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24895224G>A	ENST00000382071.2	+	4	405	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G107E|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	107	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCTTGCAGGGCCCATGGGA	0.582000													4	26					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35715962	35715962	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35715962G>A	ENST00000324675.3	-	2	924	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	292						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACTGGGCCACGAGCTCCTGCT	0.662000													8	33					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156145017	156145017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156145017C>T	ENST00000368285.3	+	13	1842	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	SEMA4A_ENST00000368286.2_Silent_p.L393L|SEMA4A_ENST00000368284.1_Silent_p.L393L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.L525L|SEMA4A_ENST00000368282.1_Silent_p.L525L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	525	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTTGCCTCCTGTCTGCCC	0.617000													36	133					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559115	129559115	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559115C>T	ENST00000422113.2	-	9	2931	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E407K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	869						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAAGGCTTTCCTGGCCTTTC	0.557000													13	49					0	0	1	0	0
GMNN	51053	broad.mit.edu	37	6	24781768	24781768	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24781768C>T	ENST00000230056.3	+	4	525	c.193C>T	c.(193-195)Cct>Tct	p.P65S	GMNN_ENST00000356509.3_Missense_Mutation_p.P65S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	65					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AACTTCCAGCCCTGGGGTTAT	0.373000													10	42					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000													4	12					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792678	131792678	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131792678A>G	ENST00000286355.5	-	18	5806	c.3714T>C	c.(3712-3714)ccT>ccC	p.P1238P	ADCY8_ENST00000377928.3_Silent_p.P1107P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1238					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGGGCTCCAGGCTCTGTGC	0.408000										HNSCC(32;0.087)			42	62					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901244	123901244	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123901244A>T	ENST00000431524.1	+	1	948	c.915A>T	c.(913-915)gtA>gtT	p.V305V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGACAAAGTAGCACATTCTC	0.443000													10	63					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646545	80646545	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:80646545G>A	ENST00000299564.8	-	5	1351	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CDYL2_ENST00000562812.1_Missense_Mutation_p.P400L|CDYL2_ENST00000563890.1_Missense_Mutation_p.P400L|CDYL2_ENST00000566173.1_Missense_Mutation_p.P400L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	399						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGGATCTGGGGGAAGGTGTA	0.632000													18	102					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41158837	41158837	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41158837G>A	ENST00000263413.3	-	13	2171	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	C6_ENST00000337836.5_Missense_Mutation_p.P636L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	636					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTCTATCTCAGGAAGATCGAC	0.393000													19	35					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649796	232649796	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649796G>T	ENST00000366630.1	-	2	1648	c.1290C>A	c.(1288-1290)aaC>aaA	p.N430K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N430K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	430					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGAGGATGAGTTGGCTCGAG	0.512000													30	139					1.61788e-16	1.67544e-16	1	1	0
HELZ	9931	broad.mit.edu	37	17	65105256	65105256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65105256C>T	ENST00000358691.5	-	29	4631	c.4465G>A	c.(4465-4467)Gga>Aga	p.G1489R	HELZ_ENST00000580168.1_Missense_Mutation_p.G1490R	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAGGTAATCCCGAGGGGTTC	0.448000													15	102					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316340	45316340	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316340T>A	ENST00000313237.5	-	3	301	c.151A>T	c.(151-153)Acg>Tcg	p.T51S	PHF21B_ENST00000404079.2_Missense_Mutation_p.T39S|PHF21B_ENST00000396103.3_Missense_Mutation_p.T51S|PHF21B_ENST00000447824.3_Missense_Mutation_p.T39S|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	51							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGAGGACCCGTGACAGGCACT	0.637000													5	11					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563854	51563854	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51563854C>T	ENST00000595793.1	-	2	117	c.75G>A	c.(73-75)aaG>aaA	p.K25K	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.K25K|KLK13_ENST00000595547.1_Silent_p.K25K	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	25					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGTTGAGAACCTTGGAAGACT	0.577000													64	109					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767538	57767538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57767538C>T	ENST00000371030.2	+	1	1464	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACTCCGTCCCCACTCAGC	0.697000													24	33					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21627720	21627720	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21627720T>G	ENST00000328843.6	+	10	1780	c.1749T>G	c.(1747-1749)gtT>gtG	p.V583V	DNAH11_ENST00000409508.3_Silent_p.V583V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	583	Stem (By similarity).				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						AGAAGCCAGTTGTCATGGAAA	0.348000									Kartagener syndrome				10	63					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44741144	44741144	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44741144A>C	ENST00000222673.5	+	20	2604	c.2562A>C	c.(2560-2562)ttA>ttC	p.L854F	OGDH_ENST00000447398.1_Missense_Mutation_p.L865F|OGDH_ENST00000444676.1_Missense_Mutation_p.L869F|OGDH_ENST00000439616.2_Missense_Mutation_p.L704F|OGDH_ENST00000543843.1_Missense_Mutation_p.L805F|OGDH_ENST00000449767.1_Missense_Mutation_p.L850F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	854					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)	TATTTCAGTTAATTATCTTCA	0.498000													21	34					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347144	71347144	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71347144C>T	ENST00000413702.1	+	4	971	c.683C>T	c.(682-684)tCc>tTc	p.S228F	MUC7_ENST00000304887.5_Missense_Mutation_p.S228F|MUC7_ENST00000456088.1_Missense_Mutation_p.S228F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	228	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.582000													29	103					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523492	49523492	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49523492G>A	ENST00000336023.5	-	2	111	c.17C>T	c.(16-18)tCc>tTc	p.S6F	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	6					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AACGTGGATGGAGATGCACTC	0.483000													13	62					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41313799C>T	ENST00000377801.3	-	3	960	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448000													20	31					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7902768	7902768	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:7902768G>A	ENST00000377532.3	+	21	3810	c.3586G>A	c.(3586-3588)Ggt>Agt	p.G1196S	PER3_ENST00000361923.2_Missense_Mutation_p.G1187S			P56645	PER3_HUMAN	period circadian clock 3	1187	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCTGATGGTGCGGCCAC	0.448000													17	56					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192980899	192980899	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:192980899C>T	ENST00000264735.2	+	3	689	c.595C>T	c.(595-597)Cct>Tct	p.P199S	HRASLS_ENST00000602513.1_Missense_Mutation_p.P94S	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	94										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CCCCCCTCTCCCTGTGGAAGA	0.428000													21	90					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36580098	36580098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:36580098C>T	ENST00000431169.1	-	16	1434		c.e16-1		AOAH_ENST00000535891.1_Splice_Site|AOAH_ENST00000538464.1_Splice_Site|AOAH_ENST00000258749.5_Splice_Site|AOAH_ENST00000491444.1_Splice_Site	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCACTCTTCCTGTTGGTGGA	0.458000													20	97					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228094	74228094	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74228094C>T	ENST00000316292.9	-	5	2003	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A338T|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A338T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	338						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGAAGCCAGCTGCTTCCATT	0.423000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	71					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679479	160679479	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:160679479A>C	ENST00000366952.1	-	3	1729	c.248T>G	c.(247-249)gTg>gGg	p.V83G	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.V104G			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	104					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGGGGGTCCACGCAGTCGAA	0.682000													16	65					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107456851	107456851	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:107456851C>T	ENST00000318763.5	+	1	192	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GTGGGGCTTTCCCAATATCCA	0.448000													24	85					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256377	47256377	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47256377C>T	ENST00000256996.4	+	6	967	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.L194L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	258					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TGATTGGTTCCTGGCCACAGC	0.537000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	35					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24324313G>A	ENST00000175238.6	+	6	474	c.389_splice	c.e6-1	p.G131_splice	ADAM7_ENST00000380789.1_Splice_Site_p.G131_splice|ADAM7_ENST00000441335.2_Splice_Site_p.G131_splice|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	131					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCTACAGGGGATTCTTCAG	0.378000													11	59					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020705	58020705	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58020705G>A	ENST00000341156.4	-	11	2008	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.S420F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	475					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCGGAGCAGGAGCCAACCCG	0.582000													7	27					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18045392	18045392	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18045392G>A	ENST00000205890.5	+	24	5987		c.e24-1		MYO15A_ENST00000412324.1_Splice_Site	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGTCCTTAGCTGTTCCTTA	0.577000													71	44					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3019763	3019763	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3019763G>A	ENST00000520002.1	-	39	6320	c.5765C>T	c.(5764-5766)cCc>cTc	p.P1922L	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1922L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1922L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1922L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1922	Sushi 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTTGCTGGGGAGGGCTGG	0.458000													9	7					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200173603	200173603	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:200173603G>A	ENST00000443023.1	-	9	2908	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	SATB2_ENST00000428695.1_Silent_p.T422T|SATB2_ENST00000457245.1_Silent_p.T540T|SATB2_ENST00000417098.1_Silent_p.T540T|SATB2_ENST00000260926.5_Silent_p.T540T			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	540						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGACGGATGGTACAGAGGT	0.572000													16	63					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777850	237777850	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237777850G>A	ENST00000366574.2	+	37	5739	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1806N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1792N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1808	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)			TCATGCCCGGGACCCAGTTGG	0.478000													45	168					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206317632	206317632	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206317632G>A	ENST00000361052.3	+	1	174	c.56G>A	c.(55-57)gGa>gAa	p.G19E	CTSE_ENST00000358184.2_Missense_Mutation_p.G19E|CTSE_ENST00000360218.2_Missense_Mutation_p.G19E|CTSE_ENST00000432969.2_5'UTR			P14091	CATE_HUMAN	cathepsin E	19					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGGCCCAAGGATCCCTTCAC	0.582000													20	49					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101824951	101824951	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101824951G>A	ENST00000370418.3	-	4	1004	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	251	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATACCTTCTGGAAGAGCTTGT	0.612000													45	34					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655841	62655841	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62655841C>T	ENST00000377892.1	+	13	1886	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SLC3A2_ENST00000338663.7_Silent_p.F422F|SLC3A2_ENST00000377890.2_Silent_p.F523F|SLC3A2_ENST00000535296.1_Silent_p.F492F|SLC3A2_ENST00000377891.2_Silent_p.F524F|SLC3A2_ENST00000377889.2_Silent_p.F461F|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_Silent_p.F68F			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	523					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTTCCTTGTTCCGGCGGCTGA	0.572000													16	75					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047121	220047121	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220047121C>T	ENST00000430297.2	+	9	1538	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	468						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCATTCTCCCACCTGTTCC	0.627000													27	60					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953821	56953821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56953821G>A	ENST00000504904.3	-	7	1262	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ZNF667_ENST00000342634.3_Silent_p.F309F|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.F181F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGATCTGTCTGAAAGCTTTTC	0.383000													25	121					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785525	151785525	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151785525C>T	ENST00000356728.6	-	8	1274	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.E449K|RORC_ENST00000318247.6_Missense_Mutation_p.E395K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	395	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGATGAGCTCGCTGCAGCCT	0.532000													4	25					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568989	114568989	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114568989C>T	ENST00000375475.5	+	3	453	c.355C>T	c.(355-357)Cct>Tct	p.P119S	NXPE2_ENST00000389586.4_Missense_Mutation_p.P119S					neurexophilin and PC-esterase domain family, member 2																		CATCCTCAACCCTCAAGATAC	0.547000													18	48					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173050	171173050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171173050C>T	ENST00000441535.1	+	6	791	c.674C>T	c.(673-675)tCt>tTt	p.S225F	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S225F|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	225					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCGTATCTCTGAAGATGGC	0.473000													8	30					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225815	153225815	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153225815G>A	ENST00000310441.7	-	7	1921	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	HCFC1_ENST00000369984.4_Missense_Mutation_p.P319S|HCFC1_ENST00000354233.3_Missense_Mutation_p.P319S|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	319					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCACGGGGGATGTTGTCC	0.617000													9	11					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214206	3214206	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3214206G>A	ENST00000380059.3	-	7	913	c.812C>T	c.(811-813)tCc>tTc	p.S271F	SLC4A11_ENST00000539553.1_Missense_Mutation_p.S228F|SLC4A11_ENST00000380056.3_Missense_Mutation_p.S244F|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	244					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AACCTCACAGGAATTCTCCCC	0.642000													13	79					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134451	128134451	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128134451C>T	ENST00000368250.1	-	5	1596	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	THEMIS_ENST00000368248.2_Silent_p.P445P|THEMIS_ENST00000537166.1_Silent_p.P410P|THEMIS_ENST00000543064.1_Silent_p.P445P			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	445	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTCAGAAATCGGGTACTGTT	0.468000													32	115					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4385175	4385175	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385175G>A	ENST00000262366.3	+	6	1458	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	GLIS2_ENST00000433375.1_Missense_Mutation_p.G213S|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGCCCGCCATGGCCGAGGTTT	0.652000													23	49					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420074	74420074	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:74420074G>A	ENST00000377669.2	-	3	586	c.560C>T	c.(559-561)cCc>cTc	p.P187L	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P187L	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TACCACCACGGGGATGCGGTG	0.507000													18	67					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815393	43815393	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43815393G>A	ENST00000382031.1	+	5	2467	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MAP1A_ENST00000300231.5_Silent_p.Q574Q|MAP1A_ENST00000399453.1_Silent_p.Q574Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	574						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCTATCCAGGGAACACCAC	0.542000													33	34					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437850	58437850	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58437850C>T	ENST00000396147.1	-	4	1990	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ZNF418_ENST00000595830.1_Missense_Mutation_p.E567K|ZNF418_ENST00000599852.1_Missense_Mutation_p.E482K|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.E588K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		TCTCTGCACTCATAAGGTCTT	0.438000													24	71					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766428	20766428	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:20766428G>A	ENST00000359062.3	+	3	1103	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGAGGCCCACGGCCTCATTAC	0.537000													10	91					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536083	79536083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79536083G>A	ENST00000374747.5	-	14	1537	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	NPLOC4_ENST00000331134.6_Missense_Mutation_p.P470S|NPLOC4_ENST00000539314.1_Missense_Mutation_p.P309S			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	470					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATAGGAAATGGATTTTGCGAA	0.368000													16	79					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114500596	114500596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114500596C>T	ENST00000394779.3	-	8	1316	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	C9orf84_ENST00000318737.4_Missense_Mutation_p.E397K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E397K|C9orf84_ENST00000374283.5_Missense_Mutation_p.E461K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E358K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	397										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAAATATCTCAATTTTAGTG	0.289000													11	61					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578350	58578350	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578350G>A	ENST00000506786.1	+	5	926	c.372G>A	c.(370-372)ggG>ggA	p.G124G	ZNF135_ENST00000401053.4_Silent_p.G190G|ZNF135_ENST00000313434.5_Silent_p.G166G|ZNF135_ENST00000439855.2_Silent_p.G166G|ZNF135_ENST00000359978.6_Silent_p.G178G|ZNF135_ENST00000511556.1_Silent_p.G178G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	178					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)		ATGGGTTTGGGGAAAACATAA	0.542000													19	27					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023594	76023594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76023594C>T	ENST00000393004.2	-	5	2175	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.D553N|FILIP1_ENST00000237172.7_Missense_Mutation_p.D652N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	652										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCATCAAATCCCCTTCGACC	0.418000													59	227					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614430	3614430	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3614430C>T	ENST00000301749.7	-	0	913				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCGAGAAGTCCTTGCCGACC	0.657000													4	50					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559604	129559604	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559604C>T	ENST00000422113.2	-	9	2442	c.2115_splice	c.e9-1	p.E706_splice	TMEM132D_ENST00000389441.4_Splice_Site_p.E244_splice	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	706						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCTGCTTCCTATGGAGAA	0.443000													4	36					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125460001	125460001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125460001G>A	ENST00000308736.2	-	6	1042	c.944C>T	c.(943-945)tCc>tTc	p.S315F	DHX37_ENST00000544745.1_Missense_Mutation_p.S102F	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	315	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)		CACTCGCTGGGACATGGCCAC	0.647000													25	55					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142048324	142048324	+	Silent	SNP	G	G	A	rs139447998		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:142048324G>A	ENST00000264951.4	-	37	4470	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S	XRN1_ENST00000392981.2_Silent_p.S1452S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1451					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCCAACAAGGGAACAAATTC	0.388000													12	31					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245576	94245576	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245576G>A	ENST00000393140.1	-	3	277	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P59S|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P59S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	59	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		gggggcagcgggggagggggc	0.637000													3	11					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254458	155254458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155254458C>T	ENST00000368358.3	+	4	1007	c.999C>T	c.(997-999)atC>atT	p.I333I	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	333						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGCATGATCGTAGGTGCCA	0.597000													8	27					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318203	40318203	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40318203A>C	ENST00000593685.1	-	7	1369	c.901T>G	c.(901-903)Tgc>Ggc	p.C301G	DYRK1B_ENST00000430012.2_Missense_Mutation_p.C301G|DYRK1B_ENST00000348817.3_Missense_Mutation_p.C301G|DYRK1B_ENST00000323039.5_Missense_Mutation_p.C301G|DYRK1B_ENST00000597639.1_Missense_Mutation_p.C301G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	301	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACAAGGATGCAGCCCAGGGAC	0.612000													4	45					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111776107	111776107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111776107G>A	ENST00000261726.6	+	20	3368	c.3214G>A	c.(3214-3216)Gaa>Aaa	p.E1072K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1072						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGTTTGGGGAAAGCATCCT	0.622000													9	68					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42399446	42399446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42399446G>A	ENST00000599846.1	+	12	1027	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R301Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R268Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R316Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R283Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	301					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTACAGACCGGAAGGGAGGC	0.607000													16	69					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43572214	43572214	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:43572214G>A	ENST00000372813.3	-	6	857	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	235					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CCAAATAGCAGAGTGCTCTGA	0.498000													33	113					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315256	50315256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:50315256C>T	ENST00000404488.3	+	5	574	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CRELD2_ENST00000407217.3_Missense_Mutation_p.P147S|CRELD2_ENST00000328268.4_Missense_Mutation_p.P147S|CRELD2_ENST00000403427.3_Missense_Mutation_p.P147S|CRELD2_ENST00000444954.1_3'UTR	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	147	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCCAGAGGCCCTGCAGCGG	0.642000													8	26					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123744130	123744130	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123744130G>A	ENST00000223642.1	-	27	3507	c.3478C>T	c.(3478-3480)Ccc>Tcc	p.P1160S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1160					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACCACCAGGGGGCATATATCG	0.413000													6	33					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74427025	74427025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74427025G>A	ENST00000361742.3	+	4	2699	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.D644N|ISLR2_ENST00000445793.1_Missense_Mutation_p.D644N|ISLR2_ENST00000435464.1_Missense_Mutation_p.D644N|ISLR2_ENST00000419208.1_Missense_Mutation_p.D644N|ISLR2_ENST00000453268.2_Missense_Mutation_p.D644N|ISLR2_ENST00000565540.1_Missense_Mutation_p.D644N	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	644					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CATCGCCGCAGACTTCGACCC	0.687000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	47					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945375	119945375	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:119945375G>A	ENST00000297350.4	-	2	573	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	65					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGTGGTCAGGGCAAGGGGCGC	0.527000													84	174					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15812401	15812401	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15812401G>A	ENST00000375910.3	+	6	524	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	167	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TTCAGCCAACGGGGCTCTCCC	0.562000													39	116					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121778	38121778	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121778G>A	ENST00000406386.3	+	7	3470	c.3215G>A	c.(3214-3216)cGg>cAg	p.R1072Q	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1072					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATGCCCCCCGGGCGTCCTCG	0.652000													10	44					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22931949	22931949	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22931949C>T	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							CCAAACCATCCGTTTTTGTCA	0.383000													12	15					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190930354	190930354	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190930354C>T	ENST00000445281.1	+	2	100	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OSTN_ENST00000339051.1_Silent_p.F11F			P61366	OSTN_HUMAN	osteocrin	11					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GTGCACATTTCATCCTGGCTG	0.398000													17	21					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173779	64173779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:64173779C>T	ENST00000261234.6	+	1	197	c.39C>T	c.(37-39)atC>atT	p.I13I	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	13						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CGTTTCTTATCGCCCTGTACT	0.682000													22	25					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20911202	20911202	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:20911202A>G	ENST00000261497.4	-	9	1414	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.V392A	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	404					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AAAACAGGCTACGATGGGCAG	0.483000													25	66					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72950299	72950299	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72950299C>T	ENST00000425042.2	-	14	1875	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_030630.2	NP_085133.1			HID1 domain containing																		CGGGAGCCCTCCATGGAGGTG	0.687000													4	17					0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205446	149205446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:149205446G>A	ENST00000305354.4	+	3	1209	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	102						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATTCTTGGGAGCTGGATAC	0.478000													17	58					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294627	5294627	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294627G>A	ENST00000546004.1	-	2	635	c.389C>T	c.(388-390)tCc>tTc	p.S130F	PROKR2_ENST00000217270.3_Missense_Mutation_p.S130F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTAGTTGACGGAGGCACAGAG	0.607000										HNSCC(71;0.22)			13	56					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319187	54319187	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:54319187C>T	ENST00000329734.3	-	2	1318	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	202	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGCGTTTCCCTCCTCGTCAG	0.647000													19	27					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90296363	90296363	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90296363G>C	ENST00000469640.2	+	20	2421	c.2046G>C	c.(2044-2046)caG>caC	p.Q682H	DAPK1_ENST00000408954.3_Missense_Mutation_p.Q682H|DAPK1_ENST00000491893.1_Missense_Mutation_p.Q682H|DAPK1_ENST00000472284.1_Missense_Mutation_p.Q682H|DAPK1_ENST00000358077.5_Missense_Mutation_p.Q682H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCCACACAGAACCTGCAGC	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				35	182					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058129	48058129	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48058129C>T	ENST00000316364.5	+	14	1930	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	SEMA6D_ENST00000354744.4_Silent_p.H497H|SEMA6D_ENST00000558014.1_Silent_p.H497H|SEMA6D_ENST00000536845.2_Silent_p.H497H|SEMA6D_ENST00000358066.4_Silent_p.H497H|SEMA6D_ENST00000389432.2_Silent_p.H497H|SEMA6D_ENST00000558816.1_Silent_p.H497H|SEMA6D_ENST00000389428.3_Silent_p.H497H|SEMA6D_ENST00000355997.3_Silent_p.H497H|SEMA6D_ENST00000389433.2_Silent_p.H497H|SEMA6D_ENST00000537942.1_Silent_p.H497H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	497	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGATCACCACGCTTTATATG	0.413000													21	97					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223030	99223030	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99223030C>T	ENST00000547776.2	-	19	2987	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	ANKS1B_ENST00000341752.7_Silent_p.Q2Q|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Silent_p.Q222Q|ANKS1B_ENST00000546960.1_Silent_p.Q222Q|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000329257.7_Silent_p.Q996Q|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000333732.7_Silent_p.Q2Q|ANKS1B_ENST00000332712.7_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	996						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGCATCGCCCTGCATGATAA	0.468000													41	221					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30660007	30660007	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30660007G>A	ENST00000215781.2	-	3	664	c.624C>T	c.(622-624)gtC>gtT	p.V208V	OSM_ENST00000403389.1_Silent_p.V187V	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	208					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			ACTTGCTGAAGACCCGCCCCA	0.667000													12	50					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518236	85518236	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85518236G>A	ENST00000393217.2	+	17	4007	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCATTTAAGGAAGTAGTAAT	0.323000													119	250					0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131545	151131545	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131545G>A	ENST00000368910.3	+	2	498	c.372G>A	c.(370-372)cgG>cgA	p.R124R		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	124					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGAGTGCCGGGATGTGCTGC	0.602000													11	38					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43464703	43464703	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43464703G>A	ENST00000282041.5	-	30	5217	c.5183C>T	c.(5182-5184)tCc>tTc	p.S1728F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1728					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						AGACAGCAGGGAGCAGAGCCT	0.418000													15	29					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533728	155533728	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155533728G>A	ENST00000404648.3	-	1	273	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	FGG_ENST00000336098.3_Missense_Mutation_p.L12F|FGG_ENST00000407946.1_Missense_Mutation_p.L12F|FGG_ENST00000405164.1_Missense_Mutation_p.L12F	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	12					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGAAGTAGAGAATTAAATTC	0.438000													12	65					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581856	77581856	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77581856A>C	ENST00000355619.5	-	5	1035	c.711T>G	c.(709-711)agT>agG	p.S237R	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	237					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ACAACTCATCACTCAATAAGT	0.378000													9	48					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110422844	110422844	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:110422844G>A	ENST00000392589.1	-	10	2305	c.1469C>T	c.(1468-1470)aCc>aTc	p.T490I	WASF1_ENST00000392586.1_Missense_Mutation_p.T490I|WASF1_ENST00000359451.2_Missense_Mutation_p.T490I|WASF1_ENST00000392587.2_Missense_Mutation_p.T490I|WASF1_ENST00000392588.1_Missense_Mutation_p.T490I	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	490					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACAGGTAGGGTTGATGGATG	0.468000													32	123					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446683	11446683	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446683C>T	ENST00000423059.3	-	21	4168		c.e21-1		AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATCATTTTTCCTTGAAGAGAT	0.458000										HNSCC(18;0.044)			5	45					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957535	50957535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50957535C>T	ENST00000357701.5	+	18	1974	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	641	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCCAGACCCCCCGGAGGCTG	0.652000													4	61					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256431	84256431	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256431C>T	ENST00000308251.4	-	3	1020	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGCCGTCCTCCGGGGGCTCC	0.647000													3	18					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149591	18149591	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18149591C>T	ENST00000375406.1	+	2	304	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	30						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582000													15	36					0	0	1	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56109967	56109967	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56109967C>T	ENST00000550412.1	+	1	148	c.132C>T	c.(130-132)cgC>cgT	p.R44R	BLOC1S1_ENST00000548925.1_Silent_p.R44R|BLOC1S1_ENST00000257899.2_Silent_p.R16R|BLOC1S1_ENST00000549147.1_Silent_p.R44R																endometrium(1)|lung(1)	2						AGAATGAACGCAAGGAGCTGC	0.622000													4	12					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645826	58645826	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:58645826G>A	ENST00000313426.1	+	4	550	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	82										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCAGTCAAGAGAGCTGGGAAA	0.468000													5	57					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125855667	125855667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:125855667C>T	ENST00000393434.2	-	11	1633	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	ALDH1L1_ENST00000273450.3_Silent_p.G438G|ALDH1L1_ENST00000472186.1_Silent_p.G428G|ALDH1L1_ENST00000393431.2_Silent_p.G428G|ALDH1L1_ENST00000452905.2_Silent_p.G327G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	428	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACGAACTCCCCCCCAATGA	0.592000													4	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616729	179616729	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179616729C>T	ENST00000360870.5	-	46	10620	c.10398G>A	c.(10396-10398)agG>agA	p.R3466R	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3471							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)			CACGTGTATCCCTTTCTGAAT	0.358000													68	138					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764657	89764657	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89764657G>A	ENST00000289805.5	-	3	428	c.360C>T	c.(358-360)ctC>ctT	p.L120L	SPATA2L_ENST00000335360.7_Silent_p.L120L	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	120								p.L120L(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTCTTCAGGAGGAGGTCGT	0.647000													30	211					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860564	27860564	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:27860564C>T	ENST00000359611.2	-	1	399	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	122					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGGTGGCTCTCAGTCTTCTTG	0.498000													23	90					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246869	56246869	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56246869C>T	ENST00000361673.3	-	4	1352	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	380							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACAACCCATTCCACTGAGGAA	0.537000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	16					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31071301	31071301	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31071301G>A	ENST00000206595.6	+	10	1128	c.974G>A	c.(973-975)aGa>aAa	p.R325K	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.R355K|G2E3_ENST00000438909.2_Missense_Mutation_p.R279K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	325					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.R325K(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATTACCCAGACAGTCACCT	0.348000													26	44					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021730	73021730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021730C>T	ENST00000263674.3	+	1	2397	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	683					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACCATGGCCCTGGGACTGA	0.657000													12	44					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680577	73680577	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73680577C>T	ENST00000264448.6	+	8	7031	c.6920C>T	c.(6919-6921)tCc>tTc	p.S2307F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S2307F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2265F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2307					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAACCCTCTTCCACGGGTGTA	0.433000													24	47					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503696	47503696	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503696C>A	ENST00000404338.3	+	6	4251	c.4251C>A	c.(4249-4251)gcC>gcA	p.A1417A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1417	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCTCACAGCCACGCGCACCT	0.557000													49	176					6.14515e-18	6.36865e-18	1	1	0
SMARCD1	6602	broad.mit.edu	37	12	50483706	50483706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50483706C>T	ENST00000394963.4	+	7	1209	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.Q69*|SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.Q271*	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	271	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CGATGGCTTTCAGGTGAAGCG	0.582000													13	58					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251133	251133	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:251133C>T	ENST00000264932.6	+	12	1693	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	SDHA_ENST00000510361.1_Silent_p.F478F|SDHA_ENST00000504309.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	526					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGCCGTGTTCCGTGTGGGAA	0.448000									Familial Paragangliomas				15	81					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212050	8212050	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8212050C>T	ENST00000307637.4	-	2	935	c.732G>A	c.(730-732)agG>agA	p.R244R		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	244					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAGCAGAACCCCTAGGGAGTG	0.418000													18	76					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855233	23855233	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23855233C>T	ENST00000405093.3	-	34	5137	c.5067G>A	c.(5065-5067)gaG>gaA	p.E1689E	MYH6_ENST00000356287.3_Silent_p.E1689E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1689					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)		CGGCACGCAGCTCCTCCAGCT	0.642000													12	33					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140716	143140716	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143140716G>A	ENST00000332690.1	+	1	171	c.171G>A	c.(169-171)aaG>aaA	p.K57K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	57					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTTGTGATAAGTTATTGGTTA	0.498000													35	69					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21562583	21562583	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21562583G>A	ENST00000524240.1	-	6	1609	c.959C>T	c.(958-960)tCc>tTc	p.S320F	GFRA2_ENST00000400782.4_Missense_Mutation_p.S215F|GFRA2_ENST00000517328.1_Missense_Mutation_p.S320F|GFRA2_ENST00000518077.1_Missense_Mutation_p.S187F	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	320						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACCAGGGGGACACCACGAT	0.592000													3	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000													28	74					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88586522	88586522	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586522C>T	ENST00000266712.6	+	13	2068	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAATGAAGCCCTAAAAAACT	0.343000													29	76					0	0	1	0	0
DEFB127	140850	broad.mit.edu	37	20	139628	139628	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:139628T>G	ENST00000382388.3	+	2	338	c.263T>G	c.(262-264)aTa>aGa	p.I88R		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	88					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTTACAATAATAGAAAATTTC	0.363000													21	31					0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956455	209956455	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956455G>A	ENST00000294811.1	-	2	781	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	175										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AGCCCAGGAGGATCCCAAATA	0.502000													46	57					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46993686	46993686	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46993686C>T	ENST00000371253.2	-	4	396	c.181G>A	c.(181-183)Gag>Aag	p.E61K	GPR110_ENST00000371243.2_Missense_Mutation_p.E61K|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCTCTTTTCTCCTTGGAATCT	0.413000													20	82					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102483019	102483019	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:102483019C>T	ENST00000413150.2	+	17	1900	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S	MAP4K4_ENST00000425019.1_Silent_p.S669S|MAP4K4_ENST00000350878.4_Silent_p.S673S|MAP4K4_ENST00000302217.5_Silent_p.S500S|MAP4K4_ENST00000456652.1_Silent_p.S499S|MAP4K4_ENST00000350198.4_Silent_p.S616S|MAP4K4_ENST00000347699.4_Silent_p.S700S|MAP4K4_ENST00000324219.4_Silent_p.S778S	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	700					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGTGGCTCCGGGGAACGCT	0.542000													17	37					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6472240	6472240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6472240G>A	ENST00000525074.1	-	9	2146	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D	TRIM3_ENST00000345851.3_Silent_p.D584D|TRIM3_ENST00000537602.1_Silent_p.D506D|TRIM3_ENST00000536344.1_Silent_p.D465D|TRIM3_ENST00000359518.3_Silent_p.D584D	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	584					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCATTCCGGTCTACGGCCA	0.547000													15	44					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953191	25953191	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953191G>A	ENST00000356865.6	-	12	2618	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTTCCAGGGAGGATTCGGC	0.527000													20	47					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016234	134016234	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016234G>T	ENST00000338492.4	+	12	1530	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	456					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)		GGCGCTGGAGGACGGGAAGAT	0.617000													40	28					6.45866e-13	6.63514e-13	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35449808	35449808	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35449808T>C	ENST00000404801.1	-	4	1337	c.951A>G	c.(949-951)aaA>aaG	p.K317K	ZNF792_ENST00000605484.1_Silent_p.K250K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTGAAGAATTTTCCACATT	0.488000													5	18					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58235145	58235145	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58235145T>G	ENST00000300900.4	+	5	608	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	170					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCTTTCTGGTGGAGGTGGGA	0.587000													5	35					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887665	97887665	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:97887665G>A	ENST00000356526.2	+	1	122	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCATCATGGGGAATCTTGGT	0.408000													87	144					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128446882	128446882	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128446882G>A	ENST00000297788.4	+	9	1756	c.1389G>A	c.(1387-1389)acG>acA	p.T463T	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Silent_p.T410T|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCAGGGATACGGTGGCCTCCT	0.552000													9	17					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66391953	66391953	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66391953C>T	ENST00000310137.4	+	2	745	c.606C>T	c.(604-606)gcC>gcT	p.A202A	RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000461478.1_3'UTR|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	202					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ATGGGCAAGCCCGTCAGCCCA	0.632000													10	55					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78587049	78587049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78587049C>T	ENST00000396137.4	+	4	1916	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	485	Interaction with p300/EP300 (By similarity).				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TATGCAGTTTCTAAGGAAACT	0.403000													24	36					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486564	76486564	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:76486564G>A	ENST00000307431.8	+	9	1613	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E338K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E362K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E414K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	411	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTGTTCAGTGAACTTCAGCT	0.463000													19	77					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13407500	13407500	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637000													9	34					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550507	8550507	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550507C>T	ENST00000348943.3	+	15	1310	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	HNRNPM_ENST00000325495.4_Missense_Mutation_p.P399S	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	399					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGGAAGCGTCCCTGGGATCGA	0.637000													23	95					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522645	31522645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31522645C>T	ENST00000331075.5	+	4	1481	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	INPP5J_ENST00000412277.2_Missense_Mutation_p.L411F|INPP5J_ENST00000400294.2_Missense_Mutation_p.L111F|INPP5J_ENST00000404390.3_Missense_Mutation_p.L110F|INPP5J_ENST00000405300.1_Missense_Mutation_p.L111F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	478	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGACGCCCTCTTCACGGA	0.617000													39	150					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622558	156622558	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622558G>A	ENST00000329117.4	+	8	2152	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E606K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	606					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTACCAGGGAGCTGGAGGC	0.652000													3	27					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264150	69264150	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:69264150C>T	ENST00000551568.1	-	5	521	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CPM_ENST00000338356.3_Missense_Mutation_p.R154Q|CPM_ENST00000546373.1_Missense_Mutation_p.R154Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	154					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGGGAAATTTCGATTCAAGTC	0.403000													13	91					0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630871	19630871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630871C>T	ENST00000235835.3	-	7	949	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	310					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCGTCCCCGTGGGCACCC	0.647000													29	67					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	15					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87638235	87638235	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:87638235G>T	ENST00000320005.5	-	13	1601	c.1554C>A	c.(1552-1554)atC>atA	p.I518I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	518					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTGCTGATGATGCTGAAGT	0.378000													12	54					0.411799	0.412561	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	C1orf173_ENST00000420661.2_Silent_p.P213P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	410								p.P410P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000													25	84					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938472	152938472	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152938472C>T	ENST00000393831.2	-	2	494	c.60G>A	c.(58-60)agG>agA	p.R20R	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.R37R|PNCK_ENST00000340888.3_Silent_p.R20R|PNCK_ENST00000370142.1_Silent_p.R20R|PNCK_ENST00000370150.1_Silent_p.R20R|PNCK_ENST00000447676.2_Silent_p.R103R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	20	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					acGAGCCGAGCCTCTCGCGGA	0.597000													4	13					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026070	64026070	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64026070G>A	ENST00000540288.1	+	11	1241	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	PLCB3_ENST00000279230.6_Missense_Mutation_p.G380S|PLCB3_ENST00000325234.5_Missense_Mutation_p.G313S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	380	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATTACCCACGGCTTCACCAT	0.632000													17	93					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554341	123554341	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:123554341C>T	ENST00000422452.2	-	25	4865	c.4802G>A	c.(4801-4803)gGc>gAc	p.G1601D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1594D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CGGCATTCCGCCTGCATCACG	0.493000													9	39					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613075	3613075	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3613075G>A	ENST00000301749.7	-	0	2268				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGCTCAGGGACAGGTTGG	0.706000													3	6					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841642	100841642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:100841642C>T	ENST00000369208.3	-	11	2073	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	SIM1_ENST00000262901.4_Missense_Mutation_p.D431N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	431	Single-minded C-terminal.				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)		CACGATGCGTCGTGCTGGGAG	0.602000													18	35					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41687185	41687185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41687185G>A	ENST00000260361.4	-	3	1012	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	211					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCACGTACACGGAGATACAGA	0.433000													35	35					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86988967	86988967	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:86988967T>G	ENST00000395169.3	-	10	1550	c.830A>C	c.(829-831)gAt>gCt	p.D277A	MAPK10_ENST00000395161.2_Missense_Mutation_p.D315A|MAPK10_ENST00000359221.3_Missense_Mutation_p.D315A|MAPK10_ENST00000395157.3_Missense_Mutation_p.D170A|MAPK10_ENST00000449047.2_Missense_Mutation_p.D170A|MAPK10_ENST00000395166.1_Missense_Mutation_p.D277A|MAPK10_ENST00000361569.2_Missense_Mutation_p.D315A|MAPK10_ENST00000395160.3_Missense_Mutation_p.D170A	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	315	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGAGGGAATCTGGGAAGAG	0.493000													21	32					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536025	6536025	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6536025C>T	ENST00000377748.1	-	4	843	c.346G>A	c.(346-348)Gag>Aag	p.E116K	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E116K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E108K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E95K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E76K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E39K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E39K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E118K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E39K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	95					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCCTCCTCCTCCAAGTCC	0.642000											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432930	31432930	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31432930C>T	ENST00000261592.5	-	11	2090	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	NOL4_ENST00000269185.4_Missense_Mutation_p.R382K|NOL4_ENST00000589544.1_Missense_Mutation_p.R496K|NOL4_ENST00000538587.1_Missense_Mutation_p.R524K|NOL4_ENST00000535384.1_Missense_Mutation_p.R313K|NOL4_ENST00000535475.1_Missense_Mutation_p.R379K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	598						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CAGCTGGGGTCTGGAGTTTGA	0.453000													13	44					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49284871	49284871	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49284871G>T	ENST00000559471.1	-	18	3139	c.2876C>A	c.(2875-2877)aCa>aAa	p.T959K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T914K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	959										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCCAGTCTCTGTACTCTGCTG	0.498000													19	94					3.32936e-07	3.3831e-07	1	1	0
MS4A7	58475	broad.mit.edu	37	11	60152592	60152592	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60152592C>T	ENST00000300184.3	+	3	375	c.179C>T	c.(178-180)tCa>tTa	p.S60L	MS4A7_ENST00000530234.2_Missense_Mutation_p.S60L|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000358246.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	60						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGTTGATTTCAAGTCTGGGG	0.448000													67	141					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15971756	15971756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:15971756C>T	ENST00000380701.3	+	26	4231	c.3903C>T	c.(3901-3903)ccC>ccT	p.P1301P	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1301																	ATACTGTGCCCCATGCTCTGA	0.388000													101	59					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350375	100350375	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350375G>A	ENST00000542585.1	+	0	2795				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACGGAAAAACCCAC	0.507000													27	97					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111743	57111743	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111743G>A	ENST00000454682.1	-	3	3852	c.3571C>T	c.(3571-3573)Ccc>Tcc	p.P1191S	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTGGGGGATGGGGTA	0.627000			T	BCL6	NHL								28	163					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766128	13766128	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13766128G>A	ENST00000265104.4	-	59	10162	c.10058C>T	c.(10057-10059)tCc>tTc	p.S3353F	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3353	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATTTTAAGGATTCCTGCCA	0.448000									Kartagener syndrome				29	121					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23499976	23499976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23499976G>A	ENST00000309859.4	-	6	612	c.530C>T	c.(529-531)tCt>tTt	p.S177F	GGA2_ENST00000567468.1_Missense_Mutation_p.S177F	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	177					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGGGAGATGGTGGGGG	0.418000													54	109					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091872	30091872	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:30091872C>T	ENST00000567636.1	+	0	247					NR_003558.1																						TTTATGAACCCCACAGACCAA	0.383000													15	53					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550506	8550506	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550506C>T	ENST00000348943.3	+	15	1309	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	HNRNPM_ENST00000325495.4_Silent_p.V398V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	398					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCGTCCCTGGGATCG	0.632000													23	95					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86803936	86803936	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:86803936C>T	ENST00000394703.5	+	9	1033	c.470C>T	c.(469-471)tCc>tTc	p.S157F	DMTF1_ENST00000411766.2_Missense_Mutation_p.S116F|DMTF1_ENST00000331242.7_Missense_Mutation_p.S157F|DMTF1_ENST00000432937.2_Missense_Mutation_p.S69F|DMTF1_ENST00000394702.3_Missense_Mutation_p.S157F|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.S157F	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	157	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GGGATGTGGTCCAAGGAAGAA	0.299000													28	56					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830270	26830270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:26830270C>T	ENST00000215906.5	+	2	1127	c.689C>T	c.(688-690)aCc>aTc	p.T230I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	230					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGTGGTTCACCTTTTACTTG	0.537000													13	68					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414531	105414531	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414531G>A	ENST00000333244.5	-	7	7376	c.7257C>T	c.(7255-7257)ccC>ccT	p.P2419P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTATCTGGGGGCCCTTGA	0.637000													61	272					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972502	91972502	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91972502C>T	ENST00000265742.3	+	6	1328	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	318							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTCACCTCCCCAGATGAAAT	0.448000													10	27					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4697574	4697574	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4697574C>T	ENST00000262960.9	-	11	1441	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	DPP9_ENST00000598800.1_Silent_p.R359R|DPP9_ENST00000594671.1_Silent_p.R359R|DPP9_ENST00000597849.1_Silent_p.R388R	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	359					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATTTGCCATCCCGGGTCCACC	0.632000													6	24					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101906410	101906410	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101906410C>T	ENST00000348070.1	-	14	1845	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	PCSK6_ENST00000344273.2_Missense_Mutation_p.E616K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E616K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.E616K|PCSK6_ENST00000331826.7_Missense_Mutation_p.E451K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	617	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTTGCTTCTCCGGGTTGCGG	0.488000													8	18					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279194	74279194	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:74279194G>A	ENST00000295897.4	+	8	990	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.E151K|ALB_ENST00000401494.3_Missense_Mutation_p.E186K|ALB_ENST00000415165.2_Missense_Mutation_p.E109K|ALB_ENST00000509063.1_Missense_Mutation_p.E301K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	301	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TAAACTGAAGGAATGCTGTGA	0.408000													19	54					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428229	10428229	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10428229C>T	ENST00000293677.6	-	13	2253	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	CTD-2369P2.12_ENST00000586529.1_Silent_p.S125S	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGGGCTCGGGCGAGGGCAGCA	0.701000													14	28					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306655	205306655	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205306655G>A	ENST00000367156.3	-	9	1741	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.L175F|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.L196F|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.L309F|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.L309F	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	309										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGCAGGGAGGATCTCCCAT	0.572000													30	121					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62630979	62630979	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62630979T>A	ENST00000535781.1	+	8	1001	c.890T>A	c.(889-891)cTc>cAc	p.L297H	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	297					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCGCGACTGCTCCTCAAGTCT	0.592000													23	113					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100016640	100016640	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100016640C>T	ENST00000260702.3	-	9	1475	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	442	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTGGGACCCCGTTCACCTC	0.647000													13	43					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88938665	88938665	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938665G>A	ENST00000556564.1	-	15	3078	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S	PTPN21_ENST00000328736.3_Missense_Mutation_p.P932S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	932	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCATAAGGAAGAACATCT	0.408000													8	62					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487082	125487082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125487082G>A	ENST00000259466.1	+	1	814	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGTGATGAAGGGCCGGGTAGC	0.468000													28	52					0	0	1	0	0
RPAIN	84268	broad.mit.edu	37	17	5323605	5323605	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5323605C>T	ENST00000381209.3	+	1	645	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RPAIN_ENST00000536255.2_Silent_p.F25F|RPAIN_ENST00000405578.4_Silent_p.F25F|RPAIN_ENST00000381208.5_Silent_p.F25F|RPAIN_ENST00000327154.6_Silent_p.F25F|RPAIN_ENST00000574003.1_Silent_p.F25F	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	25					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						AAGAGGCTTTCCGGCAGGTGG	0.632000													7	34					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381343	55381343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:55381343G>A	ENST00000398661.2	-	5	577	c.446C>T	c.(445-447)cCt>cTt	p.P149L	HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P119L|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	149							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTAAGGACAGGATAGCGAAC	0.338000													37	50					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331552	83331552	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83331552G>A	ENST00000261722.3	-	22	2877	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S	AP3B2_ENST00000535359.1_Silent_p.S909S|AP3B2_ENST00000535348.1_Silent_p.S858S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	890					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGTGCACGGACACCATGT	0.612000													25	8					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136681972	136681972	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136681972G>A	ENST00000264161.4	-	8	876	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DARS_ENST00000537273.1_Missense_Mutation_p.P121S	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	221					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATAATTTTAGGAGTTTGGATT	0.328000													3	31					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519167	129519167	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:129519167G>A	ENST00000276218.2	-	1	344	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	85						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CGGAGGAAGTGACAAATGCCA	0.567000													25	147					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031407	56031407	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56031407C>T	ENST00000309675.2	+	1	764	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCTCCTCCCATCTGCTCG	0.587000													21	120					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768437	31768437	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31768437C>T	ENST00000355459.2	+	1	46	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	11						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAACTTCTCCTCCCGCTCCT	0.537000													43	128					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8244401	8244401	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244401G>A	ENST00000339754.5	+	4	416	c.338G>A	c.(337-339)cGg>cAg	p.R113Q		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTCACAGATCGGGGAGATGCC	0.507000													6	28					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148909480	148909480	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148909480C>T	ENST00000262085.3	+	6	1088	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ZNF282_ENST00000479907.1_Missense_Mutation_p.S328F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	328					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACCTCTTGTCCCGGATTAAA	0.498000													10	26					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981710	61981710	+	Silent	SNP	G	G	A	rs61737042	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61981710G>A	ENST00000370263.4	-	5	1274	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	351					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCGTGGCACGATGTCCAGGA	0.632000													32	34					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95030486	95030486	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95030486G>A	ENST00000375643.3	-	14	1667	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	IARS_ENST00000443024.2_Silent_p.I467I|IARS_ENST00000447699.2_Silent_p.I357I|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	467					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCACAGTGGGATGGGGGTGC	0.463000													47	242					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80622390	80622390	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80622390C>T	ENST00000571995.1	-	2	316	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.R62Q	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTTCACCCGCCGCCCGTC	0.642000													31	111					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556101	29556101	+	Missense_Mutation	SNP	C	C	T	rs137936888		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556101C>T	ENST00000383640.2	+	1	419	c.380C>T	c.(379-381)cCc>cTc	p.P127L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	127					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTCTGCCAGCCCCTCCACTAT	0.582000													12	82					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453139	25453139	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25453139C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						AAGCTCAGGCCCTTCCTGGAG	0.617000													25	62					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444539	20444539	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444539A>G	ENST00000305051.5	+	1	937	c.862A>G	c.(862-864)Agt>Ggt	p.S288G		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCCTTCAGCAGTTACTCAGT	0.448000													23	75					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188840	98188840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:98188840C>T	ENST00000332650.5	+	1	517	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAAGAAACTCTGCATTCAGA	0.468000													20	107					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24433775	24433775	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24433775G>A	ENST00000355123.4	-	34	4574	c.4131C>T	c.(4129-4131)tcC>tcT	p.S1377S	ITSN2_ENST00000361999.3_Silent_p.S1350S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1377	DH.				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)					CCAGCTTTAGGGAGGAATGGT	0.597000													20	56					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483465	41483465	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:41483465G>A	ENST00000359345.1	-	2	3375	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	SLFNL1_ENST00000397197.2_Silent_p.L267L|SLFNL1_ENST00000439569.2_Silent_p.L267L|SLFNL1_ENST00000372611.1_Silent_p.L208L|SLFNL1_ENST00000372613.2_Silent_p.L267L|SLFNL1_ENST00000302946.8_Silent_p.L267L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	267							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCTGCACCAGGCCGCTGTCC	0.662000													5	31					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597293	47597293	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47597293G>A	ENST00000253048.5	-	4	463	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	142							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAAATCCGAGTCATCTGAGA	0.572000													47	53					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675148	21675148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:21675148G>A	ENST00000379499.2	-	1	1300	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	253										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGGGCCTGGATGATGAGGC	0.692000													8	6					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10989224	10989224	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10989224C>T	ENST00000324288.8	+	2	271	c.138C>T	c.(136-138)tgC>tgT	p.C46C	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.C46C	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	46					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCCCCTGTGCCTCTACCACT	0.582000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	26					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406422	39406422	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:39406422G>A	ENST00000378803.1	-	8	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	CDKL4_ENST00000395035.3_Missense_Mutation_p.S278F	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	278	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CAGGAGTTGGGAACAGGTTAA	0.433000													16	105					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43475211	43475211	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43475211G>A	ENST00000372441.1	-	5	1763	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	288																	GCACATCCAGGAGCTGCTGCC	0.637000													4	36					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153660716	153660716	+	Silent	SNP	C	C	T	rs142472086		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153660716C>T	ENST00000369762.2	+	4	529	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	156					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					GGGCCAGCCCCTTGCATGTGG	0.647000													3	27					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75892813	75892813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:75892813G>A	ENST00000322507.8	-	10	2153	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	COL12A1_ENST00000483888.2_Missense_Mutation_p.S615F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S615F|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	615	VWFA 2.				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						AAGGCAGATAGACTGTGTGAG	0.378000													16	54					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41082519	41082519	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41082519T>A	ENST00000324545.7	+	39	7248	c.6615T>A	c.(6613-6615)ttT>ttA	p.F2205L	USP9X_ENST00000378308.2_Missense_Mutation_p.F2205L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2205					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGCTACTTTTATGCTTGTGT	0.418000													33	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411359	126411359	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411359C>T	ENST00000394329.3	+	17	13395	c.13382C>T	c.(13381-13383)aCc>aTc	p.T4461I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2702I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	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						ACGGGAAGGACCTGTGAGATG	0.632000													17	57					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785910	130785910	+	RNA	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:130785910A>T	ENST00000325390.3	-	0	2957					NR_026758.1																						AGCCACAGATAGAAGTCATAG	0.507000													15	16					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12136911	12136911	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:12136911C>T	ENST00000566228.1	+	5	474	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCACATGCTCCTGGCCGACC	0.642000													5	21					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673329	75673329	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:75673329C>T	ENST00000395743.3	-	5	819	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	153	Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTTCTTCTTTCTTCTTTCTTT	0.353000													15	59					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590149	125590149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590149G>A	ENST00000504087.1	-	4	5320	c.4283C>T	c.(4282-4284)cCa>cTa	p.P1428L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1249L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTTTATAATGGTGTTTCCTT	0.378000													15	33					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177909754	177909754	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:177909754C>T	ENST00000308284.6	-	17	2207	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	706					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCTCCAGCTGCCTCCGAAGTT	0.557000													7	24					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3458635	3458635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3458635C>T	ENST00000268655.4	+	3	1525	c.940C>T	c.(940-942)Ctt>Ttt	p.L314F	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.L314F	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	314					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTTGCAACATCTTGGTCACCA	0.493000													17	68					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190723	153190723	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:153190723A>G	ENST00000285900.5	+	16	3002	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V	GRIA1_ENST00000448073.4_Missense_Mutation_p.M897V|GRIA1_ENST00000518783.1_Missense_Mutation_p.M897V|GRIA1_ENST00000340592.5_Missense_Mutation_p.M887V|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818V|GRIA1_ENST00000518142.1_Missense_Mutation_p.M807V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCCAAGTCCATGCAATCGAT	0.622000													24	20					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182645	112182645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182645C>T	ENST00000455480.2	+	14	2183	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S638F|ACAD10_ENST00000392636.2_Missense_Mutation_p.S240F|ACAD10_ENST00000313698.4_Missense_Mutation_p.S638F	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	638							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						AGTTATAGCTCCGTTCCAGAA	0.562000													15	64					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21744165	21744165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21744165G>A	ENST00000328843.6	+	39	6439	c.6408G>A	c.(6406-6408)agG>agA	p.R2136R	DNAH11_ENST00000409508.3_Silent_p.R2129R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2136					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						TGCCCCGGAGGAGGAAGCTGC	0.522000									Kartagener syndrome				7	52					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133335	51133335	+	Silent	SNP	G	G	A	rs144661464	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133335G>A	ENST00000338916.4	-	3	1401	c.768C>T	c.(766-768)ccC>ccT	p.P256P	SYT3_ENST00000593901.1_Silent_p.P256P|SYT3_ENST00000544769.1_Silent_p.P256P|SYT3_ENST00000600079.1_Silent_p.P256P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	256						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCAGGCAGGGGTAAGGGCA	0.677000													10	53					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907425	37907425	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37907425C>T	ENST00000199447.4	+	11	1115	c.743C>T	c.(742-744)cCt>cTt	p.P248L	NME8_ENST00000440017.1_Missense_Mutation_p.P248L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	248	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GACACCGAACCTAACGAACGA	0.438000													12	31					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305752	32305752	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:32305752C>A	ENST00000357033.4	-	43	6390	c.6184G>T	c.(6184-6186)Gca>Tca	p.A2062S	DMD_ENST00000378677.2_Missense_Mutation_p.A2058S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2062					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTGCAATGCTGCTGTCTTC	0.368000													10	27					1.08611e-07	1.1053e-07	1	1	0
CD248	57124	broad.mit.edu	37	11	66082791	66082791	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66082791G>A	ENST00000311330.3	-	1	1724	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	570	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGGGCATCTGGGGCTTGAGGG	0.637000													53	92					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254989	51254989	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:51254989C>T	ENST00000404971.1	-	2	1762	c.423G>A	c.(421-423)aaG>aaA	p.K141K	NRXN1_ENST00000406316.2_Silent_p.K141K|NRXN1_ENST00000405472.3_Silent_p.K141K|NRXN1_ENST00000405581.1_Silent_p.K141K|NRXN1_ENST00000402717.3_Silent_p.K141K|NRXN1_ENST00000401669.2_Silent_p.K141K|NRXN1_ENST00000406859.3_Silent_p.K141K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	141	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGCTTGGACTTGACCTCCA	0.677000													4	34					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624018	92624018	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:92624018G>A	ENST00000298047.6	+	27	13526	c.13509G>A	c.(13507-13509)acG>acA	p.T4503T	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Silent_p.T806T|FAT3_ENST00000525166.1_Silent_p.T4353T|FAT3_ENST00000409404.2_Silent_p.T4471T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4503	Pro-rich.				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)				CCAACGAAACGGATTTGGTGG	0.582000										TCGA Ovarian(4;0.039)			15	32					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497235	34497235	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:34497235G>A	ENST00000538621.1	+	5	763	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PACSIN1_ENST00000244458.2_Missense_Mutation_p.R173Q|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.R131Q	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	173					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCCATGACACGGGAGATGAAC	0.537000													8	44					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40758754	40758754	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40758754G>A	ENST00000298910.7	+	49	7350	c.7292G>A	c.(7291-7293)gGa>gAa	p.G2431E		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2431					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAACTGGAGGAGGCCATATT	0.408000											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	74					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8161418	8161418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8161418C>T	ENST00000314666.6	+	11	1370	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	413					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTCCAGCTCCCAGACGGCCA	0.622000													17	46					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71488753	71488753	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:71488753C>T	ENST00000395275.2	-	5	778	c.388_splice	c.e5-1	p.G130_splice	CALN1_ENST00000412588.1_Splice_Site_p.G130_splice|CALN1_ENST00000405452.2_Splice_Site_p.G88_splice|CALN1_ENST00000395276.2_Splice_Site_p.G88_splice|CALN1_ENST00000329008.5_Splice_Site_p.G88_splice|CALN1_ENST00000431984.1_Splice_Site_p.G88_splice	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	88						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCTGGCCATCCCCTGCAAGGA	0.458000													13	106					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457507	1457507	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1457507G>A	ENST00000345913.4	+	6	615	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TPO_ENST00000382201.3_Missense_Mutation_p.R175Q|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.R175Q|TPO_ENST00000346956.3_Missense_Mutation_p.R175Q|TPO_ENST00000337415.3_Missense_Mutation_p.R175Q|TPO_ENST00000329066.4_Missense_Mutation_p.R175Q|TPO_ENST00000382198.1_Missense_Mutation_p.R175Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	175					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)	GCCCTGGCACGATGGCTCCCT	0.602000													38	104					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696260	60696260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60696260C>T	ENST00000005286.4	+	4	847	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	TMEM132A_ENST00000453848.2_Missense_Mutation_p.L232F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	232						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGAGCAGGCCCTCCCAGTGGG	0.697000													6	17					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221393	55221393	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55221393G>A	ENST00000413439.1	+	0	1173																											GTGGCCCCTGGGGAGAATCTG	0.622000													18	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594214	179594214	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179594214C>T	ENST00000589042.1	-	64	18893	c.18669G>A	c.(18667-18669)acG>acA	p.T6223T	TTN_ENST00000591111.1_Silent_p.T5906T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T4979T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5906	Ig-like 43.						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)			GAGGTGTTCCCGTAACTTCAC	0.448000													16	101					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807134	152807134	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152807134G>T	ENST00000370186.1	+	4	740	c.414G>T	c.(412-414)ggG>ggT	p.G138G	ATP2B3_ENST00000263519.4_Silent_p.G138G|ATP2B3_ENST00000370181.2_Silent_p.G138G|ATP2B3_ENST00000359149.3_Silent_p.G138G|ATP2B3_ENST00000393842.1_Silent_p.G138G|ATP2B3_ENST00000349466.2_Silent_p.G138G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	138					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617000													49	19					1.83081e-24	1.90689e-24	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326902	57326902	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57326902C>T	ENST00000326441.9	-	10	3271	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	PEG3_ENST00000598410.1_Missense_Mutation_p.E846K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E844K|PEG3_ENST00000423103.2_Missense_Mutation_p.E970K|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	970					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTGACATTCATAGAGCATC	0.458000													54	150					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723787	140723787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140723787G>A	ENST00000253812.6	+	1	187	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.607000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	146					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262941	144262941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:144262941C>T	ENST00000360537.2	-	5	2925	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PLAGL1_ENST00000437412.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E338K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E338K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	338					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GACTGAGGCTCTTGCAGAGGC	0.483000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	62					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417131	20417131	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417131C>T	ENST00000375108.3	+	5	631	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	121					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCAAGAGAAACCTACGGAGCT	0.542000													24	76					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682395	69682395	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682395G>T	ENST00000265403.7	+	1	685	c.658G>T	c.(658-660)Gac>Tac	p.D220Y	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	220					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCTTTATTTTGACTTTTGGTT	0.308000													14	65					1.05317e-09	1.07542e-09	1	1	0
MICALL1	85377	broad.mit.edu	37	22	38318042	38318042	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38318042C>A	ENST00000215957.6	+	6	759	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	211	LIM zinc-binding.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGAGGGCACCTTTGTGTGTG	0.657000													32	40					4.3181e-19	4.48373e-19	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38743591	38743591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38743591G>A	ENST00000449082.2	-	26	4395	c.4396C>T	c.(4396-4398)Cag>Tag	p.Q1466*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1466					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAAAACCCTGGAACTTGTTC	0.463000													7	30					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267805	125267805	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125267805G>T	ENST00000298282.9	+	7	706	c.435G>T	c.(433-435)ctG>ctT	p.L145L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.L81L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	145						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAATCCACCTGCTGGAGCTGG	0.532000													8	74					0.000157383	0.000158969	1	1	0
LFNG	3955	broad.mit.edu	37	7	2559921	2559921	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2559921G>A	ENST00000222725.5	+	1	446	c.426G>A	c.(424-426)aaG>aaA	p.K142K	LFNG_ENST00000359574.3_Silent_p.K142K|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	142					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGCGCCACAAGGAGATGGTGA	0.682000													12	43					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15705498	15705498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:15705498G>A	ENST00000396368.3	-	18	3774	c.3568C>T	c.(3568-3570)Cag>Tag	p.Q1190*	KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q792*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q1187*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q1187*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q1025*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q1190*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1189						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTGCTGGCCTGGGATTTGAGA	0.423000													14	59					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520411	40520411	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520411C>T	ENST00000347077.4	+	7	1450	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.P386S	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAAAAACCCTACGAATG	0.383000													19	27					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32776527	32776527	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32776527A>G	ENST00000380250.3	+	31	4377	c.3881A>G	c.(3880-3882)aAa>aGa	p.K1294R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACTCAAAGAAAGTCGCTGAG	0.443000													17	87					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577717	90577717	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90577717C>T	ENST00000551025.1	+	0	6145							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.S1568fs*1(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACATCTTTGCCCAGACATGG	0.388000													45	167					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60987714	60987714	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:60987714C>T	ENST00000252998.1	-	13	1998	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GCTTCCTCTTCCGTGGTGGAC	0.701000													12	102					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669144	48669144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48669144G>A	ENST00000352832.5	+	12	3056	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	CACNA1G_ENST00000514079.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R895Q	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	895					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTGAGCGGGATGGGGAC	0.602000													10	37					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421792	124421792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124421792G>A	ENST00000545135.1	-	3	4054	c.758C>T	c.(757-759)tCc>tTc	p.S253F	CCDC92_ENST00000238156.3_Missense_Mutation_p.S270F|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S253F			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	270			A -> T (in dbSNP:rs35935939).							large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCGGTCGGAGGCGATGGG	0.692000													7	52					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906536	48906536	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48906536G>A	ENST00000394754.1	+	11	3618	c.3504G>A	c.(3502-3504)ggG>ggA	p.G1168G	STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G1168G|GTF2A1L_ENST00000403751.3_Silent_p.G464G|GTF2A1L_ENST00000430487.2_Silent_p.G430G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G1168G|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G1121G	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1121					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTTGGAGGGAGAGACTATG	0.348000													18	74					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263918	140263918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263918C>T	ENST00000289272.2	+	1	2065	c.2065C>T	c.(2065-2067)Cca>Tca	p.P689S	PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P689S|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGGTCCAGAAGCGGC	0.637000													19	60					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540214	169540214	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:169540214G>A	ENST00000340806.6	+	1	505	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	169										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CAAGCTGAGGGAGATCTACCT	0.493000													9	54					0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77627083	77627083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:77627083G>A	ENST00000370812.3	-	8	733	c.710C>T	c.(709-711)cCt>cTt	p.P237L	PIGK_ENST00000359130.1_Missense_Mutation_p.P237L|PIGK_ENST00000445065.1_Missense_Mutation_p.P143L|PIGK_ENST00000370813.5_Missense_Mutation_p.P161L|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	237					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGCAGGATCAGGTTGATGCTA	0.313000													8	25					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366402	128366402	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:128366402C>T	ENST00000389524.4	+	22	2816	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	MYO7B_ENST00000428314.1_Silent_p.F921F|MYO7B_ENST00000409816.2_Silent_p.F921F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	921						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTTCGGCTTCCTCCCTGCCA	0.627000													16	11					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49436470	49436470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49436470C>T	ENST00000388901.5	-	3	273	c.200G>A	c.(199-201)tGg>tAg	p.W67*	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Nonsense_Mutation_p.W67*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	67					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289000													31	63					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56297047G>A	ENST00000443188.1	-	12	3756	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373000													24	99					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021299	73021299	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021299C>T	ENST00000263674.3	+	1	1966	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACTTGACAGCCACTCTGCGG	0.637000													12	42					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78332094	78332094	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78332094C>T	ENST00000582970.1	+	37	11012	c.10869C>T	c.(10867-10869)acC>acT	p.T3623T	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.T3672T|RNF213_ENST00000336301.6_Silent_p.T1696T|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGCACACCCTCTGGAAGC	0.542000													12	41					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764653	109764653	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:109764653C>T	ENST00000602699.1	+	0	1114					NR_002718.2																						GCCTGCCCTCCCTCCTTCTAC	0.557000													47	91					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170088966	170088966	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170088966G>A	ENST00000333572.6	-	2	655	c.136C>T	c.(136-138)Cct>Tct	p.P46S	WDR27_ENST00000448612.1_Missense_Mutation_p.P46S|WDR27_ENST00000423258.1_Missense_Mutation_p.P46S|WDR27_ENST00000420344.2_Missense_Mutation_p.P46S			A2RRH5	WDR27_HUMAN	WD repeat domain 27	46										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCATCCAAAGGGAAAGCACAG	0.433000													21	106					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58499607	58499607	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58499607A>C	ENST00000341164.4	-	6	988	c.368T>G	c.(367-369)gTg>gGg	p.V123G	ZNF606_ENST00000536132.1_Missense_Mutation_p.V33G	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGCCTGCTCCACTGACCACGG	0.522000													10	65					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821298	151821298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:151821298C>T	ENST00000370306.2	+	9	1473	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	485						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AATCCGCAACCGTGTCGAAGC	0.557000													24	162					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131114	147131114	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:147131114G>A	ENST00000369238.5	-	4	967	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	ACP6_ENST00000392988.2_Missense_Mutation_p.R174C	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	174					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACAACGGGTGGACTCC	0.423000													24	112					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112108061	112108061	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:112108061C>T	ENST00000403825.3	+	9	1193	c.932C>T	c.(931-933)tCc>tTc	p.S311F	IFRD1_ENST00000005558.4_Missense_Mutation_p.S311F|IFRD1_ENST00000535603.1_Missense_Mutation_p.S261F	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	311					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GACATGGAGTCCTTGACGCAG	0.408000													7	51					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55758261	55758261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55758261C>A	ENST00000412770.2	-	2	777	c.211G>T	c.(211-213)Gag>Tag	p.E71*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E71*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	71	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CGCAGCCGCTCCTCACCGCTA	0.607000													4	25					0.150653	0.151212	1	1	0
PHF20	51230	broad.mit.edu	37	20	34487531	34487531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34487531G>A	ENST00000374012.3	+	10	1651	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCCCAGCCAGGAGACCCTGAC	0.537000													26	62					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383559	48383559	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48383559G>A	ENST00000380518.3	-	17	1217	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	COL2A1_ENST00000337299.6_Silent_p.G282G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	351	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)	GCCCTGCGGGGCCTGGCTGAC	0.597000													29	76					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878802	89878802	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:89878802G>A	ENST00000345097.4	-	2	135	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	FOXN3_ENST00000557258.1_Missense_Mutation_p.P7S|FOXN3_ENST00000261302.5_Missense_Mutation_p.P7S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P7S|RP11-33N16.3_ENST00000555070.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	7					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCTTACTGGGAGGCATGACT	0.512000													11	65					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650779	55650779	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:55650779G>A	ENST00000339140.3	+	1	947	c.635G>A	c.(634-636)gGc>gAc	p.G212D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	212					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCCACTGTGGCCTCAGTGTG	0.493000													37	59					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834437	125834437	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834437C>T	ENST00000299308.3	+	2	500	c.492C>T	c.(490-492)ttC>ttT	p.F164F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	164						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTTTGCTTTCCCTGAGGCCA	0.587000													32	129					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710646	34710646	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34710646G>A	ENST00000544216.3	+	8	1077	c.1000G>A	c.(1000-1002)Ggt>Agt	p.G334S	LSM14A_ENST00000540746.2_Missense_Mutation_p.G293S|LSM14A_ENST00000433627.5_Missense_Mutation_p.G334S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	334					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCCTGTAAATGGTGAAGATAA	0.358000													9	20					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100514651	100514651	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:100514651C>T	ENST00000268070.4	-	22	3349	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1082	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCATAGAAGTCCCTGCAGGTC	0.587000													8	55					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79477846	79477846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477846G>A	ENST00000575842.1	-	5	1424	c.998C>T	c.(997-999)cCa>cTa	p.P333L	ACTG1_ENST00000575087.1_Missense_Mutation_p.P333L|ACTG1_ENST00000331925.2_Missense_Mutation_p.P333L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P333L			P63261	ACTG_HUMAN	actin, gamma 1	333					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTGCGCTCTGGGGGTGCGAT	0.632000													47	49					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56691959	56691959	+	Missense_Mutation	SNP	G	G	A	rs149853638		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56691959G>A	ENST00000357330.2	+	3	174	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	GALP_ENST00000590002.1_Intron|GALP_ENST00000440823.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607000													19	44					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427862	119427862	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427862G>A	ENST00000369429.3	-	8	1311	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	TBX15_ENST00000207157.3_Silent_p.P328P			Q96SF7	TBX15_HUMAN	T-box 15	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGTTTCAGAGGGCTGAGTGG	0.572000													10	32					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25498400	25498400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25498400G>A	ENST00000278886.6	-	3	339	c.266C>T	c.(265-267)tCt>tTt	p.S89F	NINL_ENST00000422516.1_Missense_Mutation_p.S89F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	89					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATTCCAAAGAACTACTGTC	0.378000													18	40					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234385	45234385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45234385G>A	ENST00000066544.3	-	7	829	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CDC27_ENST00000446365.2_Missense_Mutation_p.P185S|CDC27_ENST00000531206.1_Missense_Mutation_p.P246S|CDC27_ENST00000527547.1_Missense_Mutation_p.P246S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTCCCAGTGGGACAGTATCA	0.363000													7	72					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391088	23391088	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:23391088C>T	ENST00000258729.3	-	6	875	c.519G>A	c.(517-519)ggG>ggA	p.G173G	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	173					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCTGCCCAAGCCCCCGGCGAC	0.557000													14	49					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130413126	130413126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130413126C>T	ENST00000370904.1	-	17	2624	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E586K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E581K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E572K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	581					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGTCTCTTCTATCAATACC	0.582000													81	103					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832560	49832560	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:49832560G>A	ENST00000396822.1	-	3	877	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	SNAI2_ENST00000020945.1_Silent_p.L174L			O43623	SNAI2_HUMAN	snail family zinc finger 2	174					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCATCTTCAGGGCGCCCAGG	0.488000													14	77					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293542	33293542	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:33293542C>T	ENST00000280979.4	+	13	6693	c.6523C>T	c.(6523-6525)Cct>Tct	p.P2175S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2175					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTAGTGCTCCTCCAAATGA	0.468000													7	36					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149598	203149598	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203149598C>T	ENST00000255409.3	-	8	1019	c.894_splice	c.e8+1	p.E298_splice		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	298					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ACTCCATTACCTCATAGTAGG	0.552000													10	37					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:6239847G>A	ENST00000400104.3	-	9	777	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	193					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468000													8	46					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222175	64222175	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:64222175G>A	ENST00000205948.6	-	3	346	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	103	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGATCGTGTTGGGATATTCAA	0.363000													27	28					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27307868	27307868	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307868G>A	ENST00000380320.4	+	6	3066	c.2567G>A	c.(2566-2568)gGt>gAt	p.G856D		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	856	Collagen-like.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCAAGGTGAACAGGGT	0.542000													36	105					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184071990	184071990	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184071990C>T	ENST00000265593.4	-	15	1791	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	CLCN2_ENST00000344937.7_Silent_p.L523L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.L496L|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.L540L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	540						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGCGTTGGCCAGGATGACGG	0.612000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	33					0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35595980	35595980	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:35595980C>T	ENST00000557565.1	+	3	1407	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	KIAA0391_ENST00000603544.1_Intron|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000604948.1_Silent_p.V247V|KIAA0391_ENST00000534898.4_Silent_p.V342V|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Intron|KIAA0391_ENST00000250377.7_Silent_p.V247V			O15091	MRRP3_HUMAN	KIAA0391	342					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCACCACAGTCCGAAAAAGGT	0.318000													4	27					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785402	111785402	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111785402G>A	ENST00000261726.6	+	22	3888	c.3734G>A	c.(3733-3735)gGa>gAa	p.G1245E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGGTCCTGGAATCCTACCG	0.652000													12	92					0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92709803G>A	ENST00000370373.2	+	5	477	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C1orf146_ENST00000370375.3_Missense_Mutation_p.E64K			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	64								p.E64K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299000													13	35					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9224870	9224870	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:9224870G>A	ENST00000382496.5	-	8	1227	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	188	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACGTCCTGGAAAATCCATG	0.562000													9	33					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235533	8235533	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8235533G>A	ENST00000520004.1	-	3	650	c.386C>T	c.(385-387)cCc>cTc	p.P129L	SGK223_ENST00000330777.4_Missense_Mutation_p.P129L			Q86YV5	SG223_HUMAN		129							ATP binding|non-membrane spanning protein tyrosine kinase activity										GTAGACGACGGGGGCATCCTC	0.572000													27	77					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046905	80046905	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80046905G>A	ENST00000306749.2	-	14	2462	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	748	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGTGCCACAGGGCCTCCTGGA	0.697000													9	9					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170069	41170069	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41170069C>T	ENST00000355653.3	-	3	845	c.750G>A	c.(748-750)aaG>aaA	p.K250K	VAT1_ENST00000420567.3_Silent_p.K116K|VAT1_ENST00000587173.1_Silent_p.K182K	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	250						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAAATCTTCTTGATCTCAT	0.547000													23	73					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053761	95053761	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95053761G>A	ENST00000329597.7	+	3	272	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCCCTTCACCGCCACCACCCC	0.587000													20	111					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099247	50099247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50099247C>T	ENST00000418929.2	+	4	1667	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	325	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGACCCAGCTCCCTGGGAGGC	0.711000													5	57					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995339	32995339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:32995339C>T	ENST00000330953.5	+	2	593	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	142					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATTGTGCACGCGGTGTTTTCC	0.488000													40	126					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846439	55846439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55846439G>A	ENST00000322678.1	+	1	442	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGCTGTTGGGTGGCTGGCTT	0.473000													54	92					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43832321	43832321	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43832321C>G	ENST00000402924.1	+	6	425	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	BLVRA_ENST00000265523.4_Missense_Mutation_p.L88V	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	88					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	AAGGCAGTTCCTTAATGCTGG	0.453000													12	27					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784991	62784991	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784991C>T	ENST00000280377.5	+	16	2073	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	USP15_ENST00000393654.3_Missense_Mutation_p.P647L|USP15_ENST00000353364.3_Missense_Mutation_p.P643L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAAGAACTTCCCTCAGAGAAT	0.373000													7	49					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869086	39869086	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39869086G>T	ENST00000538976.1	+	24	2999	c.2817G>T	c.(2815-2817)aaG>aaT	p.K939N	DAAM2_ENST00000398904.2_Missense_Mutation_p.K940N|DAAM2_ENST00000274867.4_Missense_Mutation_p.K940N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTCGCCAAGGCCTTGATGC	0.572000													44	155					2.52991e-16	2.61891e-16	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121033	38121033	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121033C>T	ENST00000406386.3	+	7	2725	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	824					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACAGAACATCCCCAGATCATC	0.522000													18	72					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73604022	73604022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73604022C>T	ENST00000265753.8	+	3	406	c.267C>T	c.(265-267)ttC>ttT	p.F89F	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Silent_p.F89F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	89	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						ATGTAGAATTCGATGAAGTGG	0.408000													8	44					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527914	150527914	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150527914C>T	ENST00000271643.4	+	8	1480	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S415F|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S438F|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S415F	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	415					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCAGGGCTCCCAGCGCTGT	0.627000													9	7					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50285056	50285056	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50285056G>A	ENST00000261667.3	-	11	1288	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	292					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGGCTCAGAAGGGGCACAAGA	0.378000													12	38					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543596	28543596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:28543596C>T	ENST00000452236.2	-	3	1503	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	296					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGTATTTTATCTGTTTCCCCA	0.408000													27	150					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207527	121207527	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121207527G>A	ENST00000264233.5	-	16	4379	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1417					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGAGAATGGAAAATCGGGC	0.343000								DNA polymerases (catalytic subunits)					12	62					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628073	128628073	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128628073C>T	ENST00000429175.2	+	2	346	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000534087.1_5'UTR|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000527767.2_3'UTR	NM_002017.3	NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	28					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCGGCAGCCCATCTCCCCAA	0.622000			T	EWSR1	Ewing sarcoma								3	12					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36353414	36353414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36353414G>A	ENST00000360202.5	+	12	1728	c.1530G>A	c.(1528-1530)cgG>cgA	p.R510R	KIRREL2_ENST00000586102.2_Silent_p.R490R|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.R460R|KIRREL2_ENST00000262625.7_Silent_p.R510R|KIRREL2_ENST00000592409.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	510					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACTGTGCGGATAGTGGCCG	0.627000													30	131					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59270358	59270358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:59270358G>A	ENST00000320743.3	-	16	2850	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L	LRIG3_ENST00000379141.4_Missense_Mutation_p.P795L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	855						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATAACTAGGAATATCTGC	0.458000			T	ROS1	NSCLC								9	37					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	37014993	37014993	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37014993C>T	ENST00000358127.4	-	3	485		c.e3+1		PAX5_ENST00000523145.1_Splice_Site|PAX5_ENST00000520281.1_Splice_Site|PAX5_ENST00000377853.2_Splice_Site|PAX5_ENST00000520154.1_Splice_Site|PAX5_ENST00000523241.1_Splice_Site|PAX5_ENST00000377847.2_Splice_Site|PAX5_ENST00000414447.1_Splice_Site|PAX5_ENST00000377852.2_Splice_Site|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Splice_Site	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5						cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(39)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAGCCCCTCACCTGTTGATGG	0.577000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								34	172					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208865	65208865	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65208865C>T	ENST00000247226.7	+	14	2770	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P382L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P410L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P877L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCGCAGCCCGGCCCACCTG	0.672000													12	40					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016673	2016673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2016673G>A	ENST00000382722.5	-	6	1076	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CACNA2D4_ENST00000585732.1_Silent_p.F238F|CACNA2D4_ENST00000588077.1_Silent_p.F174F|CACNA2D4_ENST00000585708.1_Silent_p.F174F|CACNA2D4_ENST00000587995.1_Silent_p.F238F|CACNA2D4_ENST00000586184.1_Silent_p.F238F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	238						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTCTCTCTGGAAGTTCTCCA	0.453000													4	23					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953612	186953612	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:186953612G>A	ENST00000296280.6	-	11	2272	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.L570L	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	665	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGACACCAGGCCTTGCACC	0.582000													17	24					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49310269	49310269	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310269G>A	ENST00000316273.6	-	2	99	c.87C>T	c.(85-87)tcC>tcT	p.S29S	BCAT2_ENST00000601496.1_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000598162.1_Silent_p.S29S	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	29						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGAAACTGGAGGAGGCATATC	0.562000													6	48					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93527665	93527665	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527665G>A	ENST00000394196.4	+	25	4240	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CHD2_ENST00000557381.1_Missense_Mutation_p.E1058K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1058	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTAGAGGAGGAAGAGCGGCA	0.413000													25	7					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128638162	128638162	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128638162C>T	ENST00000344954.6	+	3	669	c.281C>T	c.(280-282)cCc>cTc	p.P94L	FLI1_ENST00000429175.2_Missense_Mutation_p.P127L|FLI1_ENST00000281428.8_Missense_Mutation_p.P61L|FLI1_ENST00000534087.1_Missense_Mutation_p.P94L|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000527767.2_3'UTR			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	127					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTCATCGTCCCCGCAGGTAAT	0.557000			T	EWSR1	Ewing sarcoma								6	28					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183756374G>A	ENST00000382489.3	+	7	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E|HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000													3	20					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805102	44805102	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44805102C>T	ENST00000309315.4	+	16	2289	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	ZMIZ2_ENST00000433667.1_Silent_p.A690A|ZMIZ2_ENST00000413916.1_Silent_p.A664A|ZMIZ2_ENST00000441627.1_Silent_p.A722A|ZMIZ2_ENST00000265346.7_Silent_p.A696A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	722					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATCGCCGCCCTGGGCCCCG	0.692000													10	22					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463938	66463938	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66463938C>T	ENST00000533211.1	-	21	4419	c.4088G>A	c.(4087-4089)aGg>aAg	p.R1363K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1363K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1363K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1363					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCCAGCGCCTGTGCAGGTC	0.602000													21	137					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151316355C>T	ENST00000290524.4	-	9	737	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RFX5_ENST00000368870.2_Missense_Mutation_p.E187K|RFX5_ENST00000452671.2_Missense_Mutation_p.E187K|RFX5_ENST00000452513.2_Missense_Mutation_p.E147K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532000													10	41					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:156533648G>A	ENST00000307851.4	-	2	1114	c.384C>T	c.(382-384)gtC>gtT	p.V128V	HAVCR2_ENST00000522593.1_Silent_p.V128V|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	128						integral to membrane		p.V128V(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403000													17	47					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120888	47120888	+	Missense_Mutation	SNP	G	G	A	rs146301674		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:47120888G>A	ENST00000298283.3	-	1	140	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	18					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGAGATTTTGGGTACGGCTTG	0.547000													42	87					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47650568	47650568	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47650568G>A	ENST00000302503.3	-	9	727	c.570C>T	c.(568-570)atC>atT	p.I190I	MTCH2_ENST00000542981.1_Silent_p.I42I|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	190					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ACAAAGAAAGGATGTCACCTA	0.453000													9	21					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42192957	42192957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42192957G>A	ENST00000220325.4	-	6	1595	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	504	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGCCAGCGCGAACTCCTCCT	0.637000													11	38					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749631	142749631	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142749631C>T	ENST00000418316.1	+	1	215	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCAATTTTTCCCTGCTGGAG	0.493000													105	176					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487017	20487017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20487017C>T	ENST00000573854.1	+	8	1134	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	ACSM2A_ENST00000396104.2_Silent_p.S340S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.S112S|ACSM2A_ENST00000575690.1_Silent_p.S340S|ACSM2A_ENST00000417235.2_Silent_p.S261S|ACSM2A_ENST00000219054.6_Silent_p.S340S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	340					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAGGGGAGTCCCTTCTTCCAG	0.522000													36	199					0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365149	74365149	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74365149C>T	ENST00000290438.3	-	13	1475	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	479										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CTGGCAGCTTCTAGGTGCTCC	0.617000													18	102					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138473	42138473	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138473C>T	ENST00000382448.4	+	22	2375	c.2366C>T	c.(2365-2367)aCc>aTc	p.T789I	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.T558I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.T558I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		558					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGTTTTTCACCGATCTTCTG	0.537000													19	131					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48447184	48447184	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447184C>T	ENST00000358536.4	-	37	6519	c.6250G>A	c.(6250-6252)Gcg>Acg	p.A2084T	PLXNB1_ENST00000448774.2_Missense_Mutation_p.A695T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1901T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1901T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A2084T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2084					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTCGCGCCCCGAGGTCT	0.612000													9	25					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026182	43026182	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43026182G>A	ENST00000161559.6	-	3	731	c.597C>T	c.(595-597)acC>acT	p.T199T	CEACAM1_ENST00000599389.1_Silent_p.T199T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Silent_p.T199T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.T199T|CEACAM1_ENST00000358394.3_Silent_p.T199T|CEACAM1_ENST00000308072.4_Silent_p.T159T|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.T199T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	199	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTAGAGTGAGGGTCCTGTTGC	0.532000													35	203					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:67040642G>A	ENST00000315962.4	+	2	645	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TRIM55_ENST00000353317.5_Missense_Mutation_p.G91E|TRIM55_ENST00000350034.4_Missense_Mutation_p.G91E|TRIM55_ENST00000276573.7_Missense_Mutation_p.G91E	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	91						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAGACATGGGGTATATGGA	0.498000													26	150					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988934	31988934	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31988934G>T	ENST00000334664.2	+	1	185	c.161G>T	c.(160-162)gGt>gTt	p.G54V		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	54						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGGTCATATGGTTTCTACTGA	0.448000													26	61					4.7796e-09	4.87689e-09	1	1	0
POLR3G	10622	broad.mit.edu	37	5	89802421	89802421	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:89802421A>C	ENST00000399107.1	+	7	715	c.515A>C	c.(514-516)aAa>aCa	p.K172T	POLR3G_ENST00000504930.1_Missense_Mutation_p.K172T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	172	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gagaaaagtaaagaaggtgat	0.383000													10	42					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509168	22509168	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22509168G>A	ENST00000390448.3	+	0	175																											GAGACTCCAGGAGGGAGAGAG	0.478000													15	75					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107836218	107836218	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107836218G>A	ENST00000379028.3	-	15	1920	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	NRCAM_ENST00000425651.2_Missense_Mutation_p.P484S|NRCAM_ENST00000351718.4_Missense_Mutation_p.P478S|NRCAM_ENST00000413765.2_Missense_Mutation_p.P465S|NRCAM_ENST00000379022.4_Missense_Mutation_p.P484S|NRCAM_ENST00000379024.4_Missense_Mutation_p.P465S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	484	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCGATGGTTGGGAGAGGAGAC	0.423000													4	23					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131279	110131279	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110131279C>T	ENST00000518632.1	+	3	1143	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TRHR_ENST00000311762.2_Silent_p.V264V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	264						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTCCCTAGGTCACCAAGATGC	0.423000													100	220					0	0	1	0	0
LOC101927016	101927016	broad.mit.edu	37	13	64321144	64321144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:64321144G>A	ENST00000453638.2	+	1	211	c.211G>A	c.(211-213)Ggc>Agc	p.G71S																	endometrium(2)|lung(1)|urinary_tract(1)	4						ctacagctgtggctatggctc	0.562000													7	22					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581720	79581720	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581720G>A	ENST00000372391.2	-	15	2527	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	841					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTCTGCGTGGAGTTATTGTG	0.517000													61	55					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511036	169511036	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169511036G>A	ENST00000367796.3	-	13	3508	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	F5_ENST00000367797.3_Missense_Mutation_p.P1098S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1098	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTATGGTCAGGAAGTGAGGCT	0.458000													28	106					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46137675	46137675	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46137675C>T	ENST00000536630.1	-	7	813	c.675G>A	c.(673-675)ggG>ggA	p.G225G	EML2_ENST00000587152.1_Silent_p.G279G|EML2_ENST00000589876.1_Silent_p.G78G|EML2_ENST00000245925.3_Silent_p.G78G	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78					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)		ACACTATCTCCCCGGTGGGCA	0.557000													9	23					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018504	41018504	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41018504T>C	ENST00000399564.4	-	27	3152	c.2702A>G	c.(2701-2703)aAa>aGa	p.K901R	MROH2B_ENST00000506092.2_Missense_Mutation_p.K456R	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCCCACTCTTTTTGTGAAAC	0.353000													5	32					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010014	59010014	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010014C>T	ENST00000263093.2	-	10	2050	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	SLC27A5_ENST00000601355.1_Silent_p.R563R|SLC27A5_ENST00000594786.1_Silent_p.R52R|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	647					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACGCACCAACCGGGTCTTCA	0.592000													11	26					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955430	12955430	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12955430C>T	ENST00000235347.4	-	2	328	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	83										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAGTCCCCTCAGGACAG	0.607000													15	39					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174805	193174805	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:193174805A>T	ENST00000342695.4	-	16	2221	c.1899T>A	c.(1897-1899)ttT>ttA	p.F633L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F614L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	633					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGGTTGGCAAAAGCTGGCCA	0.453000													8	23					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113858410C>T	ENST00000383673.2	-	5	1090	c.660G>A	c.(658-660)cgG>cgA	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000460779.1_Silent_p.R220R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	220					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507000													63	115					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679949	3679949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3679949G>A	ENST00000344754.4	-	7	1685	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	SIGLEC1_ENST00000202578.4_Silent_p.L562L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	562	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCCGCGGGGAGCAGGAGGC	0.672000													3	23					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884780	24884780	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24884780C>T	ENST00000382554.3	+	9	4143	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1275					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGCCCTCCTCCAGGGCCTGC	0.632000													23	74					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24573698	24573698	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24573698C>T	ENST00000398319.2	+	36	6817	c.6432C>T	c.(6430-6432)ttC>ttT	p.F2144F	CABIN1_ENST00000405822.2_Silent_p.F2065F|CABIN1_ENST00000263119.5_Silent_p.F2144F|CABIN1_ENST00000337989.7_Silent_p.F514F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2144	Required for interaction with calcineurin (By similarity).				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCACCAAGTTCCCCCCTGAGA	0.657000													14	23					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262944	34262944	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34262944C>T	ENST00000262622.3	+	4	1009	c.251C>T	c.(250-252)cCg>cTg	p.P84L	CHST8_ENST00000438847.2_Missense_Mutation_p.P84L|CHST8_ENST00000434302.1_Missense_Mutation_p.P84L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGTGGGGCCCCGAGGGGCCGC	0.672000													7	38					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66002814	66002814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66002814G>A	ENST00000320580.4	+	18	2180	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	PACS1_ENST00000529757.1_Missense_Mutation_p.G252E	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TACGTCAACGGGGCAGCCACG	0.537000													26	59					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36644890	36644890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:36644890C>T	ENST00000399881.3	+	2	299	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	88						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)		GGGACAATTTCGTGATCATAT	0.428000													9	24					0	0	1	0	0
TRAV16	28667	broad.mit.edu	37	14	22459004	22459004	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22459004C>T	ENST00000390444.1	+	0	156																											GTCCTGAACTCTTCTGGTATG	0.512000													9	16					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173737	51173737	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:51173737G>A	ENST00000440970.1	-	2	2536	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P799L|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	799					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)			GTAGCTGTCGGGGACTGGGGT	0.502000													58	113					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133094	51133094	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133094G>A	ENST00000338916.4	-	3	1642	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	SYT3_ENST00000593901.1_Missense_Mutation_p.P337S|SYT3_ENST00000544769.1_Missense_Mutation_p.P337S|SYT3_ENST00000600079.1_Missense_Mutation_p.P337S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGACGTAGGGGTCTGAGAAG	0.612000													14	108					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502834	20502834	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20502834G>A	ENST00000315693.2	-	1	85	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAATCCCAAGAAGAATAAAA	0.403000													14	43					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538152	38538152	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38538152G>A	ENST00000399017.2	+	33	6383	c.3636G>A	c.(3634-3636)agG>agA	p.R1212R	TTC3_ENST00000355666.1_Silent_p.R1212R|TTC3_ENST00000354749.2_Silent_p.R1212R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1212					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCTGCTAGGGAATTTAAAC	0.363000													20	51					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016249	134016249	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016249G>T	ENST00000338492.4	+	12	1545	c.1381G>T	c.(1381-1383)Gtc>Ttc	p.V461F	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	461					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)		GAAGATGTTTGTCACCCCGGG	0.622000													26	47					7.38237e-10	7.54401e-10	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160033861	160033861	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:160033861G>A	ENST00000327245.5	-	19	3917	c.3071C>T	c.(3070-3072)tCc>tTc	p.S1024F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1024					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGGACGGACCGACAATA	0.507000													11	86					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070849	14070849	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070849C>T	ENST00000254337.6	+	10	1515	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TGCTCCTGGCCTTCCCGTCCC	0.657000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927501	176927501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176927501C>T	ENST00000367654.2	-	10	1753	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M572I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M572I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M572I|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	580					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCATCCTCCATCACAGTCA	0.537000													32	49					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73570315	73570315	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:73570315G>A	ENST00000224721.6	+	61	9086	c.9081G>A	c.(9079-9081)ctG>ctA	p.L3027L	CDH23_ENST00000398788.3_Silent_p.L782L|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3022					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCATCCTGGACGTGGACC	0.592000													20	19					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12198975	12198975	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:12198975C>T	ENST00000287814.4	-	2	657	c.147G>A	c.(145-147)cgG>cgA	p.R49R	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	49	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGATTTTGGCCCGAATCACTG	0.493000													14	36					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256561	84256561	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256561G>A	ENST00000308251.4	-	3	890	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGAACTCCAGGGAGAACCAGG	0.567000													3	26					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61574518	61574518	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61574518C>T	ENST00000290866.4	+	25	3736	c.3712C>T	c.(3712-3714)Cca>Tca	p.P1238S	ACE_ENST00000490216.2_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.P443S|ACE_ENST00000413513.3_Missense_Mutation_p.P623S|ACE_ENST00000290863.6_Missense_Mutation_p.P664S|ACE_ENST00000577647.1_Intron|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1238					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCCCTCCCAGACAGCGG	0.716000													7	20					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56033060	56033060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56033060G>A	ENST00000244728.5	-	6	1459	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	COL21A1_ENST00000370819.1_Silent_p.L354L|COL21A1_ENST00000535941.1_Silent_p.L354L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	354	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTTACTAAGAGACGAATTT	0.358000													4	14					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847382	29847382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29847382G>A	ENST00000400552.1	+	2	214	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	72					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348000													7	61					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862933	67862933	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:67862933G>A	ENST00000433211.1	-	14	2133	c.1959C>T	c.(1957-1959)acC>acT	p.T653T	CTNNA3_ENST00000373744.4_Silent_p.T653T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	653					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTTCCCTTCGGTCTGAATGC	0.488000													15	51					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51051874	51051874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51051874C>T	ENST00000599957.1	-	2	419	c.222G>A	c.(220-222)cgG>cgA	p.R74R	LRRC4B_ENST00000389201.3_Silent_p.R74R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	74	LRRNT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTCTCTCCGTGTGCAGA	0.706000													3	12					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73028232	73028232	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028232C>A	ENST00000268057.4	+	14	1214	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	BBS4_ENST00000395205.2_Silent_p.A399A|BBS4_ENST00000542334.1_Silent_p.A219A|BBS4_ENST00000539603.1_Silent_p.A379A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGAAGAACGCCCTGGCCCAAT	0.483000									Bardet-Biedl syndrome				30	149					5.45727e-16	5.63848e-16	1	1	0
PSG4	5672	broad.mit.edu	37	19	43709670	43709670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43709670G>A	ENST00000405312.3	-	1	256	c.19C>T	c.(19-21)Cct>Tct	p.P7S	PSG4_ENST00000433626.2_Missense_Mutation_p.P7S|PSG4_ENST00000244295.9_Missense_Mutation_p.P7S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	7					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.587000													6	32					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97681814	97681814	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:97681814A>C	ENST00000275053.4	-	12	1490	c.1225T>G	c.(1225-1227)Tgt>Ggt	p.C409G	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	409					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTGTCAAACAACAGTGAAGA	0.328000													27	87					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	C	A	rs147082398		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73814404C>A	ENST00000334126.7	-	14	2578	c.2352G>T	c.(2350-2352)acG>acT	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458000													3	85					1	1	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33217084	33217084	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33217084A>C	ENST00000396033.2	-	5	620	c.485T>G	c.(484-486)gTa>gGa	p.V162G	ITGB1_ENST00000302278.3_Missense_Mutation_p.V162G|ITGB1_ENST00000423113.1_Missense_Mutation_p.V162G|ITGB1_ENST00000374956.4_Missense_Mutation_p.V162G|ITGB1_ENST00000484088.1_Intron	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	162	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AAGACTTTTTACATTCTCCAA	0.363000													26	79					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833301	41833301	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41833301A>T	ENST00000327492.3	-	2	755	c.49T>A	c.(49-51)Tac>Aac	p.Y17N		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	17					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTTGTTGTACAAGTAGGAG	0.537000													16	78					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41191637	41191637	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41191637C>T	ENST00000220509.5	+	4	960	c.621C>T	c.(619-621)tcC>tcT	p.S207S	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	207					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612000													31	118					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105563586	105563586	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105563586C>T	ENST00000314641.5	-	7	1149	c.933G>A	c.(931-933)cgG>cgA	p.R311R	BVES_ENST00000446408.2_Silent_p.R311R|BVES_ENST00000336775.5_Silent_p.R311R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGGTACCCCGAAGAAACT	0.473000													16	76					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732821	179732821	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179732821G>A	ENST00000420890.2	-	16	2623	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	CCDC141_ENST00000295723.5_Missense_Mutation_p.R261C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	261	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTCTACACGGGCTTGCTTT	0.498000													43	41					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057647	27057647	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057647C>T	ENST00000324856.7	+	3	1726	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	ARID1A_ENST00000374152.2_Missense_Mutation_p.P69L|ARID1A_ENST00000457599.2_Missense_Mutation_p.P452L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACAGATTCCTCCTTATGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	125					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45708290	45708290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45708290G>A	ENST00000291582.5	+	5	728	c.601G>A	c.(601-603)Gga>Aga	p.G201R		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	201	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGACGTCCCGGGAGCCCGAGG	0.642000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				19	73					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437418	44437418	+	Missense_Mutation	SNP	C	C	T	rs139555604	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:44437418C>T	ENST00000255108.3	+	4	1016	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.R147C	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	282					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGAGATGCCCGCGTGGTAGG	0.622000													12	37					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41798814	41798814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:41798814G>A	ENST00000396930.3	-	16	3128	c.2585C>T	c.(2584-2586)cCa>cTa	p.P862L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P862L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P862L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	862					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCTCCGAGATGGCTGGCTATT	0.468000													17	96					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327611	57327611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327611C>G	ENST00000326441.9	-	10	2562	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	PEG3_ENST00000598410.1_Missense_Mutation_p.K609N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K607N|PEG3_ENST00000423103.2_Missense_Mutation_p.K733N|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	733					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGTATGACTCTTCTGAGATT	0.413000													63	93					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121451	38121451	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121451C>T	ENST00000406386.3	+	7	3143	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	963					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACCCCAGTCCTCCTTTGGC	0.637000													53	86					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59752317	59752317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59752317G>A	ENST00000288228.5	+	3	393	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	69										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CAAAACAAAGGGGGAGGTGAC	0.478000													26	125					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237837398	237837398	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237837398G>A	ENST00000366574.2	+	59	8910	c.8593G>A	c.(8593-8595)Gga>Aga	p.G2865R	RYR2_ENST00000360064.6_Missense_Mutation_p.G2863R|RYR2_ENST00000542537.1_Missense_Mutation_p.G2849R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2865	4 X approximate repeats.|Modulator (Potential).				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)			ACTCTTAGGAGGAGGAAACCA	0.408000													16	83					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30503326	30503326	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:30503326T>G	ENST00000392271.1	+	10	1610	c.1085T>G	c.(1084-1086)tTg>tGg	p.L362W	URI1_ENST00000542441.2_Missense_Mutation_p.L438W|URI1_ENST00000360605.4_Missense_Mutation_p.L420W|URI1_ENST00000312051.6_Missense_Mutation_p.L398W	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	438					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CGGGGAGTTTTGAGGAGTATC	0.453000													17	54					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19217372	19217372	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19217372G>A	ENST00000263200.10	-	11	1843	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	CLTCL1_ENST00000427926.1_Missense_Mutation_p.H591Y|CLTCL1_ENST00000353891.5_Missense_Mutation_p.H591Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	591	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGGGTGCATGAACAAGGTTC	0.512000			T	?	ALCL								4	11					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685402	20685402	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:20685402G>A	ENST00000404938.2	+	8	1354	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	420					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGACCAGTAAGGAATTAAGTG	0.403000													30	136					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406460	20406460	+	RNA	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:20406460C>A	ENST00000580113.1	-	0	606																											CCAGGTCAGTCCTGGCCAGGG	0.632000													18	23					1.2644e-06	1.28385e-06	1	1	0
TBC1D1	23216	broad.mit.edu	37	4	38126639	38126639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:38126639G>A	ENST00000261439.4	+	18	3374	c.3019G>A	c.(3019-3021)Gga>Aga	p.G1007R	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1007						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGTCTGTTGGGAAGCCATAA	0.393000													11	54					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53589185	53589185	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53589185C>T	ENST00000267082.5	-	9	1365	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	ITGB7_ENST00000550743.2_Silent_p.V378V|ITGB7_ENST00000422257.3_Silent_p.V378V|ITGB7_ENST00000338737.4_Silent_p.V378V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	378	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGCTGTACCACGTTGCTGG	0.552000													11	74					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986527	61986527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61986527G>A	ENST00000409186.1	-	5	3810	c.1705C>T	c.(1705-1707)Caa>Taa	p.Q569*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.Q569*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	542	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TATGAAACTTGGCCTCTCTCC	0.443000													19	83					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56535387	56535387	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56535387G>A	ENST00000423270.1	-	1	96	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	RFX7_ENST00000317318.6_Missense_Mutation_p.L33F|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	680					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCGGGCACAAGGGCTGGCAGG	0.637000													3	19					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84498353	84498353	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84498353G>A	ENST00000372142.2	+	4	585	c.311G>A	c.(310-312)gGa>gAa	p.G104E	NRG3_ENST00000404547.1_Missense_Mutation_p.G325E|NRG3_ENST00000404576.2_Missense_Mutation_p.G129E|NRG3_ENST00000372141.2_Missense_Mutation_p.G325E|NRG3_ENST00000556918.1_Missense_Mutation_p.G155E	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	325					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCTACCAAGGAGTCCGTTGT	0.393000													51	31					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37947224	37947224	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37947224C>T	ENST00000436072.2	-	6	1275	c.898G>A	c.(898-900)Gac>Aac	p.D300N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	300	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCTTCTTGTCCTGAACTGTT	0.493000													17	76					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136314957	136314957	+	Missense_Mutation	SNP	G	G	A	rs139951127		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136314957G>A	ENST00000371929.3	+	23	3359	c.2915G>A	c.(2914-2916)cGg>cAg	p.R972Q	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R972Q|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R941Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	972	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGTCGTGCGGAGGATCCTG	0.667000													27	95					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015077	53015077	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53015077A>G	ENST00000421239.2	+	6	1687	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTGGAGAGAAACCTTACAAGT	0.388000													30	90					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830813	2830813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2830813G>A	ENST00000520002.1	-	58	9307	c.8752C>T	c.(8752-8754)Cct>Tct	p.P2918S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P2917S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2860S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2918S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2859S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2860S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2918						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATCCAGGATTATTTCCT	0.428000													87	160					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166921708	166921708	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:166921708T>G	ENST00000510118.1	-	7	857	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T59P|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T148P|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T156P|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T59P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAGAGCCGGGTGAAGAGGTCC	0.612000													6	27					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554746	150554746	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150554746C>T	ENST00000493429.1	+	4	1772	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	AOC1_ENST00000416793.2_Silent_p.T396T|AOC1_ENST00000360937.4_Silent_p.T396T|AOC1_ENST00000467291.1_Silent_p.T396T					amine oxidase, copper containing 1																		AGACCGCCACCTTCCTGGACA	0.627000													16	97					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284361	33284361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33284361G>A	ENST00000431845.2	-	2	484	c.333C>T	c.(331-333)tcC>tcT	p.S111S	ZBTB22_ENST00000418724.1_Silent_p.S111S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTGTAAGCGGAGGCTAGGA	0.557000													29	84					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70506043	70506043	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:70506043C>T	ENST00000338508.4	-	23	1953	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SHANK2_ENST00000423696.2_Missense_Mutation_p.E272K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E63K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E63K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E62K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E63K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E62K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	272					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGAATTCTTCAATGGGTGTG	0.582000													4	43					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466110	24466110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24466110C>T	ENST00000382137.3	-	3	388	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G107E|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	107	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCCATGGGCCCTGCAAGCCC	0.577000													19	73					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73137881	73137881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73137881C>T	ENST00000541685.1	-	9	1049	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.R356Q	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	177					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCGAACCCCGGCCACTGCG	0.542000													15	28					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655080	247655080	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247655080C>T	ENST00000522351.1	+	0	711							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCCTCATCTCCTATGGCGTG	0.562000													25	81					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941347	144941347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144941347G>A	ENST00000525985.1	-	2	6146	c.6075C>T	c.(6073-6075)ctC>ctT	p.L2025L				P58107	EPIPL_HUMAN	epiplakin 1	2025						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)			TTTCCAGTGGGAGCCGGTGGT	0.602000													7	55					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007757	6007757	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6007757G>A	ENST00000332249.4	-	1	458	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCCATGGCCACAAGTAC	0.537000													5	19					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131211548	131211548	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:131211548G>A	ENST00000337057.3	-	11	1727	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	EPB41L2_ENST00000527659.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R516C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R516C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	516	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCACTATAGCGAAATTTGGAC	0.517000													54	76					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795147	100795147	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100795147G>A	ENST00000361529.3	+	5	490	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	138					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCGGCTTTCGGCCTCGGGGCC	0.682000													15	20					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234584226	234584226	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:234584226C>T	ENST00000040877.1	-	11	1960	c.1961_splice	c.e11+1	p.S654_splice		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	654					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAACAATTACCTATACTGAGT	0.373000													8	39					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56285488	56285488	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56285488G>A	ENST00000393119.2	-	13	1217	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	MKS1_ENST00000546108.1_Silent_p.F178F|MKS1_ENST00000537529.2_Silent_p.F371F|MKS1_ENST00000337050.7_Silent_p.F381F|MKS1_ENST00000313863.6_Silent_p.F381F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	381	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCATGGAGGAAGAAGGCTT	0.527000													10	51					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69031678	69031678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69031678C>T	ENST00000288368.4	+	28	3710	c.3433C>T	c.(3433-3435)Ccc>Tcc	p.P1145S		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	1145					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						TGATGAACTTCCCTTAAGTGT	0.348000													17	80					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687373	123687373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123687373G>A	ENST00000606320.1	-	10	1785	c.1579C>T	c.(1579-1581)Caa>Taa	p.Q527*	MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.Q497*|MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.Q375*|MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.Q375*			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	375					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTTCGTTTTGGAATGTCTGA	0.403000													22	134					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79191069	79191069	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:79191069G>A	ENST00000282003.6	-	6	885	c.827C>T	c.(826-828)tCt>tTt	p.S276F	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	276							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCCATCTGCAGAAAGTGCTGT	0.443000													41	48					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045858	26045858	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26045858G>A	ENST00000540144.1	+	1	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCTGGTGCGAGAAATCGCCCA	0.627000													23	30					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186879	140186879	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186879C>T	ENST00000530339.1	+	1	107	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S36F|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S36F	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)			TACTCGGTCTCCGAGGAGGCC	0.662000													16	77					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330439	3330439	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:3330439C>T	ENST00000382004.3	-	5	605	c.294G>A	c.(292-294)ggG>ggA	p.G98G	RFX3_ENST00000358730.2_Silent_p.G98G|RFX3_ENST00000302303.1_Silent_p.G98G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	98					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)		GGGCGGAACTCCCTTGAGTAT	0.488000													25	38					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626920	108626920	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108626920G>A	ENST00000264047.2	+	9	1622	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G449E|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G344E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	449					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGAATAACTGGAGGGGAGCCA	0.433000													22	59					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370046	56370046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56370046C>T	ENST00000301295.6	+	3	1709	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	NLRP4_ENST00000346986.5_Silent_p.I429I|NLRP4_ENST00000587891.1_Silent_p.I354I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	429	NACHT.						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)		ACGCTGACATCCCTGCGCTGC	0.557000													55	131					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675113	40675113	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40675113C>T	ENST00000416151.2	+	1	192	c.77C>T	c.(76-78)cCa>cTa	p.P26L	KNSTRN_ENST00000249776.8_Missense_Mutation_p.P26L|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P26L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		GATTCCCACCCACTTCCGCCT	0.567000													30	41					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5055947	5055947	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5055947G>A	ENST00000251170.7	+	12	1515	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACACCAGGCGGAAGTTCCTCA	0.483000													7	14					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155727076	155727076	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727076G>A	ENST00000437809.1	-	26	5414	c.5292C>T	c.(5290-5292)gaC>gaT	p.D1764D	GON4L_ENST00000368331.1_Silent_p.D1764D|GON4L_ENST00000271883.5_Silent_p.D1764D			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1764	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGCAGGTGGTCGTGGCCCT	0.532000													14	80					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66768138	66768138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:66768138C>T	ENST00000258198.2	-	6	982	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.R182Q|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R220Q	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	259					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCAGAACCTCCGCAGGTGTGA	0.527000													14	55					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272466	124272466	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124272466C>T	ENST00000409039.3	+	10	1379	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGGGAAGATCGGTGGGAGTT	0.577000													13	25					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103920272	103920272	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:103920272C>T	ENST00000405356.1	+	10	1428	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	NOLC1_ENST00000605788.1_Missense_Mutation_p.S388L|NOLC1_ENST00000603742.1_Missense_Mutation_p.S107L|NOLC1_ENST00000488254.2_Missense_Mutation_p.S389L			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	388	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAGAATTCTTCAAATAAGCCA	0.532000													25	74					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27880848C>T	ENST00000413272.2	-	19	2519	c.2377G>A	c.(2377-2379)Ggg>Agg	p.G793R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G793R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		AGTGATGTCCCGGGGGGGCCA	0.527000													8	29					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476584	35476584	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:35476584C>G	ENST00000357182.4	-	9	1343	c.1116G>C	c.(1114-1116)caG>caC	p.Q372H	ZMYM6_ENST00000487874.1_Missense_Mutation_p.Q372H|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Q372H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCACTTGGCCCTGAGACAGGG	0.493000													15	37					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33376101	33376101	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33376101G>A	ENST00000242067.6	+	10	1586	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	BBS9_ENST00000354265.4_Silent_p.Q355Q|BBS9_ENST00000355070.2_Silent_p.Q355Q|BBS9_ENST00000396127.2_Silent_p.Q355Q|BBS9_ENST00000350941.3_Silent_p.Q355Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	355					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.Q355H(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCACTTGCAGTGTTCATACC	0.373000									Bardet-Biedl syndrome				12	42					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34957051	34957051	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34957051G>A	ENST00000429238.1	-	5	513	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	DONSON_ENST00000432378.1_Silent_p.L210L|DONSON_ENST00000303071.5_Silent_p.L210L|DONSON_ENST00000303113.6_Intron|DONSON_ENST00000453626.1_Silent_p.L210L																							AGGTACAACGGAGCTCAGAGG	0.438000													13	28					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48460949	48460949	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48460949A>T	ENST00000324324.7	-	2	528	c.249T>A	c.(247-249)taT>taA	p.Y83*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.Y83*	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	83					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTTTTGAATAAGGATGAA	0.363000													16	94					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40804825	40804825	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40804825C>T	ENST00000248929.9	+	18	2070	c.1881C>T	c.(1879-1881)acC>acT	p.T627T	SGSM3_ENST00000454798.2_Silent_p.T560T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	627	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AAGTCCTGACCCCGGAGGAGC	0.657000													10	56					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15307441	15307441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:15307441C>T	ENST00000281513.5	-	52	6872	c.6847G>A	c.(6847-6849)Gat>Aat	p.D2283N	NBAS_ENST00000441750.1_Missense_Mutation_p.D2163N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2283										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAATTGGAATCATTCACCTTC	0.517000													8	36					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586945	86586945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:86586945C>T	ENST00000376263.3	-	11	1028	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	HNRNPK_ENST00000351839.3_Missense_Mutation_p.G269S|HNRNPK_ENST00000360384.5_Missense_Mutation_p.G269S|HNRNPK_ENST00000376264.2_Missense_Mutation_p.G269S|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G269S	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	269	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGACGCCCACCCCGACCAGGA	0.582000													14	89					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789974	96789974	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96789974G>A	ENST00000342380.2	-	9	910	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	304					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TAGGGAGGCCGGAGCGGGGCT	0.632000													8	13					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156180	1156180	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1156180C>T	ENST00000356191.2	+	6	503	c.503C>T	c.(502-504)cCt>cTt	p.P168L						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)		GTCTGGGGTCCTCATTCAGCA	0.652000													8	44					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124678	103124678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:103124678C>T	ENST00000295269.4	+	5	1796	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	447					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCTCTTTTTCCTAGGAAGAA	0.353000													11	53					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672822	3672822	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3672822G>A	ENST00000344754.4	-	16	4057	c.4058C>T	c.(4057-4059)tCc>tTc	p.S1353F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1353F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1353	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCCCGGAAGGAGGACAGGAC	0.612000													17	51					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263335	140263335	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263335G>A	ENST00000289272.2	+	1	1482	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Silent_p.L494L|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTCGCTGGTGGAGCGGC	0.662000													20	41					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343668	343668	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:343668G>A	ENST00000262320.3	-	8	2377	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	AXIN1_ENST00000354866.3_Missense_Mutation_p.S669F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	669	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTCAAGGGACAAGGGTCT	0.642000													58	113					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62503685	62503685	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:62503685C>A	ENST00000371158.2	+	30	4110	c.3996C>A	c.(3994-3996)ccC>ccA	p.P1332P	INADL_ENST00000316485.6_Silent_p.P1332P|INADL_ENST00000545929.1_Silent_p.P5P|INADL_ENST00000543708.1_Silent_p.P116P	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1332					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCGTTACTCCCTTTCCAGTGC	0.393000													16	40					9.16793e-09	9.34397e-09	1	1	0
RSL1D1	26156	broad.mit.edu	37	16	11940618	11940618	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11940618A>G	ENST00000571133.1	-	4	539	c.467T>C	c.(466-468)cTt>cCt	p.L156P	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	156					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGCATCAGTAAGGAAGAAATC	0.403000													111	214					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351249	47351249	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47351249C>T	ENST00000505841.1	-	0	373					NR_002788.2																						GGTCACAAGTCCTCGACCTTA	0.448000													6	39					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18548556	18548556	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18548556G>A	ENST00000338128.7	-	3	352	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ISYNA1_ENST00000457269.3_Intron|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000317018.6_5'UTR	NM_016368.4	NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	45					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGAAGCGCGTGGACGTGGGGT	0.721000													3	4					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375903	93375903	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:93375903C>T	ENST00000375765.3	-	2	595	c.207G>A	c.(205-207)ccG>ccA	p.P69P		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	69					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GCTGCATGGCCGGGAACTGGT	0.577000													34	85					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570885	102570885	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:102570885C>T	ENST00000251808.3	+	4	861	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	GRHL2_ENST00000395927.1_Missense_Mutation_p.P159S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	175						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGTGCACTATCCCCGGGGAGA	0.562000													28	54					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115157	168115157	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168115157A>G	ENST00000409728.1	+	11	2289	c.2200A>G	c.(2200-2202)Aaa>Gaa	p.K734E	XIRP2_ENST00000409605.1_Missense_Mutation_p.K479E|XIRP2_ENST00000409756.2_Missense_Mutation_p.K701E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.K734E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.K701E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						AGAAAATCATAAAGAAAATTT	0.299000													11	26					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15572023	15572023	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:15572023T>A	ENST00000424120.1	+	28	3752	c.3498T>A	c.(3496-3498)gaT>gaA	p.D1166E	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1117E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1166E|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1166E			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1166	C2.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCCTTTAGGATGACCGTGAAA	0.403000													3	10					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86114445	86114445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:86114445G>A	ENST00000418930.2	+	2	494	c.298G>A	c.(298-300)Gga>Aga	p.G100R	E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.G100R|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.G100R			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	100					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGTCTTAGAGGGAATTGACTT	0.388000													4	42					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100531	93100531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93100531C>T	ENST00000544406.2	+	2	390	c.124C>T	c.(124-126)Cca>Tca	p.P42S	C12orf74_ENST00000397833.3_Missense_Mutation_p.P42S			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	42										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCGGCAAGCCCCAGGCCGCAT	0.642000													7	70					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70076805	70076805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:70076805C>T	ENST00000282570.3	+	8	1116	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	289					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCAACTTGTGCCTTCTTGGAA	0.299000													12	71					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1460007G>A	ENST00000345913.4	+	7	863	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TPO_ENST00000382201.3_Missense_Mutation_p.D258N|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.D258N|TPO_ENST00000346956.3_Missense_Mutation_p.D258N|TPO_ENST00000337415.3_Missense_Mutation_p.D258N|TPO_ENST00000329066.4_Missense_Mutation_p.D258N|TPO_ENST00000382198.1_Missense_Mutation_p.D258N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					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)	GGGAGGGGCTGACTGCCAGAT	0.463000													4	44					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283441	33283441	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283441G>A	ENST00000431845.2	-	2	1404	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATGTCCAAGGGAAGGAGCGG	0.617000													39	133					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190426734	190426734	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:190426734G>A	ENST00000261024.2	-	8	2012	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	529					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGCCACAAAGGAGACTGAAAT	0.433000													5	36					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648775	130648775	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:130648775G>A	ENST00000539839.1	+	1	1772	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E	FZD10_ENST00000229030.4_Missense_Mutation_p.G430S	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GATGAAGACGGGCGGCGAGAA	0.607000													13	60					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874263	151874263	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151874263A>C	ENST00000355193.2	-	38	8493	c.8275T>G	c.(8275-8277)Tat>Gat	p.Y2759D	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y2759D					lysine (K)-specific methyltransferase 2C																		GGATCTGTATATGCAATGATA	0.368000													43	70					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582000													3	28					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101982730	101982730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101982730G>A	ENST00000370397.7	-	3	294	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	70	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ACATTGGCATGGTTCAACCTA	0.338000													35	18					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120252438	120252438	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:120252438T>C	ENST00000276681.6	+	4	439	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	113	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATTTGTCTTCTATTTTGGAGC	0.358000													39	79					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177418	153177418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153177418C>T	ENST00000368747.1	+	2	345	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	79	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCCTGTCCTCCTAAATG	0.632000													4	40					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476956	20476956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20476956G>A	ENST00000573854.1	+	3	409	c.295G>A	c.(295-297)Gga>Aga	p.G99R	ACSM2A_ENST00000396104.2_Missense_Mutation_p.G99R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G20R|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G99R	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	99					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGTCCTCTCGGGAGCCTGTGG	0.592000													16	51					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332191	50332191	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:50332191G>A	ENST00000336307.1	-	2	1115	c.843C>T	c.(841-843)gtC>gtT	p.V281V	HYAL3_ENST00000415204.1_Silent_p.V32V|HYAL3_ENST00000359051.3_Silent_p.V281V|HYAL3_ENST00000513170.1_Silent_p.V32V|HYAL3_ENST00000450982.1_Silent_p.V281V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	281					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)		CATAGGCCAGGACAGGCAGGG	0.637000													17	43					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65633309	65633309	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65633309C>T	ENST00000308110.4	+	15	1882	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	MUS81_ENST00000533035.1_Silent_p.A436A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	511					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ATGCCTGTGCCACCCCCAAGG	0.627000								Homologous recombination					17	101					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150300844	150300844	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150300844C>T	ENST00000324862.6	+	4	507	c.342C>T	c.(340-342)ccC>ccT	p.P114P	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	114					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GACGAATACCCCGTTTTGAGG	0.498000													25	134					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131797639	131797639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131797639G>A	ENST00000286355.5	-	16	5235	c.3143C>T	c.(3142-3144)cCt>cTt	p.P1048L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P917L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1048					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTTTTTCAGGTGACAGGCC	0.498000										HNSCC(32;0.087)			13	80					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43897985	43897985	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43897985G>A	ENST00000562955.1	+	36	5146	c.5146G>A	c.(5146-5148)Gac>Aac	p.D1716N	SZT2_ENST00000372442.1_Missense_Mutation_p.D874N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1773						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTTCTTGAAGACCCTGACAG	0.587000													56	191					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109290808	109290808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109290808C>T	ENST00000228476.3	+	8	843	c.639C>T	c.(637-639)ttC>ttT	p.F213F	DAO_ENST00000551281.1_Silent_p.F147F	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	213					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGAAGCACTTCATTCTCACCC	0.547000													20	88					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647719	20647719	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20647719G>A	ENST00000272233.4	+	1	885	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	165					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CAAGACCAAGGAAGGCGTGCG	0.662000													20	101					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904874	205904874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205904874C>T	ENST00000367135.3	-	2	188	c.75G>A	c.(73-75)gaG>gaA	p.E25E	SLC26A9_ENST00000340781.4_Silent_p.E25E|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Silent_p.E25E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	25						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCCTTCTTCTCAAACTCAT	0.542000													28	115					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802480	129802480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129802480G>A	ENST00000421865.2	+	55	7694	c.7645G>A	c.(7645-7647)Gaa>Aaa	p.E2549K	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2549	Laminin G-like 3.				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)		TGTAGGAACAGAAATCAACCT	0.463000													26	95					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915395	40915395	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915395C>T	ENST00000346991.5	+	11	3401	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	CASC5_ENST00000399668.2_Missense_Mutation_p.S978F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1004	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTGAACTATCCCAAAGGAAA	0.388000													4	56					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380879	28380879	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28380879A>C	ENST00000394835.3	+	10	2099	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q293P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q636P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q636P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q636P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q580P	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	636							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCTGCAGAACAGGGATCACTC	0.443000													29	96					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189930	50189930	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189930G>A	ENST00000335999.6	-	8	1914	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTGGCTCTGGGGAAGGCCCCC	0.622000													10	34					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100174846	100174846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174846G>A	ENST00000370575.4	-	1	95	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	16							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGCCGGGAAGGGAGAGGCGGC	0.592000													23	64					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289089	98289089	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289089G>A	ENST00000322128.3	-	1	1087	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	328					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGAGCCACTGGATTGGAGTAG	0.493000													14	79					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	12					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582178	128582178	+	Missense_Mutation	SNP	G	G	A	rs142800920		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128582178G>A	ENST00000402030.2	+	2	115	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	IRF5_ENST00000357234.5_Missense_Mutation_p.V15M|IRF5_ENST00000473745.1_Missense_Mutation_p.V15M|IRF5_ENST00000249375.4_Missense_Mutation_p.V15M|IRF5_ENST00000477535.1_Missense_Mutation_p.V15M	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	15					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACCCCGCCGCGTGCGGCTGAA	0.622000													11	60					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185578379	185578379	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:185578379A>G	ENST00000314970.6	+	3	518	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CCDC111_ENST00000503752.1_Missense_Mutation_p.R29G|CCDC111_ENST00000512834.1_Missense_Mutation_p.R29G|CCDC111_ENST00000515774.1_Intron	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		29					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CTCAGTGTATAGACCAAGATT	0.393000													3	61					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652952	55652952	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55652952C>T	ENST00000449290.2	+	2	140	c.48C>T	c.(46-48)ccC>ccT	p.P16P		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	16						intracellular	zinc ion binding										TCACCTGTCCCATCTGCATGA	0.493000													12	127					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049491	80049491	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80049491G>A	ENST00000306749.2	-	9	1317	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	367	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACAGCGCTGGGATCTCAGGG	0.682000													3	13					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469512	25469512	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25469512G>A	ENST00000264709.3	-	10	1593	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.P196L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P419L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P230L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	419					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCTTAGGGCCAGAAGG	0.617000			"""Mis, F, N, S"""		AML								8	61					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885084	88885084	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:88885084G>A	ENST00000319675.3	-	1	1212	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAAGCCCCCGAGGCGAGAAG	0.592000													23	51					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240774	1240774	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:1240774G>A	ENST00000324642.3	+	7	1097	c.974_splice	c.e7+1	p.R325_splice	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	325					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCTGGACAGGTGAGCACAG	0.622000													9	29					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438186	196438186	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196438186C>T	ENST00000367433.5	-	6	498	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	KCNT2_ENST00000294725.8_Missense_Mutation_p.E133K|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E133K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAATCTGTTCCCAGATGTTT	0.338000													4	13					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59383308	59383308	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59383308C>T	ENST00000348370.4	+	12	3127	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	RNF111_ENST00000434298.1_Silent_p.S907S|RNF111_ENST00000561186.1_Silent_p.S907S|RNF111_ENST00000557998.1_Silent_p.S898S|RNF111_ENST00000559209.1_Silent_p.S907S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	898					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGGAGCATCCCAGGGGACAA	0.338000													29	169					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077598	56077598	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077598G>A	ENST00000394252.3	+	2	709	c.498_splice	c.e2-1	p.G167_splice		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCCTCCCAGGGAGGTGTGCTC	0.522000													11	79					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74193715	74193715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:74193715C>T	ENST00000289473.4	+	4	412	c.342C>T	c.(340-342)ctC>ctT	p.L114L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	114	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCCCACCTCCTCGACTTCT	0.632000													6	50					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193065760	193065760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:193065760G>A	ENST00000367440.3	-	4	968	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	GLRX2_ENST00000367439.3_Nonsense_Mutation_p.Q164*	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	164					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AAACATCACTGAAATTCTTTC	0.323000													12	9					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587686	47587686	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587686C>T	ENST00000371917.4	+	10	1220	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	407					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGGTGGTTTCCCTGCAGCTG	0.448000													41	116					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7849045	7849045	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849045G>A	ENST00000380262.3	+	13	2659		c.e13-1		CNTROB_ENST00000563694.1_Splice_Site|CNTROB_ENST00000380255.3_Splice_Site|CNTROB_ENST00000565740.1_Splice_Site	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTCCTGGTCAGGCTCCTCCTG	0.537000													22	51					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697958	113697958	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697958G>A	ENST00000297405.5	-	15	2403	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P720L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P616L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P680L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	720						integral to membrane|plasma membrane		p.P720L(1)|p.P680L(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						AGACAGGCAGGGAACTGGTGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	78					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20208964	20208964	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:20208964C>T	ENST00000245957.5	+	18	2080	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000377293.1_Silent_p.I24I|C20orf26_ENST00000377309.2_Silent_p.I24I|C20orf26_ENST00000389656.3_Silent_p.I24I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	668										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGCCAAGATCATTGTGGTTG	0.333000													93	110					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204055018	204055018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:204055018C>T	ENST00000449802.1	+	45	7073	c.6740C>T	c.(6739-6741)gCt>gTt	p.A2247V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2247	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTTTAGGAGCTGTGGATCTG	0.383000													37	75					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55209756	55209756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:55209756C>T	ENST00000337526.6	-	5	3498	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	RTN4_ENST00000404909.1_Silent_p.E879E|RTN4_ENST00000402434.2_Silent_p.E238E|RTN4_ENST00000394609.2_Silent_p.E92E|RTN4_ENST00000394611.2_Silent_p.E879E|RTN4_ENST00000317610.7_Silent_p.E266E|RTN4_ENST00000405240.1_Silent_p.E879E|RTN4_ENST00000357376.3_Silent_p.E879E|RTN4_ENST00000354474.6_Silent_p.E853E|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000357732.4_Silent_p.E285E	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1085	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GAACCAACTCCTCAGATATAG	0.383000													31	62					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546623	2546623	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2546623C>T	ENST00000567020.1	+	2	614	c.474C>T	c.(472-474)atC>atT	p.I158I	TBC1D24_ENST00000434757.2_Silent_p.I158I|TBC1D24_ENST00000293970.5_Silent_p.I158I|RP11-20I23.1_ENST00000564543.1_Silent_p.I158I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	158	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCTGCCGCATCCTGGCCTGCA	0.642000													10	26					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:81188003C>T	ENST00000456523.3	+	1	211	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000312465.7_Missense_Mutation_p.L9F	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627000													3	68					0	0	1	0	0
NABP2	79035	broad.mit.edu	37	12	56622941	56622941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56622941C>T	ENST00000380198.2	+	6	1078	c.580C>T	c.(580-582)Cct>Tct	p.P194S	NABP2_ENST00000341463.5_Missense_Mutation_p.P194S|NABP2_ENST00000267023.4_Missense_Mutation_p.P194S					nucleic acid binding protein 2																		CCCGCCTGGCCCTTCCAGCAA	0.597000													17	84					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96106245	96106245	+	Missense_Mutation	SNP	C	C	T	rs139502011	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96106245C>T	ENST00000453304.1	-	13	2587	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	747					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.D747N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCGATATCGTGAATTGAC	0.463000													21	93					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48734518	48734518	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48734518T>G	ENST00000294952.8	+	19	2236	c.2079T>G	c.(2077-2079)taT>taG	p.Y693*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Y682*|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Y651*	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	693										endometrium(2)|kidney(4)|lung(9)	15						TGCATTTTTATGCCGAGGTGA	0.418000													15	84					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618783	37618783	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:37618783C>T	ENST00000399151.3	+	19	4590	c.4505C>T	c.(4504-4506)gCg>gTg	p.A1502V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1502					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGTCTCTGCGGTGGTGAGG	0.652000													5	36					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724701	158724701	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158724701G>A	ENST00000368144.2	+	1	192	c.96G>A	c.(94-96)ggG>ggA	p.G32G		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CGGCCAGTGGGAATCAGACAA	0.433000													26	91					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898501	112898501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112898501C>T	ENST00000374530.3	+	8	857	c.677C>T	c.(676-678)tCc>tTc	p.S226F	AKAP2_ENST00000555236.1_Missense_Mutation_p.S226F|AKAP2_ENST00000434623.2_Missense_Mutation_p.S84F|AKAP2_ENST00000374525.1_Missense_Mutation_p.S84F|AKAP2_ENST00000510514.5_Missense_Mutation_p.S226F|AKAP2_ENST00000259318.7_5'UTR|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S226F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		217							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGCTCTCTTTCCCCAGATCAC	0.507000													35	124					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830111	7830111	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:7830111C>T	ENST00000327325.5	+	3	289	c.171C>T	c.(169-171)tcC>tcT	p.S57S	CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000597522.1_Silent_p.S57S|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000357361.2_Silent_p.S57S|CLEC4M_ENST00000334806.5_Silent_p.S29S|CLEC4M_ENST00000248228.4_Silent_p.S57S|CLEC4M_ENST00000596363.1_Silent_p.S29S|CLEC4M_ENST00000394122.2_Silent_p.S49S|CLEC4M_ENST00000359059.5_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	57					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCTCTCCTTCATGCTCT	0.622000													22	53					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744039	76744039	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744039G>A	ENST00000369963.3	-	3	445	c.256C>T	c.(256-258)Cct>Tct	p.P86S	IMPG1_ENST00000369950.3_Missense_Mutation_p.P164S			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	164					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)				TGCCTGTCAGGGAAACTTCTC	0.338000													12	31					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	rs141762692		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:51412038G>A	ENST00000319760.6	-	1	410	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468000													13	44					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47486606	47486606	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:47486606G>A	ENST00000247153.3	-	6	941	c.700C>T	c.(700-702)Cct>Tct	p.P234S	CFP_ENST00000377005.2_Missense_Mutation_p.P234S|CFP_ENST00000396992.3_Missense_Mutation_p.P234S	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	234	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCTTCCCAGGAGGTTTCTGG	0.662000													8	7					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641804	57641804	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57641804C>T	ENST00000254181.4	+	4	2215	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	USP29_ENST00000598197.1_Silent_p.S587S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	587					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)		CCTCAGAATCCAGTGATTCCC	0.488000													13	114					0	0	1	0	0
NABP2	79035	broad.mit.edu	37	12	56622940	56622940	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56622940C>T	ENST00000380198.2	+	6	1077	c.579C>T	c.(577-579)ggC>ggT	p.G193G	NABP2_ENST00000341463.5_Silent_p.G193G|NABP2_ENST00000267023.4_Silent_p.G193G					nucleic acid binding protein 2																		GCCCGCCTGGCCCTTCCAGCA	0.597000													17	86					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23793209	23793209	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793209T>A	ENST00000397276.2	+	5	690	c.677T>A	c.(676-678)gTg>gAg	p.V226E	PABPN1_ENST00000216727.4_Missense_Mutation_p.V226E|PABPN1_ENST00000557702.1_Missense_Mutation_p.V98E|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.V253E|PABPN1_ENST00000556821.1_Missense_Mutation_p.V98E|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.V253E					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAAGAGTCAGTGAGGACTTCC	0.413000													11	65					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743190	1743190	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1743190C>T	ENST00000381241.3	+	3	472	c.273C>T	c.(271-273)agC>agT	p.S91S	ASMT_ENST00000381229.4_Silent_p.S91S|ASMT_ENST00000381233.3_Silent_p.S91S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	91					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				AGCTGTCCAGCGACTACCTGA	0.572000													31	369					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475253	74475253	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74475253C>T	ENST00000591885.1	-	5	929	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	RHBDF2_ENST00000389760.4_Missense_Mutation_p.A127T|RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000313080.4_Missense_Mutation_p.A156T			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	156					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGCACGAGGCCTTCAGGCGG	0.677000													14	42					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249753	140249753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140249753C>T	ENST00000398640.2	+	1	1065	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTTGTCCCTCCCAGTAC	0.572000													23	38					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812343	133812343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:133812343G>A	ENST00000285928.2	+	1	292	c.223G>A	c.(223-225)Gac>Aac	p.D75N	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	75							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCTGGACTCGGACGGAGATGA	0.597000													9	56					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11750976	11750976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11750976C>T	ENST00000381486.2	+	18	3129	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P	GREB1_ENST00000234142.5_Silent_p.P943P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	943						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCAGTGCCCCTGCGGCCACG	0.692000													11	19					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724598	39724598	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39724598G>A	ENST00000246662.4	-	6	1275	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	KRT9_ENST00000588431.1_Missense_Mutation_p.R171C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	404	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCACAGTAGCGGTTCTTCGTG	0.507000													14	86					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6122811	6122811	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6122811C>T	ENST00000261405.5	-	32	5710	c.5455_splice	c.e32-1	p.R1819_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1819	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTGTCACTCCTAGAGTTAG	0.507000													17	47					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236021	19236021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19236021C>T	ENST00000562034.1	+	5	4704	c.906C>T	c.(904-906)atC>atT	p.I302I	SYT17_ENST00000355377.2_Silent_p.I363I|SYT17_ENST00000568115.1_Silent_p.I302I|SYT17_ENST00000568433.1_Silent_p.I57I|SYT17_ENST00000562711.2_Silent_p.I359I			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	363						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTGTGAAAATCCAGCTGGTGC	0.428000													26	58					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769334	125769334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125769334C>T	ENST00000425380.2	+	3	852	c.71C>T	c.(70-72)gCt>gTt	p.A24V	HYLS1_ENST00000526028.1_Missense_Mutation_p.A24V|HYLS1_ENST00000356438.3_Missense_Mutation_p.A24V|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	24						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTGGCAGCTGCTACAGCTTTT	0.473000													8	87					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33433486	33433486	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33433486C>T	ENST00000345365.6	-	6	750	c.495G>A	c.(493-495)cgG>cgA	p.R165R	RAD51D_ENST00000360276.3_Silent_p.R120R|RAD51D_ENST00000394589.4_Silent_p.R165R|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Silent_p.R53R|RAD51D_ENST00000460118.2_Silent_p.R46R|RAD51L3-RFFL_ENST00000593039.1_Silent_p.R6R|RAD51D_ENST00000590016.1_Silent_p.R185R	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	165			R -> Q (in dbSNP:rs4796033).		DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCTGGATCCTCCGGAGAGCTT	0.567000								Direct reversal of damage					9	17					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910306	77910306	+	Silent	SNP	C	C	T	rs150412236	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77910306C>T	ENST00000302536.2	+	5	915	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	254							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGGATTGCCTCTGTGGGGACA	0.483000													27	121					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996845	29996845	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996845C>T	ENST00000308893.4	+	14	2777	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	TAOK2_ENST00000416441.2_Silent_p.A405A|TAOK2_ENST00000543033.1_Silent_p.A578A|TAOK2_ENST00000279394.3_Silent_p.A578A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	578					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTGGCTGCCCTGCTGGAGG	0.637000													6	33					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578238	10578238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10578238G>A	ENST00000380702.2	+	16	2536	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	PDE4A_ENST00000440014.2_Missense_Mutation_p.E807K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E629K|PDE4A_ENST00000352831.6_Missense_Mutation_p.E868K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E842K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E846K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	868					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GACATTTGGGGAGGACACATC	0.692000													32	42					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001414	11001414	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11001414G>A	ENST00000324288.8	+	11	2198	c.2065G>A	c.(2065-2067)Gcg>Acg	p.A689T	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	689	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGGACCTGGGCGATGGCCAA	0.657000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								14	73					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466122	119466122	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119466122C>T	ENST00000369429.3	-	5	807	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TBX15_ENST00000207157.3_Silent_p.G160G			Q96SF7	TBX15_HUMAN	T-box 15	266						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGTTTTCACCCCATCCCCAA	0.488000													14	38					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130789	38130789	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38130789G>A	ENST00000406386.3	+	9	4701	c.4446G>A	c.(4444-4446)agG>agA	p.R1482R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1482					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCACTTCCAGGGAGTACAAGG	0.682000													4	18					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17062129	17062129	+	Missense_Mutation	SNP	C	C	T	rs146616345		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17062129C>T	ENST00000395811.5	+	14	1948	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	MPRIP_ENST00000341712.4_Missense_Mutation_p.P620L|MPRIP_ENST00000395804.3_Missense_Mutation_p.P620L|MPRIP_ENST00000444976.1_Missense_Mutation_p.P582L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	620	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GACCGGAGCCCAGGGCTGCCT	0.652000													33	28					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000													13	64					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65255158	65255158	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:65255158C>T	ENST00000294428.3	+	5	1144	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L356F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L62F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	356						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTTGCAAGTTCTTCTACAGCC	0.368000													18	41					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622463	41622463	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41622463G>A	ENST00000331105.2	+	3	347	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	92					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GTGGACCAGGGAGAGGAGTTT	0.587000													16	50					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642126	94642126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94642126C>T	ENST00000258526.4	+	14	2965	c.2716C>T	c.(2716-2718)Ctt>Ttt	p.L906F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	906					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCACCATCCTTTGCAAAAT	0.393000													19	82					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36573968	36573968	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36573968C>T	ENST00000401500.2	+	11	1410	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	WDR62_ENST00000270301.7_Silent_p.L459L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	459					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTGCAGACCCTGCTGAAGGT	0.552000													4	15					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858399	15858399	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:15858399G>A	ENST00000285670.2	-	9	1334	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	SAMSN1_ENST00000400566.1_Missense_Mutation_p.S319F|SAMSN1_ENST00000400564.1_Missense_Mutation_p.S151F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	319					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGAGCTCAAGGATAGGGGCTC	0.393000													6	30					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036075	1036075	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1036075C>T	ENST00000562958.2	+	5	433	c.400C>T	c.(400-402)Cta>Tta	p.L134L	CNN2_ENST00000263097.4_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000565096.2_Intron|CNN2_ENST00000606983.1_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGGCCTAGATCTAGGGTCCCT	0.672000													4	13					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934783	150934783	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934783C>T	ENST00000035307.2	+	4	2848	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	CHPF2_ENST00000495645.1_Silent_p.T437T	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGGAGTACACCCTGGACCTGC	0.657000													12	64					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54857044	54857044	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857044G>A	ENST00000552397.1	-	4	1051	c.155C>T	c.(154-156)cCc>cTc	p.P52L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Missense_Mutation_p.P52L			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGCATTGAAGGGACAAGTAGC	0.428000													12	89					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:26806283G>T	ENST00000541819.2	-	9	1146	c.1044C>A	c.(1042-1044)caC>caA	p.H348Q	GABRB3_ENST00000311550.5_Missense_Mutation_p.H292Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.H221Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.H292Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.H207Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	292					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.H292Q(2)|p.H348Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCCGAAGGTGGGTGTTGA	0.473000													22	125					3.8784e-16	4.00872e-16	1	1	0
SPIB	6689	broad.mit.edu	37	19	50926874	50926874	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50926874C>T	ENST00000595883.1	+	5	377	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	SPIB_ENST00000439922.2_Missense_Mutation_p.P27S|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000270632.7_Missense_Mutation_p.P118S|SPIB_ENST00000596074.1_Missense_Mutation_p.P46L	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	118					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTGGTTCCCCCGGCATATGC	0.647000													6	23					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496109	45496109	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45496109C>T	ENST00000541297.2	+	14	2387	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	CLPTM1_ENST00000546079.1_Missense_Mutation_p.P553L|CLPTM1_ENST00000337392.5_Missense_Mutation_p.P655L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	655					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCCAGCGAGCCCCAGGAAGCC	0.672000													8	33					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51534993	51534993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:51534993C>T	ENST00000396402.1	-	2	270	c.117G>A	c.(115-117)tgG>tgA	p.W39*	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000557858.1_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000396404.4_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000559878.1_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000405913.3_Nonsense_Mutation_p.W39*	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	39			W -> R (in dbSNP:rs2236722).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCTCATAATTCCACACCAAGA	0.443000													34	30					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614398	108614398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108614398G>T	ENST00000264047.2	+	5	829	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A185S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A80S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	185					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATTCTGTGGCCTACACTGA	0.453000													85	125					7.7321e-48	8.07515e-48	1	1	0
CDH11	1009	broad.mit.edu	37	16	65006865	65006865	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:65006865T>C	ENST00000394156.3	-	9	1785	c.1332A>G	c.(1330-1332)aaA>aaG	p.K444K	CDH11_ENST00000268603.4_Silent_p.K444K|CDH11_ENST00000566827.1_Silent_p.K318K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	444	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TATCCAGAGGTTTTGTAGTTT	0.403000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			16	42					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160276	38160276	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:38160276C>T	ENST00000379747.4	-	7	1012	c.895_splice	c.e7+1	p.A299_splice	POSTN_ENST00000379743.4_Splice_Site_p.A299_splice|POSTN_ENST00000541481.1_Splice_Site_p.A299_splice|POSTN_ENST00000541179.1_Splice_Site_p.A299_splice|POSTN_ENST00000379742.4_Splice_Site_p.A299_splice|POSTN_ENST00000379749.4_Splice_Site_p.A299_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	299	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTAAACTACCTTCGGAAGCC	0.418000													33	61					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315322	30315322	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:30315322C>T	ENST00000375377.1	-	3	3856	c.3755G>A	c.(3754-3756)aGg>aAg	p.R1252K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1252										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGCTCTCCTAGGCGGGGA	0.522000													14	53					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40762855	40762855	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40762855G>A	ENST00000392038.2	-	3	451	c.153C>T	c.(151-153)ccC>ccT	p.P51P	AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Silent_p.P51P|AKT2_ENST00000311278.6_Silent_p.P51P	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	51	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGTTGTTTAAGGGGGGTAGAG	0.572000			A		"""ovarian, pancreatic """								11	49					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103808	2103808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2103808C>T	ENST00000400921.2	+	10	1400	c.717C>T	c.(715-717)atC>atT	p.I239I	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.I239I	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	422					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CCCCCGAAATCCTGCGGGGAG	0.647000													4	12					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377334	104377334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:104377334G>A	ENST00000535008.1	+	4	782	c.658G>A	c.(658-660)Gag>Aag	p.E220K	LHFPL3_ENST00000401970.2_Missense_Mutation_p.E206K|LHFPL3_ENST00000543266.1_Missense_Mutation_p.E220K|LHFPL3_ENST00000424859.1_Missense_Mutation_p.E206K			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	206						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CTTGATGGCAGAGGAACTGAA	0.443000													3	20					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124487183	124487183	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124487183C>T	ENST00000284288.2	+	3	405	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	113					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCCCCTACTCCCTGCTGGCC	0.647000													5	29					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19235287	19235287	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19235287C>T	ENST00000314728.5	+	10	2017	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	EPN2_ENST00000575595.1_Silent_p.S219S|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000571254.1_Silent_p.S447S|EPN2_ENST00000347697.2_Silent_p.S454S|EPN2_ENST00000395618.3_Silent_p.S226S|EPN2_ENST00000395620.2_Silent_p.S454S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	511	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTGAGTCCTTCCTGGGCC	0.617000													13	71					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84564767	84564767	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84564767C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CAAAGGCATCCCCAATCCATG	0.502000													5	9					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34727665	34727665	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34727665C>T	ENST00000270139.3	+	11	1636	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S426F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S434F	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	495					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTTTCAACTTCTGAGGAACAA	0.264000													14	51					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209024	45209024	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45209024G>A	ENST00000587331.1	+	5	1041	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.D276N	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	276										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GAACGGCCAAGACCACCTCAA	0.577000													19	43					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298179	167298179	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298179T>C	ENST00000409855.1	-	14	2010	c.1884A>G	c.(1882-1884)aaA>aaG	p.K628K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	628					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGACCAAGTCTTTCAGGGCCA	0.388000													43	46					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717158	39717158	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:39717158C>T	ENST00000553728.1	+	4	1593	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	MIA2_ENST00000556784.1_Silent_p.F459F|MIA2_ENST00000280082.3_Silent_p.F460F																							TGAAAAAGTTCTTGTATAATT	0.308000													24	90					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71784220	71784220	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71784220G>A	ENST00000299980.4	-	14	1741	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	AP1G1_ENST00000569748.1_Missense_Mutation_p.R434C|AP1G1_ENST00000423132.2_Missense_Mutation_p.R437C|AP1G1_ENST00000433195.2_Missense_Mutation_p.R457C|AP1G1_ENST00000393512.3_Missense_Mutation_p.R437C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCATCATCACGAACATAACTT	0.373000													12	99					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189365	11189365	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11189365C>T	ENST00000382435.4	+	1	969	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	250						integral to membrane											CCAGTGACCTCCTGAGTTGGA	0.637000													11	106					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55195921	55195921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55195921C>T	ENST00000396834.1	+	10	1469	c.973C>T	c.(973-975)Cca>Tca	p.P325S	IL31RA_ENST00000354961.4_Missense_Mutation_p.P325S|IL31RA_ENST00000490985.1_Missense_Mutation_p.P202S|IL31RA_ENST00000297015.3_Missense_Mutation_p.P202S|IL31RA_ENST00000359040.5_Missense_Mutation_p.P344S|IL31RA_ENST00000396836.2_Missense_Mutation_p.P344S|IL31RA_ENST00000447346.2_Missense_Mutation_p.P344S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	312	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGAAGTCTCCAGTGGCCAC	0.458000													36	165					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18241341	18241341	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18241341C>A	ENST00000262811.5	+	13	1174	c.1174C>A	c.(1174-1176)Cgc>Agc	p.R392S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	392	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CACACGGCAGCGCTTTGCCAT	0.592000													3	9					1	1	1	1	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848976	98848976	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:98848976G>A	ENST00000554295.1	-	0	1947					NR_033801.1																						TGGTTGGCGGGGAGCCGCTTT	0.612000													9	10					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480250	206480250	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:206480250C>T	ENST00000406610.2	+	23	3538	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	PARD3B_ENST00000351153.1_Missense_Mutation_p.P1042S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1010S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1049S	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	1111					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)		AAGGGAGCTTCCCTATTATCC	0.577000													12	74					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50434207	50434207	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50434207C>T	ENST00000423777.2	+	2	477	c.100C>T	c.(100-102)Cct>Tct	p.P34S	ATF5_ENST00000600336.1_Missense_Mutation_p.P34S|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P34S	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	34					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCCCGGCCCCTGCCCCCCT	0.687000													3	14					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039968	166039968	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:166039968C>T	ENST00000338353.3	-	3	885	c.296G>A	c.(295-297)gGg>gAg	p.G99E	FAM78B_ENST00000354422.3_Missense_Mutation_p.G99E			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	99										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTTTACTCTCCCTTCCCTCAA	0.507000													10	44					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48255849	48255849	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:48255849C>T	ENST00000246802.5	+	6	788	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	250						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAATCCATCCTTTGAAGACC	0.647000													12	34					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170000	58170000	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:58170000C>T	ENST00000309403.2	-	1	882	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCACTCTTCACTTCCTTGTTC	0.433000													23	138					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265892	22265892	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22265892C>T	ENST00000390430.2	+	0	307																											TGTCCAGTACCCTGGTCAACA	0.448000													43	85					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214149396	214149396	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:214149396G>A	ENST00000413312.1	+	1	257	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000432529.2_Intron|SPAG16_ENST00000331683.5_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATGGGTGTTGGGACGAAGGCG	0.672000													3	9					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661678	36661678	+	Missense_Mutation	SNP	C	C	T	rs41311348		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:36661678C>T	ENST00000319136.4	+	7	1111	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	APOL1_ENST00000397278.3_Missense_Mutation_p.L266F|APOL1_ENST00000347595.7_Missense_Mutation_p.L145F|APOL1_ENST00000426053.1_Missense_Mutation_p.L248F|APOL1_ENST00000422706.1_Missense_Mutation_p.L266F|APOL1_ENST00000397279.4_Missense_Mutation_p.L266F	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	266					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATCCAACTTTCTTTCCTTAGC	0.507000													15	49					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6973918	6973918	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6973918C>T	ENST00000229268.8	+	18	2329	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	USP5_ENST00000389231.5_Silent_p.I736I	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	759	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGACTGGATCTTCAGTCACA	0.527000													22	60					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491316	30491316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30491316G>A	ENST00000222823.4	-	6	2242	c.1717C>T	c.(1717-1719)Ccg>Tcg	p.P573S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	573					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCCCGCGCCGGACCACTGCCC	0.607000													13	65					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274318	56274318	+	Missense_Mutation	SNP	C	C	T	rs138263557		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56274318C>T	ENST00000225371.5	+	7	930	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	274					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAATGACCCCCGCATCAAGAA	0.562000													21	68					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730848	30730848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30730848C>T	ENST00000217315.5	+	6	881	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Q198*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	198						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)			GGAAGAGGACCAGGAGCACAC	0.562000													50	54					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936457	54936457	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54936457C>T	ENST00000293373.6	+	31	3451	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	NCKAP1L_ENST00000545638.2_Silent_p.F1074F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1124					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCGGGCCTTCCACCTAAACT	0.557000													13	81					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1856328	1856328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1856328G>A	ENST00000535046.1	+	2	449	c.449G>A	c.(448-450)gGt>gAt	p.G150D	SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.G12D			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	12	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCAGCAGGGTAGAAAGATG	0.667000													7	32					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230098	94230098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94230098G>A	ENST00000544253.1	+	2	357	c.239G>A	c.(238-240)tGg>tAg	p.W80*	ANKRD49_ENST00000544612.1_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000302755.4_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000540349.1_Nonsense_Mutation_p.W80*			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	80					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTTCTTTGGGCTGCTGAA	0.393000													27	109					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851749	10851749	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10851749C>T	ENST00000283027.5	+	7	490	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.L146L	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	157					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGCAGTTCCTCCGAGATGTGG	0.502000													9	128					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188057	121188057	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:121188057G>A	ENST00000321339.1	+	1	408	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	133	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAGGCTGCAGAACCAGCGAG	0.597000													14	57					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961441	34961441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34961441C>T	ENST00000329357.5	+	1	529	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	165										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCTTGGGCTCGTTGTGAGGC	0.597000													17	24					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	rs150542987		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5498571C>T	ENST00000355029.4	+	12	1547	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_ENST00000380359.3_Missense_Mutation_p.R415C|NET1_ENST00000542715.1_Missense_Mutation_p.R288C	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403000													15	75					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335135	78335135	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78335135G>A	ENST00000466548.1	+	7	1547	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	SLAIN1_ENST00000351546.3_Silent_p.P244P|SLAIN1_ENST00000418532.1_Silent_p.P288P|SLAIN1_ENST00000488699.1_Silent_p.P365P|SLAIN1_ENST00000358679.3_Silent_p.P244P|SLAIN1_ENST00000267219.8_Silent_p.P288P|SLAIN1_ENST00000314070.5_Silent_p.P130P	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	507										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCCCCACACCGAACAAAGCTG	0.488000													19	60					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258557	9258557	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9258557C>T	ENST00000383440.2	+	8	5480	c.5223C>T	c.(5221-5223)tcC>tcT	p.S1741S	ANKRD12_ENST00000400020.3_Silent_p.S1741S|ANKRD12_ENST00000262126.3_Silent_p.S1764S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1764						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGTGAATCCTCATCTCCTA	0.398000													8	27					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605578	58605578	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58605578T>G	ENST00000267485.7	-	2	693	c.499A>C	c.(499-501)Act>Cct	p.T167P	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	167						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGAAAGTTAGTGCTTGTAAGG	0.408000													4	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910350	10910350	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:10910350C>T	ENST00000298232.7	-	21	1719	c.1352G>A	c.(1351-1353)gGt>gAt	p.G451D	TPTE_ENST00000342420.5_Missense_Mutation_p.G431D|TPTE_ENST00000361285.4_Missense_Mutation_p.G469D|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGGTAGACCGTCGAATAC	0.343000													7	79					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106924058	106924058	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:106924058G>A	ENST00000393603.2	-	13	1797	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	COG5_ENST00000297135.3_Missense_Mutation_p.P509L|COG5_ENST00000347053.3_Missense_Mutation_p.P509L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	509					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGAGGAAGGAGGATTACG	0.388000													14	87					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808218	4808218	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4808218C>T	ENST00000302640.8	+	44	5854	c.5504C>T	c.(5503-5505)tCc>tTc	p.S1835F	ITPR1_ENST00000443694.2_Missense_Mutation_p.S1835F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1787F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S1835F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S1802F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1802F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1850					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTGCAGCACTCCTTTTTCTGT	0.428000													9	45					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916606	72916606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72916606C>T	ENST00000319642.1	-	2	507	c.325G>A	c.(325-327)Ggc>Agc	p.G109S		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	109					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCATGTGGCCCTTCATGGCA	0.607000													48	50					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158532	2158532	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158532G>A	ENST00000262304.4	-	15	6844	c.6636C>T	c.(6634-6636)agC>agT	p.S2212S	PKD1_ENST00000423118.1_Silent_p.S2212S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2212	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGAGGCCGGCTCACGTCCA	0.682000													11	23					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157099102	157099102	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157099102G>A	ENST00000362010.2	-	7	1277	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	VEPH1_ENST00000392833.2_Missense_Mutation_p.H324Y|VEPH1_ENST00000543418.1_Missense_Mutation_p.H324Y|VEPH1_ENST00000392832.2_Missense_Mutation_p.H324Y	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	324						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAATATGGTGAAACGAATGC	0.473000													14	67					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408289	10408289	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10408289G>T	ENST00000226207.5	-	22	2623	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTTTTGAGGAGGGGTTTGA	0.463000													24	92					4.72057e-08	4.80579e-08	1	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:142795189C>T	ENST00000370498.1	-	2	1242	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	163										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502000													82	428					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40127730	40127730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40127730C>T	ENST00000181839.4	+	12	3640	c.3035C>T	c.(3034-3036)cCt>cTt	p.P1012L	CDK13_ENST00000340829.5_Missense_Mutation_p.P1012L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1012					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTCAGTCTCCCTTTATGGCAA	0.373000													10	37					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070848	14070848	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070848C>T	ENST00000254337.6	+	10	1514	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTGCTCCTGGCCTTCCCGTCC	0.657000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	28					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564132	37564132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37564132G>A	ENST00000300651.6	-	17	4565	c.4342C>T	c.(4342-4344)Ccc>Tcc	p.P1448S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1448	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1448A(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTATGGCTGGGAGAGCCACGC	0.488000										HNSCC(31;0.082)			21	69					0	0	1	0	0
FNTB	2342	broad.mit.edu	37	14	65453806	65453806	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65453806C>T	ENST00000246166.2	+	1	369	c.135C>T	c.(133-135)tcC>tcT	p.S45S	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTCACGTCCATAGAACAGG	0.667000													16	31					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059445	152059445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152059445G>A	ENST00000368806.1	-	3	777	c.713C>T	c.(712-714)cCa>cTa	p.P238L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	238							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTCTGGCTGGTTCATCTCC	0.453000													30	123					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158208	139158208	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139158208C>T	ENST00000395297.1	-	15	3704	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1178										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACCTGATTCTTTTCAGACA	0.428000										HNSCC(54;0.14)			16	130					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64796332	64796332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:64796332G>A	ENST00000422803.1	+	4	2508	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	AFTPH_ENST00000238856.4_Missense_Mutation_p.G732R|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Missense_Mutation_p.G732R|AFTPH_ENST00000238855.7_Missense_Mutation_p.G732R|AFTPH_ENST00000409183.1_Missense_Mutation_p.G363R			Q6ULP2	AFTIN_HUMAN	aftiphilin	732					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCCTCCTTGGGAATAGACAC	0.423000													39	65					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176797953	176797953	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:176797953C>A	ENST00000408923.3	+	11	1363	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	392	Necessary for interaction with RABGEF1 (By similarity).|RBD 2.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCCAAGCCCACCAAGCGG	0.711000													3	31					1	1	1	1	0
SFRP1	6422	broad.mit.edu	37	8	41164271	41164271	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:41164271T>A	ENST00000379845.3	-	1	238	c.106A>T	c.(106-108)Act>Tct	p.T36S	SFRP1_ENST00000220772.3_Intron			Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	0					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TGGAGGTGAGTGAGGACGGTT	0.602000													4	27					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417195	105417195	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105417195G>A	ENST00000333244.5	-	7	4712	c.4593C>T	c.(4591-4593)tcC>tcT	p.S1531S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1531						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.642000													19	197					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033026	37033026	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:37033026T>C	ENST00000322716.5	-	1	1769	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	515						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTCCAAAGATTAGTGTTTGCC	0.383000													6	13					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	806556	806556	+	Splice_Site	SNP	G	G	A	rs150400507	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:806556G>A	ENST00000356948.6	+	10	1542	c.1119_splice	c.e10+1	p.E373_splice	PTBP1_ENST00000349038.4_Splice_Site_p.E347_splice|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Splice_Site_p.E366_splice	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	347	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCAACCCAGAGGTACGTGGGC	0.701000													4	8					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128957966	128957966	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:128957966A>C	ENST00000274487.4	+	10	1822	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGCTGCCAGGGATGACAT	0.468000													7	51					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208459	153208459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153208459G>A	ENST00000393700.3	-	6	615	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Nonsense_Mutation_p.Q165*|RENBP_ENST00000412763.1_Nonsense_Mutation_p.Q179*	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	179					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCCTGGAGCTGGGGCCGGCCC	0.692000													10	36					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356873	220356873	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220356873G>A	ENST00000312358.7	+	40	9634	c.9502G>A	c.(9502-9504)Gaa>Aaa	p.E3168K	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3168	Protein kinase 2.				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)		AGACCCCCAGGAAACGGAGGC	0.582000													13	32					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294626	5294626	+	Silent	SNP	G	G	A	rs144778137	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294626G>A	ENST00000546004.1	-	2	636	c.390C>T	c.(388-390)tcC>tcT	p.S130S	PROKR2_ENST00000217270.3_Silent_p.S130S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTAGTTGACGGAGGCACAGA	0.612000										HNSCC(71;0.22)			12	55					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48528921	48528921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48528921C>T	ENST00000435803.1	+	48	13295	c.13271C>T	c.(13270-13272)aCt>aTt	p.T4424I	ABCA13_ENST00000544596.1_Missense_Mutation_p.T154I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4424					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTACCCCCTACTGTGGACTGG	0.343000													7	28					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859281	105859281	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859281C>T	ENST00000258456.1	+	1	1082	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	322						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCAACCCCATCGTCTACTGCT	0.547000													26	83					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89902144	89902144	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:89902144G>C	ENST00000534061.1	+	12	1556	c.1326G>C	c.(1324-1326)tcG>tcC	p.S442S	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.S409S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATCAACTCGGATTCATCTA	0.294000													8	73					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340726	160340726	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340726C>T	ENST00000302101.5	+	2	651	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	69	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gcgccggcgccggcgccgcgc	0.741000													7	10					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3079404	3079404	+	Silent	SNP	C	C	T	rs113579453		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3079404C>T	ENST00000573514.1	-	5	2553	c.363G>A	c.(361-363)aaG>aaA	p.K121K	CCDC64B_ENST00000572449.1_Silent_p.K328K|CCDC64B_ENST00000389347.4_Silent_p.K328K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	328										breast(1)|endometrium(2)|large_intestine(1)	4						GGCTGGACGCCTTTCGGGTCT	0.592000													6	24					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117927	79117927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117927G>A	ENST00000442371.1	+	3	1569	c.630G>A	c.(628-630)tgG>tgA	p.W210*	GCNT1_ENST00000536223.1_Nonsense_Mutation_p.W210*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.W210*|GCNT1_ENST00000376730.4_Nonsense_Mutation_p.W210*	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	210	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCAAACTGGAAGTACTTGA	0.438000													18	89					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117759	79117759	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117759G>A	ENST00000442371.1	+	3	1401	c.462G>A	c.(460-462)gtG>gtA	p.V154V	GCNT1_ENST00000536223.1_Silent_p.V154V|GCNT1_ENST00000444201.2_Silent_p.V154V|GCNT1_ENST00000376730.4_Silent_p.V154V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	154	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GCATTCATGTGGACACAAAAT	0.428000													42	70					0	0	1	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047180	23047180	+	RNA	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:23047180A>T	ENST00000390307.2	+	0	282																											AGTGAGCGGTACCCTGGAATC	0.547000													19	28					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3977901	3977901	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3977901G>A	ENST00000309311.6	-	12	2071	c.1983C>T	c.(1981-1983)atC>atT	p.I661I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	661						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGTGAGGATGTTGGGGC	0.642000													16	63					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522670	97522670	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:97522670A>T	ENST00000375315.2	+	1	605	c.605A>T	c.(604-606)cAg>cTg	p.Q202L	C9orf3_ENST00000277198.2_Missense_Mutation_p.Q202L|C9orf3_ENST00000297979.5_Missense_Mutation_p.Q202L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	202					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGAGGGAGCAGTTAGACTAT	0.502000													16	66					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554682	52554682	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52554682G>A	ENST00000321725.6	+	54	5750	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1892					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGGGCTGGAGCCACCCTG	0.647000													25	60					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191169	152191169	+	Missense_Mutation	SNP	G	G	A	rs144088764		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152191169G>A	ENST00000368801.2	-	3	3011	c.2936C>T	c.(2935-2937)tCg>tTg	p.S979L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					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)			GCTGGAAGACGAACCTGAGCT	0.577000													62	252					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135292093	135292093	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135292093C>T	ENST00000285968.6	+	22	3195	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1057					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						GCGAGAATCTCCTCAGCTGGC	0.502000													10	44					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33261697	33261697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33261697G>A	ENST00000444031.2	-	11	1398	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	RGL2_ENST00000437840.2_Intron|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000497454.1_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CAAACTCCTGGGAAGGAGCCC	0.557000													22	105					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79477847	79477847	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477847G>A	ENST00000575842.1	-	5	1423	c.997C>T	c.(997-999)Cca>Tca	p.P333S	ACTG1_ENST00000575087.1_Missense_Mutation_p.P333S|ACTG1_ENST00000331925.2_Missense_Mutation_p.P333S|ACTG1_ENST00000573283.1_Missense_Mutation_p.P333S			P63261	ACTG_HUMAN	actin, gamma 1	333					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGCGCTCTGGGGGTGCGATG	0.627000													46	47					0	0	1	0	0
METTL21A	151194	broad.mit.edu	37	2	208486555	208486555	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:208486555C>T	ENST00000411432.1	-	3	450	c.234G>A	c.(232-234)ctG>ctA	p.L78L	METTL21A_ENST00000272839.3_Silent_p.L78L|METTL21A_ENST00000458426.1_Silent_p.L78L|METTL21A_ENST00000432416.1_Silent_p.L78L|METTL21A_ENST00000426075.1_Silent_p.L78L|METTL21A_ENST00000425132.1_Silent_p.L78L|METTL21A_ENST00000448007.2_Silent_p.L78L|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000442521.1_Silent_p.L78L|METTL21A_ENST00000406927.2_Silent_p.L78L	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	78						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTATGCCCACCAGCCCCGTGC	0.557000													9	67					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991948	112991948	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:112991948C>T	ENST00000495514.1	+	8	1698	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	BOC_ENST00000355385.3_Silent_p.L332L|BOC_ENST00000273395.4_Silent_p.L332L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	332	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTATCCCAGCTGGTCATCCC	0.632000													22	61					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306677	175306677	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:175306677C>T	ENST00000367674.1	-	19	4229	c.3521G>A	c.(3520-3522)gGg>gAg	p.G1174E	TNR_ENST00000263525.2_Missense_Mutation_p.G1174E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal.				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)					CCAGCCGCCCCCGTCGGTGGT	0.502000													19	34					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704511	33704511	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:33704511G>A	ENST00000269187.5	-	3	1155	c.942C>T	c.(940-942)atC>atT	p.I314I	SLC39A6_ENST00000590986.1_Silent_p.I314I|SLC39A6_ENST00000440549.2_Silent_p.I39I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	314						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTTTGGAGGGATTTCAGCCT	0.343000													15	62					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219208288	219208288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219208288G>A	ENST00000273077.4	+	8	898	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PNKD_ENST00000436005.2_Missense_Mutation_p.D223N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.D259N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	283						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTAGGGGATGACACCCT	0.632000													6	13					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632800	32632800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:32632800G>A	ENST00000242310.4	-	1	2867	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	926					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGCAAAAAAGGATTTCTCAC	0.453000													16	131					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128411004	128411004	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128411004G>A	ENST00000368227.3	-	8	1662	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PTPRK_ENST00000368210.3_Silent_p.F432F|PTPRK_ENST00000368213.5_Silent_p.F432F|PTPRK_ENST00000368226.4_Silent_p.F432F|PTPRK_ENST00000368215.3_Silent_p.F432F|PTPRK_ENST00000532331.1_Silent_p.F432F|PTPRK_ENST00000368207.3_Silent_p.F432F|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	432	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483000													16	66					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133656	118133656	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118133656G>A	ENST00000278937.2	-	2	343	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MPZL2_ENST00000438295.2_Missense_Mutation_p.P72L|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	72	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AAACTGCTCAGGTCCCCCGTC	0.438000													73	158					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504804	56504804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56504804G>A	ENST00000370754.5	-	18	2442	c.2443C>T	c.(2443-2445)Cat>Tat	p.H815Y	DST_ENST00000370769.4_Missense_Mutation_p.H637Y|DST_ENST00000370788.2_Missense_Mutation_p.H637Y|DST_ENST00000361203.3_Missense_Mutation_p.H637Y|DST_ENST00000446842.2_Missense_Mutation_p.H311Y|DST_ENST00000518935.1_Missense_Mutation_p.H311Y|DST_ENST00000312431.6_Missense_Mutation_p.H637Y|DST_ENST00000370765.6_Missense_Mutation_p.H311Y|DST_ENST00000244364.6_Missense_Mutation_p.H311Y|DST_ENST00000421834.2_Missense_Mutation_p.H637Y			Q03001	DYST_HUMAN	dystonin	637					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCTAAATGGCTTTCAACA	0.313000													18	70					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88061239	88061239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:88061239C>T	ENST00000393207.1	+	8	1243	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	BANP_ENST00000286122.7_Missense_Mutation_p.S341F|BANP_ENST00000393208.2_Missense_Mutation_p.S310F|BANP_ENST00000355022.4_Missense_Mutation_p.S310F|BANP_ENST00000538234.1_Missense_Mutation_p.S349F|BANP_ENST00000479780.2_Missense_Mutation_p.S310F|BANP_ENST00000355163.5_Missense_Mutation_p.S316F	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	341	Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCAACTCGTCCTCCTACTGC	0.697000													6	71					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812599	49812599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49812599C>T	ENST00000454748.3	-	6	1147	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	SLC6A16_ENST00000335875.4_Missense_Mutation_p.E316K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	316						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTTGCCCCTTCCAGGAGTAGA	0.507000													6	37					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003886	122003886	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003886G>A	ENST00000498619.1	+	7	3553	c.3115G>A	c.(3115-3117)Gaa>Aaa	p.E1039K	CASR_ENST00000296154.5_Missense_Mutation_p.E1029K|CASR_ENST00000490131.1_Missense_Mutation_p.E1029K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1029					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACCGTCCAGGAAACAGGTCT	0.587000													8	60					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31185183	31185183	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31185183C>T	ENST00000458591.2	+	20	1910	c.1683_splice	c.e20+1	p.P561_splice	SCFD1_ENST00000421551.3_Splice_Site_p.P502_splice|SCFD1_ENST00000541123.1_Splice_Site_p.P376_splice|SCFD1_ENST00000396629.2_Splice_Site_p.P469_splice|SCFD1_ENST00000544052.2_Splice_Site_p.P494_splice	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	561					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCAAACCCCGTGAGTACCA	0.328000													9	86					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129292537C>T	ENST00000393239.1	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R			Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTTCCTTCCTCGGATGGTC	0.657000													7	20					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892419	219892419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219892419G>A	ENST00000341552.5	-	13	2247	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	CCDC108_ENST00000453220.1_Missense_Mutation_p.P722S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722S|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711S|CCDC108_ENST00000410037.1_Missense_Mutation_p.P657S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAGTTGGGGTGAGGCGGC	0.612000													14	83					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18675895	18675895	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:18675895C>T	ENST00000380548.4	+	10	1465	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P376S|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P376S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	376	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCTACCATCCCCTTCCTCG	0.368000													11	46					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934474	56934474	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934474C>T	ENST00000333201.9	+	5	657	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF583_ENST00000291598.7_Silent_p.I149I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATAAAGAAATCCTTCCAGAAG	0.363000													16	114					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899488	233899488	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:233899488C>T	ENST00000233840.3	+	2	864	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	288							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGCCTGGCTCCCCAGCCCAGT	0.697000													9	46					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755382	146755382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:146755382G>A	ENST00000361719.2	+	9	3505	c.3035G>A	c.(3034-3036)gGc>gAc	p.G1012D	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.G1012D|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1012					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTCCCCAAGGGCTTGCCCCCT	0.667000													26	105					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680458	216680458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216680458C>T	ENST00000391890.3	-	9	1669	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ESRRG_ENST00000361395.2_Silent_p.Q377Q|ESRRG_ENST00000366937.1_Silent_p.Q412Q|ESRRG_ENST00000359162.2_Silent_p.Q377Q|ESRRG_ENST00000366938.2_Silent_p.Q377Q|ESRRG_ENST00000366940.2_Silent_p.Q377Q|ESRRG_ENST00000361525.3_Silent_p.Q377Q|ESRRG_ENST00000463665.1_Silent_p.Q338Q|ESRRG_ENST00000487276.1_Silent_p.Q377Q|ESRRG_ENST00000408911.3_Silent_p.Q400Q|ESRRG_ENST00000360012.3_Silent_p.Q377Q|ESRRG_ENST00000493748.1_Silent_p.Q377Q|ESRRG_ENST00000493603.1_Silent_p.Q377Q	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	400					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATAATCCTGCAGCGCTT	0.498000													14	51					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57569840	57569840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57569840C>T	ENST00000243077.3	+	24	4408	c.3942C>T	c.(3940-3942)acC>acT	p.T1314T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1314					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTGGACCGACGTGGTGG	0.632000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	91					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122662636	122662636	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662636G>A	ENST00000263461.6	+	23	3069	c.2823G>A	c.(2821-2823)caG>caA	p.Q941Q	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	941						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTTATCCCAGGAAAAGTCAG	0.502000													6	37					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244922	134244922	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:134244922C>T	ENST00000535456.2	+	19	2069	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.P627P|GLB1L2_ENST00000339772.7_Silent_p.P627P	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	627					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGGAAACCCCCCACCTGGGCA	0.627000													7	16					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077597	56077597	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077597G>A	ENST00000394252.3	+	2	708	c.498_splice	c.e2-1	p.G167_splice		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TCCCTCCCAGGGAGGTGTGCT	0.527000													11	77					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640991	6640991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6640991G>A	ENST00000377674.4	+	2	480	c.322G>A	c.(322-324)Gta>Ata	p.V108I		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	108						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGAGGCCGTAGAGCTGTG	0.607000													6	30					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482070	38482070	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:38482070T>G	ENST00000263409.4	-	20	3083	c.2921A>C	c.(2920-2922)tAc>tCc	p.Y974S	LIFR_ENST00000453190.2_Missense_Mutation_p.Y974S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	974					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACATCAATGTAAATAACCTG	0.473000			T	PLAG1	salivary adenoma								37	134					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475391	17475391	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:17475391C>T	ENST00000377873.3	-	8	1365	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	BFSP1_ENST00000536626.1_Silent_p.G303G|BFSP1_ENST00000377868.2_Silent_p.G317G|BFSP1_ENST00000544874.1_Silent_p.G303G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	442	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGTATAGTTTCCCAAAGCCTT	0.507000													34	202					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513343	119513343	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:119513343C>T	ENST00000218008.3	+	8	985	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.P267S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P306S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	310					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.P306T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTACACATCCCCCTTGGTGGC	0.473000													67	139					0	0	1	0	0
GPX7	2882	broad.mit.edu	37	1	53074034	53074034	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074034G>A	ENST00000361314.4	+	3	539	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	167					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CAGTGGAGGAGGTCAGACCCC	0.572000													12	67					0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23557177	23557177	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrY:23557177C>T	ENST00000444169.1	-	0	390					NR_001574.2																						ATGAGAGGTCCCTGCAGGGTT	0.423000													9	13					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866245	166866245	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:166866245C>T	ENST00000423058.2	-	20	4003	c.3986G>A	c.(3985-3987)cGa>cAa	p.R1329Q	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1329Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1301Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1318Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1329						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1318Q(1)		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)	CCCTTCAAATCGAGATAAGGC	0.363000													31	32					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936417	209936417	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936417G>A	ENST00000367024.1	+	6	1072	c.556G>A	c.(556-558)Gga>Aga	p.G186R	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G186R|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G166R|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G166R|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G166R			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	186						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTCCAGTTACGGAGTTGCAGT	0.408000													5	46					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053076	17053076	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:17053076G>A	ENST00000262096.8	+	4	1011	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	106						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGCCCATCAGGAAGTTCTTAG	0.408000													13	62					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520304	62520304	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520304G>A	ENST00000394807.3	-	2	1108	c.983C>T	c.(982-984)cCa>cTa	p.P328L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ggctgacgttggggctgaggc	0.587000													12	69					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150690369	150690369	+	Missense_Mutation	SNP	C	C	T	rs111033434		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150690369C>T	ENST00000327047.1	-	1	417	c.127G>A	c.(127-129)Gga>Aga	p.G43R	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G43R	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	43					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGAGCTCCCGTTTTGCAG	0.547000													26	102					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39664427	39664427	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39664427C>T	ENST00000599386.1	+	4	597	c.416C>T	c.(415-417)cCa>cTa	p.P139L	PAK4_ENST00000593690.1_Missense_Mutation_p.P292L|PAK4_ENST00000358301.3_Missense_Mutation_p.P292L|PAK4_ENST00000435673.2_Missense_Mutation_p.P292L|PAK4_ENST00000360442.3_Missense_Mutation_p.P292L|PAK4_ENST00000321944.4_Missense_Mutation_p.P202L|PAK4_ENST00000599470.1_Missense_Mutation_p.P139L	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	292	Linker.		A -> T (in dbSNP:rs35655056).		cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCGCTCACCACAGCGGGAG	0.711000													6	10					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570168	25570168	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:25570168A>G	ENST00000269141.3	-	10	1914	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	CDH2_ENST00000399380.3_Silent_p.F466F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	497	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATTGGGGGCAAAATAAGGGT	0.458000													18	59					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15834210	15834210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:15834210G>A	ENST00000281172.5	-	3	522	c.86C>T	c.(85-87)tCc>tTc	p.S29F	EPS8_ENST00000543523.1_Missense_Mutation_p.S29F|EPS8_ENST00000543612.1_Missense_Mutation_p.S29F	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	29					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTCCGTCTGGGAAAAGGTAGG	0.313000													25	123					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477752	6477752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6477752C>T	ENST00000525074.1	-	6	1598	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	TRIM3_ENST00000345851.3_Missense_Mutation_p.V402M|TRIM3_ENST00000537602.1_Missense_Mutation_p.V324M|TRIM3_ENST00000536344.1_Missense_Mutation_p.V283M|TRIM3_ENST00000359518.3_Missense_Mutation_p.V402M|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	402					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCAGCACCGAGAGGAGC	0.677000													5	14					0	0	1	0	0
C15orf48	84419	broad.mit.edu	37	15	45723009	45723009	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45723009A>G	ENST00000344300.3	+	1	205	c.15A>G	c.(13-15)caA>caG	p.Q5Q	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Silent_p.Q5Q	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	5						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		GCTTTTTCCAACTCCTGATGA	0.368000											OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21395193	21395193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21395193G>A	ENST00000313654.9	+	16	2171	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E644K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	644	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAACTGGAGAGTGTAGGCA	0.493000													5	13					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3109443	3109443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3109443G>A	ENST00000263650.7	-	22	2791	c.2632C>T	c.(2632-2634)Ctc>Ttc	p.L878F	OSBPL5_ENST00000478260.1_Missense_Mutation_p.L332F|OSBPL5_ENST00000389989.3_Missense_Mutation_p.L810F|OSBPL5_ENST00000348039.5_Missense_Mutation_p.L810F|OSBPL5_ENST00000525498.1_Missense_Mutation_p.L789F|OSBPL5_ENST00000542243.1_Missense_Mutation_p.L509F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	878					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)		TCCTATTTGAGGATGTGGTTA	0.642000													7	19					0	0	1	0	0
TFB1M	51106	broad.mit.edu	37	6	155618126	155618126	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155618126T>C	ENST00000367166.4	-	4	562	c.507A>G	c.(505-507)agA>agG	p.R169R		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCATCTGAGTTCTGCCATAAA	0.323000													16	29					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801297	9801297	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9801297T>C	ENST00000457674.2	-	5	1400	c.882A>G	c.(880-882)caA>caG	p.Q294Q	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTTACATGTTGAGTAAGGT	0.408000													21	89					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11526779	11526779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11526779C>T	ENST00000380456.3	-	5	534	c.471G>A	c.(469-471)caG>caA	p.Q157Q	RGL3_ENST00000393423.3_Silent_p.Q157Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	157	N-terminal Ras-GEF.				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						CTCGGAAATCCTGAGGGTGGT	0.627000													10	30					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901080	24901080	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24901080G>A	ENST00000251343.5	+	3	752	c.613G>A	c.(613-615)Gca>Aca	p.A205T	KHNYN_ENST00000553935.1_Missense_Mutation_p.A205T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A205T			O15037	KHNYN_HUMAN	KH and NYN domain containing	205										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGGCCAGGAGCACTGGCTTC	0.652000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	105					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103246621	103246621	+	Missense_Mutation	SNP	C	C	T	rs62507286		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:103246621C>T	ENST00000553106.1	-	7	1286	c.814G>A	c.(814-816)Gga>Aga	p.G272R	PAH_ENST00000307000.2_Missense_Mutation_p.G267R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	272					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)	GGCTTGGATCCATGTCTGATG	0.562000													51	87					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742148	1742148	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1742148C>T	ENST00000381241.3	+	2	385	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ASMT_ENST00000381229.4_Silent_p.L62L|ASMT_ENST00000381233.3_Silent_p.L62L	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	62					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				GGACAGAGCTCCTGCTGGACA	0.617000													7	85					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40659297	40659297	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40659297G>A	ENST00000267889.3	+	8	1071	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	328					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGTGCCAGCGGACAGCAGCCA	0.637000													9	49					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058637	5058637	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5058637G>A	ENST00000251170.7	+	14	1968	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	596	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCGGGAGGGGGAGAGCATCC	0.627000													36	64					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495560	45495560	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45495560G>A	ENST00000541297.2	+	13	2048	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	CLPTM1_ENST00000546079.1_Missense_Mutation_p.R440H|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R542H			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	542					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCCCTGGCGCATGCTCACC	0.567000													4	107					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179576913	179576913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179576913G>A	ENST00000467460.1	-	8	1089	c.759C>T	c.(757-759)agC>agT	p.S253S	PEX5L_ENST00000465751.1_Silent_p.S229S|PEX5L_ENST00000464614.1_Silent_p.S145S|PEX5L_ENST00000476138.1_Silent_p.S210S|PEX5L_ENST00000472994.1_Silent_p.S194S|PEX5L_ENST00000263962.8_Silent_p.S251S|PEX5L_ENST00000392649.3_Silent_p.S145S|PEX5L_ENST00000485199.1_Silent_p.S218S|PEX5L_ENST00000468741.1_Silent_p.S61S|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	253					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTAATGCGCTTCCCCAGC	0.368000													23	80					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102825319	102825319	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102825319G>A	ENST00000260302.3	-	3	407	c.379C>T	c.(379-381)Cct>Tct	p.P127S	MMP13_ENST00000340273.4_Missense_Mutation_p.P127S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	127					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCATATCAGGGGTGTAATTC	0.343000													23	61					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77746178	77746178	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77746178C>T	ENST00000261534.4	-	18	2081	c.1879G>A	c.(1879-1881)Gcg>Acg	p.A627T		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	627					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GCAACCTCCGCTGGCAGCCGT	0.657000													5	26					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574958	28574958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:28574958C>T	ENST00000220562.4	+	3	2284	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	EXTL3_ENST00000523149.1_Missense_Mutation_p.P77L|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	461						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGTGCCGTCCCGGTGGTGCTG	0.622000													15	32					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157613	155157613	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155157613C>T	ENST00000357232.3	-	25	6825	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2276	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATTTTTTCATAATCCAGA	0.343000													15	76					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31869219C>T	ENST00000334058.2	-	1	232	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408000													33	101					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623462	137623462	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137623462G>A	ENST00000371817.3	+	8	1699	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	429	Nonhelical 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)		CTCCCCGTCGGAGATCGGGCC	0.632000													20	150					0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217542855	217542855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:217542855C>T	ENST00000233813.4	-	3	1416	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	223	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTAGAATCCTTTGCGGTCA	0.602000													10	63					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484379	43484379	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484379C>T	ENST00000395891.1	+	11	2213	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	HECW1_ENST00000453890.1_Silent_p.S536S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	536					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						GGCCCTGCTCCTTGCCTGTGT	0.647000													4	29					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123812357	123812357	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123812357C>A	ENST00000420886.2	-	11	1434	c.1435G>T	c.(1435-1437)Gct>Tct	p.A479S	SBNO1_ENST00000267176.4_Missense_Mutation_p.A478S|SBNO1_ENST00000602750.1_Missense_Mutation_p.A478S|SBNO1_ENST00000602398.1_Missense_Mutation_p.A479S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	479							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTTCAGAAGCACCTGAAAAT	0.343000													13	79					0.00010058	0.000101669	1	1	0
HGF	3082	broad.mit.edu	37	7	81381563	81381563	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381563G>A	ENST00000457544.2	-	5	559	c.482_splice	c.e5-1	p.S161_splice	HGF_ENST00000222390.5_Silent_p.S166S|HGF_ENST00000453411.1_Splice_Site_p.S161_splice|HGF_ENST00000423064.2_Silent_p.S166S|HGF_ENST00000444829.2_Silent_p.S166S	NM_001010932.1	NP_001010932.1	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	161	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACCCCGATAGCTCGAAGGCA	0.398000													8	74					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48542476	48542476	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:48542476G>A	ENST00000358350.4	-	46	6793	c.6189C>T	c.(6187-6189)ttC>ttT	p.F2063F	FRYL_ENST00000503238.1_Silent_p.F2063F|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.F2063F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2063					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AACCCTTAAGGAAGAGCTGCT	0.398000													21	89					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49539417	49539417	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49539417G>A	ENST00000301407.7	-	2	257	c.153C>T	c.(151-153)atC>atT	p.I51I	CGB1_ENST00000391869.3_Silent_p.I51I|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	83						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGCCGGCACAGATGGTGGTGT	0.687000													23	141					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62651938	62651938	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62651938G>A	ENST00000377892.1	+	8	1320	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	SLC3A2_ENST00000535296.1_Missense_Mutation_p.E304K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E234K|SLC3A2_ENST00000377891.2_Missense_Mutation_p.E336K|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E273K|SLC3A2_ENST00000377890.2_Missense_Mutation_p.E335K			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	335					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGATGCTCTGGAGTTTTGGCT	0.502000											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	120					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945927	53945927	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53945927C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCCAGCCTGCCCGAAGCTGAC	0.557000													36	24					0	0	1	0	0
MRPL33	9553	broad.mit.edu	37	2	28002382	28002382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:28002382G>T	ENST00000379666.3	+	3	185	c.124G>T	c.(124-126)Gag>Tag	p.E42*	MRPL33_ENST00000296102.3_3'UTR|MRPL33_ENST00000483992.1_3'UTR|AC110084.1_ENST00000601759.1_Intron	NM_145330.2	NP_663303.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					GATTTATAAAGAGAAGACTGA	0.403000													51	103					7.90463e-13	8.11754e-13	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992618	43992618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43992618C>T	ENST00000282406.4	+	30	4473	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1455						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAGCATTTCACCACCTCTC	0.483000													23	74					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65000798	65000798	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65000798C>T	ENST00000525437.1	+	0	1259							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCATCCTGGCCGGGCTCATGG	0.607000													10	15					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574508	142574508	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142574508C>T	ENST00000359396.3	-	5	815	c.570G>A	c.(568-570)cgG>cgA	p.R190R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	190					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGTCCTGGGCCCGGATGTCAG	0.607000													22	58					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	865					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTCAGCTCGAAGACCTGGG	0.468000													31	46					1.55811e-20	1.6185e-20	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922337	24922337	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922337C>T	ENST00000329468.2	+	1	1797	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCTGCCTATCCCTCCACTTT	0.532000													18	75					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866195	131866195	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131866195G>T	ENST00000359827.3	-	18	4399	c.3437C>A	c.(3436-3438)gCc>gAc	p.A1146D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1146D			Q9HCM2	PLXA4_HUMAN	plexin A4	1146	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACCAAAGGCCTCAAACAC	0.582000													57	115					1.00798e-23	1.04906e-23	1	1	0
WDR11	55717	broad.mit.edu	37	10	122662637	122662637	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662637G>A	ENST00000263461.6	+	23	3070	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	942						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTTATCCCAGGAAAAGTCAGC	0.502000													6	38					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3980240	3980240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3980240G>A	ENST00000381638.2	-	20	3157	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1011							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGAGAAAAGGGATTCCAAAA	0.368000													10	44					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744384	76744384	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744384C>T	ENST00000369963.3	-	2	377	c.188G>A	c.(187-189)gGa>gAa	p.G63E	IMPG1_ENST00000369950.3_Missense_Mutation_p.G141E			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	141					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G141E(1)		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)				GAAGTTTTTTCCAATGTCAAA	0.507000													23	86					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106814	90106814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90106814G>A	ENST00000405460.2	+	74	15833	c.15737G>A	c.(15736-15738)cGa>cAa	p.R5246Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R907Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5246					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)		GTTCTTATCCGAAGAACTGGT	0.418000													12	68					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45004019	45004019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45004019G>A	ENST00000258787.7	-	19	2762	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	876						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTAACCTTGCGGACATGGCTT	0.527000													19	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486278	179486278	+	Silent	SNP	G	G	A	rs72677223		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179486278G>A	ENST00000589042.1	-	245	45497	c.45273C>T	c.(45271-45273)aaC>aaT	p.N15091N	TTN_ENST00000591111.1_Silent_p.N13450N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N6026N|TTN_ENST00000342992.6_Silent_p.N12523N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.N6151N|TTN_ENST00000342175.6_Silent_p.N6218N|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13450	Fibronectin type-III 9.						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)			CAAGGTGAGCGTTCTGAATGA	0.443000													9	67					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33109733	33109733	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109733G>A	ENST00000307363.5	-	4	590	c.446C>T	c.(445-447)tCc>tTc	p.S149F	GLB1_ENST00000399402.3_Missense_Mutation_p.S119F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Missense_Mutation_p.S197F	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	149			S -> F (in MPS4B; 2.0% of wild-type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGGTCGGAGGAGCGGAGAAG	0.488000													15	51					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116631629	116631629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:116631629G>A	ENST00000260210.4	-	5	1099	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	BUD13_ENST00000375445.3_Missense_Mutation_p.P225L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	359										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTATGCCGTGGAGAAGAAAG	0.478000													14	65					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319226	31319226	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31319226G>A	ENST00000269197.5	+	11	1858	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGCCCAGAGGGAGCCTGTAC	0.483000													6	13					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93645820	93645820	+	Translation_Start_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:93645820G>A	ENST00000343253.7	+	0	345				TMED5_ENST00000479918.1_5'UTR|TMED5_ENST00000370282.3_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCGATCCCGGGCTGAAAGAGG	0.642000													3	14					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993969	45993969	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45993969C>T	ENST00000400374.3	+	1	364	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	112	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGCTGCGTGCCCGTCTGCTG	0.637000													11	67					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089231	42089231	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:42089231C>T	ENST00000244020.3	+	5	773	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	223	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CTCAAAAAGTCGCTCCCGGTA	0.418000													15	63					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139338337	139338337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139338337G>A	ENST00000313050.7	-	29	7016	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	SEC16A_ENST00000371706.3_Missense_Mutation_p.P2092S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2112S|SEC16A_ENST00000313084.5_Missense_Mutation_p.P343S|SEC16A_ENST00000467838.1_5'UTR|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2117S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2137					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)		CCTGCAGCAGGGAGGTCGCCA	0.612000													4	44					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54969816	54969816	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54969816G>T	ENST00000243052.3	+	13	1744	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.L416L|PDE1B_ENST00000538346.1_Silent_p.L395L|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	436	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCTCTGTGCTGACTGACGTGG	0.542000													28	111					1.55811e-20	1.6185e-20	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22005385	22005385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:22005385C>T	ENST00000261200.4	-	21	2559	c.2560G>A	c.(2560-2562)Ggg>Agg	p.G854R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G818R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G854R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	854	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCAAAATCCCCTCCTGCATT	0.413000													41	40					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52639267	52639267	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639267C>T	ENST00000331817.5	+	7	1239	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	352	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		ATGCTCGTGCCAAGCAGGAGG	0.652000													8	62					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240329	27240329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27240329G>A	ENST00000254227.3	-	1	128	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	35					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCTACGGGGTCGGGGGACA	0.662000													6	41					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396760	154396760	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:154396760G>T	ENST00000435029.4	+	1	3501	c.3341G>T	c.(3340-3342)tGt>tTt	p.C1114F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1114	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GACTGTAGCTGTGACCCCACA	0.547000													9	57					0.0477658	0.0480141	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69682215	69682215	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682215G>C	ENST00000265403.7	+	1	505	c.478G>C	c.(478-480)Gct>Cct	p.A160P	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAGCTGCTGGCTGAGCTATT	0.393000													47	112					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34072528	34072528	+	Missense_Mutation	SNP	C	C	T	rs61996335	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072528C>T	ENST00000389232.4	+	65	9324	c.9254C>T	c.(9253-9255)cCc>cTc	p.P3085L	RYR3_ENST00000415757.3_Missense_Mutation_p.P3085L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3085					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)		ACCAAAACCCCCAGGGAGAGG	0.562000													4	28					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181734	47181734	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:47181734G>A	ENST00000447411.1	-	4	497	c.291C>T	c.(289-291)tcC>tcT	p.S97S	SLC38A4_ENST00000266579.4_Silent_p.S97S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	97					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCATGGCATAGGACAAGCCCA	0.428000													34	57					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182646	112182646	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182646C>T	ENST00000455480.2	+	14	2184	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.S638S|ACAD10_ENST00000392636.2_Silent_p.S240S|ACAD10_ENST00000313698.4_Silent_p.S638S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	638							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						GTTATAGCTCCGTTCCAGAAG	0.567000													14	63					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376138	52376138	+	Missense_Mutation	SNP	G	G	A	rs139133866		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52376138G>A	ENST00000420592.1	-	6	2261	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ZNF577_ENST00000451628.2_Missense_Mutation_p.L310F|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.L369F|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTTAATGAGGACTGACATG	0.448000													35	99					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599353	29599353	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599353G>A	ENST00000431530.3	+	1	606	c.548G>A	c.(547-549)aGg>aAg	p.R183K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	173						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGAACTGAGGAGGCATTCT	0.542000													14	73					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146171451	146171451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:146171451G>A	ENST00000276816.4	-	3	328	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P48S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTACAGCAGGGGGTACCACAG	0.587000													7	80					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901389	4901389	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4901389G>A	ENST00000404991.1	-	1	236	c.50C>T	c.(49-51)cCg>cTg	p.P17L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	17					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTAGCGATTCGGCGGCGGCGC	0.672000													9	13					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538433	4538433	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4538433G>A	ENST00000306390.6	-	2	1023	c.563C>T	c.(562-564)aCc>aTc	p.T188I	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	188						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGGAGGGTGAAGTTGGC	0.622000													46	149					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7918202	7918202	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7918202G>A	ENST00000254854.4	+	14	2752	c.2602G>A	c.(2602-2604)Ggg>Agg	p.G868R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	868					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTGAAGACGGGGACACCAGT	0.597000													33	26					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887690	9887690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9887690C>T	ENST00000306084.6	+	2	1413	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P338L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	405	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						ATTGACATCCCCAAGTCCCCA	0.547000													11	75					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859166	105859166	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859166C>T	ENST00000258456.1	+	1	967	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGCCCCACTCCGTCTACAGC	0.587000													44	149					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235226	21235226	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21235226C>A	ENST00000233242.1	-	26	4641	c.4514G>T	c.(4513-4515)tGt>tTt	p.C1505F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1505					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)	ATCCCTCTGACAAGACAGGCC	0.458000													11	58					1.61879e-10	1.65736e-10	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52676029	52676029	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52676029G>A	ENST00000356770.4	-	9	934	c.932C>T	c.(931-933)tCa>tTa	p.S311L	PBRM1_ENST00000410007.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409767.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409114.3_Missense_Mutation_p.S343L|PBRM1_ENST00000409057.1_Missense_Mutation_p.S343L|PBRM1_ENST00000296302.7_Missense_Mutation_p.S343L|PBRM1_ENST00000394830.3_Missense_Mutation_p.S343L|PBRM1_ENST00000337303.4_Missense_Mutation_p.S343L			Q86U86	PB1_HUMAN	polybromo 1	343					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTAATTGCTGATAAACGACC	0.368000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								37	144					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160849204	160849204	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160849204C>T	ENST00000326245.3	-	7	801	c.685_splice	c.e7-1	p.R229_splice	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	229	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTGAATTCCCCTGAAAACAA	0.493000													9	40					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54757158	54757158	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54757158T>C	ENST00000551809.1	-	1	1113	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	GPR84_ENST00000267015.3_Missense_Mutation_p.I160V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGTACCAGGATATAAATAGGC	0.567000													3	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090942	9090942	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9090942G>T	ENST00000397910.4	-	1	1076	c.873C>A	c.(871-873)ctC>ctA	p.L291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	291	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTATTATCGAGAACTGAAG	0.517000													50	72					5.85753e-14	6.03361e-14	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78953163	78953163	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:78953163C>T	ENST00000545128.1	+	34	5223	c.4685C>T	c.(4684-4686)tCc>tTc	p.S1562F		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	733					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						GCAGACAACTCCACTGGCCGG	0.502000													5	17					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817038	77817038	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77817038C>G	ENST00000334306.2	-	1	1964	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	655																	TCCCTGCCTTCTTTGCTCCAG	0.532000													23	110					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157065262	157065262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:157065262G>A	ENST00000265007.6	-	4	2197	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	SOX30_ENST00000519442.1_Missense_Mutation_p.P314L|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	619	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGTCCGGGTAGGAAGTA	0.433000													15	30					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35622772	35622772	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:35622772G>A	ENST00000540320.1	+	5	1330	c.796G>A	c.(796-798)Gat>Aat	p.D266N	NBEA_ENST00000310336.4_Missense_Mutation_p.D266N|NBEA_ENST00000400445.3_Missense_Mutation_p.D266N|NBEA_ENST00000379939.2_Missense_Mutation_p.D266N			Q8NFP9	NBEA_HUMAN	neurobeachin	266						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTTCGTATGGATCCATTAAA	0.318000													11	16					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77872358	77872358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77872358G>A	ENST00000380835.2	-	5	969	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	268					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAAGTGCACGGAGAGAAAGAG	0.468000													14	55					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425963	74425963	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74425963G>A	ENST00000361742.3	+	4	1637	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.G290R|ISLR2_ENST00000445793.1_Missense_Mutation_p.G290R|ISLR2_ENST00000435464.1_Missense_Mutation_p.G290R|ISLR2_ENST00000419208.1_Missense_Mutation_p.G290R|ISLR2_ENST00000453268.2_Missense_Mutation_p.G290R|ISLR2_ENST00000565540.1_Missense_Mutation_p.G290R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	290	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTTCTGAGCggggaggacga	0.637000													4	21					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	685749	685749	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:685749C>T	ENST00000304478.4	+	1	237	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	44					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGTTTCCTTCCGGAGAGGTG	0.657000													7	43					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457168	25457168	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457168C>T	ENST00000264709.3	-	23	3056	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	DNMT3A_ENST00000402667.1_Missense_Mutation_p.E684K|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E907K|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E718K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	907					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAATACTCCTTCAGCGGA	0.498000			"""Mis, F, N, S"""		AML								13	78					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26366380	26366380	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26366380G>A	ENST00000374278.3	-	6	930	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC30A2_ENST00000374276.3_Silent_p.F287F	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	238					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCTGTGAAGTCAACGC	0.617000													7	18					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133506164	133506164	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133506164G>A	ENST00000319725.9	+	13	1342	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	423					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTCATAGATGAGAAAGTTGG	0.567000													11	25					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60781393	60781393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60781393C>T	ENST00000313421.7	+	8	1480	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.L432F|CD6_ENST00000346437.4_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	432					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCCTCAGCCCTCCCCGTAAT	0.547000													10	27					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514449	149514449	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149514449C>T	ENST00000261799.4	-	4	964	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	165	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAACGTCCCCTTTCTTCT	0.507000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								44	98					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717484	13717484	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13717484C>T	ENST00000265104.4	-	73	12749	c.12645G>A	c.(12643-12645)gcG>gcA	p.A4215A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATTAAAGTCCGCTTGGTTAA	0.537000									Kartagener syndrome				4	28					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88586521	88586521	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586521C>T	ENST00000266712.6	+	13	2067	c.1847C>T	c.(1846-1848)gCc>gTc	p.A616V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCAAATGAAGCCCTAAAAAAC	0.343000													28	75					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278924	152278924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152278924C>T	ENST00000368799.1	-	3	8473	c.8438G>A	c.(8437-8439)gGg>gAg	p.G2813E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACCCTGAGTGTCC	0.572000									Ichthyosis				56	466					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9489658	9489658	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9489658A>G	ENST00000446085.4	+	7	586	c.54A>G	c.(52-54)gaA>gaG	p.E18E	ZNF177_ENST00000434737.2_Silent_p.E18E|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000343499.4_Silent_p.E18E|ZNF177_ENST00000590616.1_Silent_p.E18E|ZNF177_ENST00000602738.1_Silent_p.E18E|ZNF177_ENST00000602856.1_Silent_p.E18E|ZNF177_ENST00000589262.1_Silent_p.E18E|ZNF177_ENST00000541595.2_Silent_p.E18E			Q13360	ZN177_HUMAN	zinc finger protein 177	18	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CCTTCCAGGAAGTGGCAGTGG	0.463000													20	99					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35776293	35776293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35776293C>T	ENST00000400441.3	-	10	1093	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K	MROH8_ENST00000217333.8_Missense_Mutation_p.R245K|MROH8_ENST00000441008.2_Missense_Mutation_p.R351K					maestro heat-like repeat family member 8																		GTGTCCAAGTCTTTGGAATCG	0.478000													12	33					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655373	38655373	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38655373C>G	ENST00000222345.6	+	15	4544	c.4035C>G	c.(4033-4035)ggC>ggG	p.G1345G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1345					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692000													5	15					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22262322	22262322	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:22262322G>A	ENST00000381237.1	+	2	218	c.99G>A	c.(97-99)ctG>ctA	p.L33L	SLC39A14_ENST00000289952.5_Silent_p.L33L|SLC39A14_ENST00000359741.5_Silent_p.L33L|SLC39A14_ENST00000240095.6_Silent_p.L33L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	33			L -> P (in dbSNP:rs896378).			endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTTCATCCCTGGGTGCACCAG	0.602000													22	105					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53901735	53901735	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:53901735G>A	ENST00000396328.1	-	17	3166	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	WDR72_ENST00000360509.5_Missense_Mutation_p.S976F|WDR72_ENST00000559418.1_Missense_Mutation_p.S986F|WDR72_ENST00000557913.1_Missense_Mutation_p.S973F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	976										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTCCAACAGGAAATTAGCTT	0.388000													14	33					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037433	75037433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75037433C>T	ENST00000326665.5	-	14	4179	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1321	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTCCTTCCATGTCCCCG	0.562000													22	78					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61859073	61859073	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:61859073T>A	ENST00000577390.1	-	5	1632	c.678A>T	c.(676-678)aaA>aaT	p.K226N	CDH8_ENST00000577730.1_Missense_Mutation_p.K226N|CDH8_ENST00000299345.6_Missense_Mutation_p.K226N|CDH8_ENST00000584337.1_Missense_Mutation_p.K226N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	226	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAGGGCAGTTTTTATAATAG	0.448000													18	44					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203352	26203352	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26203352G>C	ENST00000264712.3	-	1	2014	c.1435C>G	c.(1435-1437)Cgc>Ggc	p.R479G	KIF3C_ENST00000405914.1_Missense_Mutation_p.R479G	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	479					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGGCTGCGGTCATCCTGG	0.607000													27	71					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62050171	62050171	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62050171G>A	ENST00000435607.1	-	1	107	c.31C>T	c.(31-33)Cct>Tct	p.P11S	SCN4A_ENST00000578147.1_Missense_Mutation_p.P11S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	11				VP -> AR (in Ref. 1; AAA60554).	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCAGAGGCACCAGGGTG	0.677000													10	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439624	179439624	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179439624G>A	ENST00000589042.1	-	326	71459	c.71235C>T	c.(71233-71235)acC>acT	p.T23745T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T22104T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T14680T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T21177T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.T14805T|TTN_ENST00000342175.6_Silent_p.T14872T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22104	Fibronectin type-III 72.						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)			CCCAAGAGAAGGTTACAAAAT	0.453000													14	18					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1674431	1674431	+	Missense_Mutation	SNP	C	C	T	rs148005190		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1674431C>T	ENST00000254722.4	+	4	555	c.392C>T	c.(391-393)gCc>gTc	p.A131V	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	131					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACGGTCACTGCCCCCCAGAAG	0.547000													11	43					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459342	87459342	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:87459342C>T	ENST00000338056.3	+	12	1830	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RUNDC3B_ENST00000493037.1_Silent_p.S407S|RUNDC3B_ENST00000394654.3_Silent_p.S456S	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	473										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAACTCCATCCTGAAAATTTT	0.348000													9	75					0	0	1	0	0
RAC3	5881	broad.mit.edu	37	17	79990328	79990328	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79990328C>T	ENST00000306897.4	+	2	239	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	34					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGTACATCCCCACCGTGTGA	0.677000													24	31					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784990	62784990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784990C>T	ENST00000280377.5	+	16	2072	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S	USP15_ENST00000393654.3_Missense_Mutation_p.P647S|USP15_ENST00000353364.3_Missense_Mutation_p.P643S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAGAACTTCCCTCAGAGAA	0.368000													7	49					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42733462	42733462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:42733462C>T	ENST00000379274.2	+	6	704	c.275C>T	c.(274-276)aCt>aTt	p.T92I	DGKH_ENST00000536612.1_Missense_Mutation_p.T92I|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.T228I|DGKH_ENST00000337343.4_Missense_Mutation_p.T228I|DGKH_ENST00000261491.4_Missense_Mutation_p.T228I			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	228	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)		TGTAAATGGACTACCCTGGCC	0.398000													5	22					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128036	117128036	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117128036G>A	ENST00000310357.3	-	3	853	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.L278L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	278					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTGCCTCAGAAATACCACA	0.353000													14	60					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47510497	47510497	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47510497G>A	ENST00000395290.2	-	1	79	c.70C>T	c.(70-72)Cca>Tca	p.P24S	CELF1_ENST00000532048.1_Missense_Mutation_p.P51S|CELF1_ENST00000310513.5_Missense_Mutation_p.P24S|CELF1_ENST00000395292.2_Missense_Mutation_p.P24S|CELF1_ENST00000358597.3_Missense_Mutation_p.P24S|CELF1_ENST00000361904.3_Missense_Mutation_p.P24S|CELF1_ENST00000531165.1_Missense_Mutation_p.P51S	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	24	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGGTCCTTGGAACCTGGCCC	0.483000													30	95					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453078	9453078	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9453078G>A	ENST00000393883.2	+	6	1599	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Silent_p.R317R|ZNF559_ENST00000587557.1_Silent_p.R381R|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.R237R|ZNF559_ENST00000592896.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTCACATAAGGGTTCACACTG	0.368000													6	53					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	rs140148307		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:20067628C>T	ENST00000400230.2	-	2	69	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358000													30	112					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894355	123894355	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123894355G>A	ENST00000375024.1	+	1	636	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GCTTTCTCCTGATAGTGCTGT	0.567000													45	94					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795153	140795153	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140795153C>T	ENST00000398610.2	+	1	2411	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAAGTTTCCTATAGAGGAT	0.393000													9	52					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106924059	106924059	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:106924059G>A	ENST00000393603.2	-	13	1796	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	COG5_ENST00000297135.3_Missense_Mutation_p.P509S|COG5_ENST00000347053.3_Missense_Mutation_p.P509S	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	509					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAGAGGAAGGAGGATTACGA	0.388000													15	88					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132914701	132914701	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:132914701C>T	ENST00000409867.1	-	3	601	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GCACAAGCCTCCCTCTGGCAT	0.343000													6	4					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695865	129695865	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129695865G>A	ENST00000302649.3	+	3	1062	c.535G>A	c.(535-537)Gac>Aac	p.D179N	TRH_ENST00000507066.1_Missense_Mutation_p.D175N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	179					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						gagagaggaagaCCTGATGCC	0.627000													17	30					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206549	206549	+	RNA	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:206549A>C	ENST00000356347.3	+	0	151					NR_027481.1																						AGACTCTACGACATCCCTGAA	0.637000													6	13					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123313139	123313139	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123313139G>A	ENST00000349780.4	-	4	416	c.237C>T	c.(235-237)ctC>ctT	p.L79L	CDK5RAP2_ENST00000360822.3_Silent_p.L79L|CDK5RAP2_ENST00000360190.4_Silent_p.L79L|CDK5RAP2_ENST00000359309.3_Silent_p.L79L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	79					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AATAGATGCGGAGCTTTAGGT	0.393000													17	129					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018731	112018731	+	Missense_Mutation	SNP	G	G	A	rs144325998	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018731G>A	ENST00000374566.3	-	8	1299	c.782C>T	c.(781-783)tCc>tTc	p.S261F	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAGATAGGAGAGTTCCGC	0.473000													24	121					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56457058	56457058	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56457058C>T	ENST00000370754.5	-	49	12731	c.12732G>A	c.(12730-12732)gaG>gaA	p.E4244E	DST_ENST00000370769.4_Silent_p.E4066E|DST_ENST00000370788.2_Silent_p.E1978E|DST_ENST00000361203.3_Silent_p.E4064E|DST_ENST00000446842.2_Silent_p.E3740E|DST_ENST00000312431.6_Silent_p.E4064E|DST_ENST00000244364.6_Silent_p.E1652E|DST_ENST00000421834.2_Silent_p.E1978E			Q03001	DYST_HUMAN	dystonin	4064					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGCTGTGGCCTCACAGGCCT	0.428000													3	23					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575733	119575733	+	Missense_Mutation	SNP	G	G	A	rs140469836		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119575733G>A	ENST00000235521.4	-	6	910	c.884C>T	c.(883-885)gCg>gTg	p.A295V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A201V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	295					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)	GTTCATGCCCGCGCTGCGGCG	0.597000													16	48					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232011	125232011	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:125232011G>A	ENST00000439075.1	-	0	2734					NR_026876.1																						TTGAGGCAGTGATTTGGTGAA	0.294000													6	22					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544738	82544738	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544738C>A	ENST00000423517.2	-	7	12901	c.12564G>T	c.(12562-12564)caG>caT	p.Q4188H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q908H|PCLO_ENST00000333891.8_Missense_Mutation_p.Q4188H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4119					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						TATGCTTTGACTGCTTTTGAT	0.348000													28	61					2.65835e-16	2.75082e-16	1	1	0
PRR25	388199	broad.mit.edu	37	16	863384	863384	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:863384C>T	ENST00000301698.1	+	3	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	244										large_intestine(1)|lung(1)|skin(1)	3						GCCTCCCCATCCCTGGGTCCA	0.697000													3	6					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109459108	109459108	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:109459108G>A	ENST00000356711.2	+	7	883	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MYO16_ENST00000251041.5_Missense_Mutation_p.D253N|MYO16_ENST00000357550.2_Missense_Mutation_p.D253N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	253					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATAGTAGATGATCAGTACTG	0.418000													21	48					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410011	126410011	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410011T>A	ENST00000339582.2	-	7	2073	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	GRM8_ENST00000405249.1_Missense_Mutation_p.D422V|GRM8_ENST00000444921.2_Missense_Mutation_p.D422V|GRM8_ENST00000358373.3_Missense_Mutation_p.D422V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	422					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGCAGAGATCTTTGTGCAT	0.413000										HNSCC(24;0.065)			18	60					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086387	55086387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086387C>T	ENST00000251377.3	+	5	675	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_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)		GCCATCTTCTCCGTGGGCCCC	0.567000													66	151					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617426	28617426	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617426G>A	ENST00000395609.1	-	9	1484	c.726C>T	c.(724-726)acC>acT	p.T242T	SULT1A1_ENST00000569554.1_Silent_p.T242T|SULT1A1_ENST00000350842.4_Silent_p.T164T|SULT1A1_ENST00000314752.7_Silent_p.T242T|SULT1A1_ENST00000395607.1_Silent_p.T242T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	242					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTGGGGGACGGTGGTGTAGT	0.602000													27	401					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167625	90167625	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90167625C>T	ENST00000268138.7	+	20	4189	c.4084C>T	c.(4084-4086)Cct>Tct	p.P1362S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1361S					TOPBP1-interacting checkpoint and replication regulator																		CTCAACTCCCCCTGAACTCTC	0.532000													41	115					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55439046	55439046	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55439046G>A	ENST00000588756.1	-	12	3394	c.2908C>T	c.(2908-2910)Cat>Tat	p.H970Y	NLRP7_ENST00000592784.1_Missense_Mutation_p.H970Y|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000328092.5_Missense_Mutation_p.H942Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.H942Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.H998Y|NLRP7_ENST00000590030.1_Intron			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCCACAAATGATTCTGGCCC	0.443000													65	108					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416883	121416883	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:121416883G>A	ENST00000257555.6	+	1	538	c.312G>A	c.(310-312)gtG>gtA	p.V104V	HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000400024.2_Silent_p.V104V|HNF1A_ENST00000541395.1_Silent_p.V104V|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.V104V|HNF1A_ENST00000402929.1_Silent_p.V104V|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_5'UTR			P20823	HNF1A_HUMAN	HNF1 homeobox A	104					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGCCGTGGTGGAGACCCTTC	0.642000									Hepatic Adenoma, Familial Clustering of				5	14					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6063300	6063300	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:6063300C>T	ENST00000223029.3	+	4	1060	c.941C>T	c.(940-942)aCg>aTg	p.T314M	EIF2AK1_ENST00000199389.6_3'UTR|AIMP2_ENST00000395236.2_Missense_Mutation_p.T245M|EIF2AK1_ENST00000536084.1_3'UTR|AIMP2_ENST00000400479.2_Missense_Mutation_p.T236M	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	314	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTAACACGGCCCTCAAG	0.468000													14	76					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701147	52701147	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52701147C>T	ENST00000370989.1	-	4	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	GSTA5_ENST00000284562.2_Silent_p.Q53Q|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	53	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTGGTACTTGCTGGAACAGCA	0.403000													26	90					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127245259	127245259	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:127245259G>A	ENST00000373588.4	-	7	1360	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	388	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CTTTCACCAGGATGTGGTTAT	0.582000													14	102					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410053	126410053	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410053G>A	ENST00000339582.2	-	7	2031	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	GRM8_ENST00000405249.1_Missense_Mutation_p.A408V|GRM8_ENST00000444921.2_Missense_Mutation_p.A408V|GRM8_ENST00000358373.3_Missense_Mutation_p.A408V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	408					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAATATACAGCATCAATTAC	0.423000										HNSCC(24;0.065)			13	37					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813122	2813122	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2813122G>T	ENST00000301740.8	+	11	3142	c.2593G>T	c.(2593-2595)Gta>Tta	p.V865L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	865	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGAGCAATCTGTAACGCCACA	0.493000													51	92					3.10996e-30	3.24419e-30	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64587788	64587788	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587788G>A	ENST00000498707.1	-	26	4191	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	ADAMTS9_ENST00000295903.4_Silent_p.I1255I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1283	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTTTCTGGGATATAATCCT	0.542000													25	67					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595966	44595966	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44595966G>A	ENST00000245121.5	+	10	981	c.787G>A	c.(787-789)Gtt>Att	p.V263I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.V335I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	335						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AGAAAAACTCGTTCGGGTAGG	0.358000													11	38					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19344534	19344534	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19344534C>G	ENST00000263208.5	-	19	2531	c.2275G>C	c.(2275-2277)Gtg>Ctg	p.V759L	HIRA_ENST00000546308.1_Missense_Mutation_p.V715L|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.V715L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	759	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGGAGAACACTGACAGCATC	0.587000													33	125					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489445	76489445	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:76489445C>T	ENST00000435974.2	+	3	251	c.233C>T	c.(232-234)cCa>cTa	p.P78L	C4orf26_ENST00000311623.4_Silent_p.P63P	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGCCCAGCCCATCACAAAGA	0.527000													18	69					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24954320	24954320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:24954320C>A	ENST00000217456.2	-	4	672	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	APMAP_ENST00000447138.1_Nonsense_Mutation_p.E128*	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		GTCTCTATTTCACCATTTTCA	0.438000													5	59					0.0215528	0.021689	1	1	0
TUBG1	7283	broad.mit.edu	37	17	40765002	40765002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40765002C>T	ENST00000251413.3	+	6	579	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	173					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTCAGTGTTTCCCAACCAGGA	0.557000													19	95					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411004	130411004	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130411004C>T	ENST00000370904.1	-	20	3400	c.2490G>A	c.(2488-2490)gtG>gtA	p.V830V	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.V844V|IGSF1_ENST00000361420.3_Silent_p.V839V|IGSF1_ENST00000370910.1_Silent_p.V830V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	839	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCAATGCCCACCGAAATGA	0.502000													71	284					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154598806	154598806	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:154598806C>T	ENST00000404039.1	+	16	2045	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	DPP6_ENST00000377770.3_Silent_p.F550F|DPP6_ENST00000427557.1_Silent_p.F443F|DPP6_ENST00000332007.3_Silent_p.F488F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	550					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGACTTCTTCCTGCTCAAGT	0.602000													24	101					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89341587	89341587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89341587G>A	ENST00000301030.4	-	10	7943	c.7483C>T	c.(7483-7485)Ccc>Tcc	p.P2495S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2495S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2495						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAGGGAGGGAGGGGGTGCG	0.637000													9	15					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570373	9570373	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9570373A>T	ENST00000400556.3	-	11	1428	c.1355T>A	c.(1354-1356)tTg>tAg	p.L452*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.L435*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	452					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GGAGTTATACAATTCCTGATC	0.433000													21	80					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39369801	39369801	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39369801G>A	ENST00000249396.7	-	16	1465	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	SIRT2_ENST00000392081.2_Silent_p.P351P|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	388					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCTGTCACTGGGGTTTCTCCC	0.657000													17	32					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919369	57919369	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919369G>A	ENST00000355673.3	+	6	974	c.618G>A	c.(616-618)agG>agA	p.R206R	MBD6_ENST00000431731.2_Silent_p.R206R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTCCCAAGGGGCAATGCCC	0.642000													31	87					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37927979	37927979	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37927979C>T	ENST00000199447.4	+	15	1720	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	NME8_ENST00000440017.1_Missense_Mutation_p.L450F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	450	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTTCTTTCCTCTTCAAAGCAC	0.368000													8	62					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147020	111147020	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111147020C>T	ENST00000485317.1	-	3	1058	c.385G>A	c.(385-387)Gat>Aat	p.D129N	KCNA2_ENST00000316361.4_Missense_Mutation_p.D129N|KCNA2_ENST00000369770.3_Missense_Mutation_p.D129N|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.D129N			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	129						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TAGCCTTCATCTTCCCGAAAC	0.488000													11	37					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319270	56319270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56319270C>T	ENST00000443188.1	-	6	2662	c.1952G>A	c.(1951-1953)aGg>aAg	p.R651K	NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000589093.1_Missense_Mutation_p.R651K|NLRP11_ENST00000592953.1_Missense_Mutation_p.R552K|NLRP11_ENST00000360133.3_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	651							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGACAGAATCCTTTCTGAAAT	0.438000													20	171					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520305	62520305	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520305G>A	ENST00000394807.3	-	2	1107	c.982C>T	c.(982-984)Cca>Tca	p.P328S		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						gctgacgttggggctgaggct	0.587000													12	69					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459380	99459380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99459380G>A	ENST00000354829.2	+	11	1274	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	CYP3A43_ENST00000417625.1_Missense_Mutation_p.G281R|CYP3A43_ENST00000444905.1_Missense_Mutation_p.G138R|CYP3A43_ENST00000342499.4_Missense_Mutation_p.G251R|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G391R|CYP3A43_ENST00000415413.1_Missense_Mutation_p.G180R|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G391R	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	391			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CATTCCCAAAGGGTTAGCAGT	0.453000													25	104					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150876480	150876480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150876480G>A	ENST00000474524.1	+	6	769	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MED12L_ENST00000422248.2_Missense_Mutation_p.G244E|MED12L_ENST00000309237.4_Missense_Mutation_p.G244E|MED12L_ENST00000273432.4_Missense_Mutation_p.G244E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	244					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAAGGAAGGAATGTTAGAA	0.303000													9	26					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674608	71674608	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674608C>T	ENST00000299952.4	+	3	954	c.911C>T	c.(910-912)gCc>gTc	p.A304V	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	307	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCACGGAGGCCGCCTTCAGC	0.557000													21	32					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84568476	84568476	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:84568476G>A	ENST00000286744.5	+	15	1917	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E565K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	565	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAACAGAAGAACCAACGTG	0.373000													11	3					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56280672	56280672	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56280672G>A	ENST00000225371.5	+	11	2049	c.1939G>A	c.(1939-1941)Gga>Aga	p.G647R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	647				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGCCCGAGACGGAGACAGGTA	0.507000													22	39					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57088699	57088699	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57088699C>T	ENST00000436936.1	+	25	3768	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000262510.6_Silent_p.F1181F|NLRC5_ENST00000308149.7_Silent_p.F1181F|NLRC5_ENST00000539144.1_Silent_p.F1181F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1181					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAAGCCCCTTCCTGCTGGCCA	0.587000													46	230					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385614	21385614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21385614G>A	ENST00000382932.2	-	2	555	c.488C>T	c.(487-489)cCc>cTc	p.P163L	SLC7A4_ENST00000403586.1_Missense_Mutation_p.P163L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	163				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCAGGAGGGGCACCTGCCA	0.642000													6	18					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578606	58578606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578606C>T	ENST00000506786.1	+	5	1182	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	ZNF135_ENST00000401053.4_Missense_Mutation_p.R276W|ZNF135_ENST00000313434.5_Missense_Mutation_p.R252W|ZNF135_ENST00000439855.2_Missense_Mutation_p.R252W|ZNF135_ENST00000359978.6_Missense_Mutation_p.R264W|ZNF135_ENST00000511556.1_Missense_Mutation_p.R264W			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	264					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)		AAAAGGCTTCCGGAACAGCTC	0.502000													21	145					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063936	74063936	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74063936G>A	ENST00000370370.3	-	1	82	c.13C>T	c.(13-15)Ccg>Tcg	p.P5S		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	5					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CTACGTGCCGGGAGAGTTCCC	0.582000													3	24					0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11667353	11667353	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11667353C>T	ENST00000220584.4	+	3	597	c.375C>T	c.(373-375)ttC>ttT	p.F125F	FDFT1_ENST00000525900.1_Silent_p.F118F|FDFT1_ENST00000525777.1_Silent_p.F40F|FDFT1_ENST00000530664.1_Silent_p.F61F|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528643.1_Silent_p.F40F|FDFT1_ENST00000538689.1_Silent_p.F14F|FDFT1_ENST00000528812.1_Silent_p.F61F|FDFT1_ENST00000443614.2_Silent_p.F125F	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	125					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGGAGGACTTCCCAACGGTGA	0.502000													7	31					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324258	57324258	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562000													12	34					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219536676	219536676	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219536676A>G	ENST00000295704.2	-	1	458	c.18T>C	c.(16-18)tcT>tcC	p.S6S		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	6					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCTGCAGACGCAGACG	0.622000													6	15					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071213	150071213	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:150071213C>T	ENST00000409642.3	+	7	1014	c.613C>T	c.(613-615)Cca>Tca	p.P205S	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.P181S|LYPD6B_ENST00000280115.7_Missense_Mutation_p.P205S|LYPD6B_ENST00000409029.1_Missense_Mutation_p.P181S	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTTGTGCTTCCATTGCTGTG	0.507000													39	134					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122029	117122029	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117122029G>C	ENST00000369486.3	-	10	4084	c.3319C>G	c.(3319-3321)Cgt>Ggt	p.R1107G	IGSF3_ENST00000318837.6_Missense_Mutation_p.R1127G|IGSF3_ENST00000369483.1_Missense_Mutation_p.R1127G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1107						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)		TCTAGAACACGGATGCCGATG	0.507000													14	61					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396971	396971	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:396971C>T	ENST00000262320.3	-	2	426	c.55G>A	c.(55-57)Gat>Aat	p.D19N	AXIN1_ENST00000354866.3_Missense_Mutation_p.D19N|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	19					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGGGAGCATCTTCGGTGAAA	0.567000													32	54					0	0	1	0	0
RASA4B	100271927	broad.mit.edu	37	7	102137351	102137351	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:102137351G>A	ENST00000481893.1	-	14	1706	c.582C>T	c.(580-582)tcC>tcT	p.S194S	RASA4B_ENST00000541662.1_Silent_p.S266S|RASA4B_ENST00000306682.6_Silent_p.S194S|RASA4B_ENST00000465829.1_Silent_p.S266S					RAS p21 protein activator 4B											skin(1)	1						GGTAGTAGCTGGAGGGCAGCA	0.672000													4	10					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129778492	129778492	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:129778492G>A	ENST00000226319.6	+	8	1144		c.e8-1		PHF17_ENST00000512960.1_Splice_Site|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000413543.2_Splice_Site|PHF17_ENST00000511647.1_Splice_Site	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN							apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGACCTTTAGGTGAGCATTG	0.507000													50	92					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10205018	10205018	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10205018C>T	ENST00000418404.3	-	39	5833	c.5670G>A	c.(5668-5670)gaG>gaA	p.E1890E	MYH13_ENST00000252172.4_Silent_p.E1890E|MYH13_ENST00000570743.1_Silent_p.E1890E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1890					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCTGCTCCTCCTGCACAG	0.602000													7	44					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2779448	2779448	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779448G>A	ENST00000380605.2	-	2	328	c.264C>T	c.(262-264)acC>acT	p.T88T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	88					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCACCAGTGGGGTGGGGCGAG	0.572000													49	117					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450897	10450897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10450897G>A	ENST00000245503.5	-	4	627	c.243C>T	c.(241-243)aaC>aaT	p.N81N	MYH2_ENST00000532183.1_Silent_p.N81N|MYH2_ENST00000397183.2_Silent_p.N81N|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	81	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTTGGGAGGGTTCATGGGGA	0.433000													103	73					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940361	144940361	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144940361C>T	ENST00000525985.1	-	2	7132	c.7061G>A	c.(7060-7062)aGc>aAc	p.S2354N				P58107	EPIPL_HUMAN	epiplakin 1	2354						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)			CACGCGGTGGCTGTGCACGGG	0.687000													20	472					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73028238	73028238	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028238C>T	ENST00000268057.4	+	14	1220	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	BBS4_ENST00000395205.2_Silent_p.A401A|BBS4_ENST00000542334.1_Silent_p.A221A|BBS4_ENST00000539603.1_Silent_p.A381A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	Required for localization to centrosomes.		A -> V (in dbSNP:rs17852452).		adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACGCCCTGGCCCAATATCAGG	0.463000									Bardet-Biedl syndrome				81	91					0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368801	162368801	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:162368801C>T	ENST00000367929.2	-	3	384	c.275G>A	c.(274-276)gGg>gAg	p.G92E	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	92	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCACCATCCCCTGATTTGG	0.398000													9	62					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444857	54444857	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54444857C>T	ENST00000391767.1	+	5	770	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG7_ENST00000391766.1_Silent_p.F186F|CACNG7_ENST00000222212.2_Silent_p.F186F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	186					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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCCTCCTTCCTACTCAAAG	0.547000													39	108					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139886	140139886	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140139886G>A	ENST00000344774.4	-	3	449	c.395C>T	c.(394-396)cCc>cTc	p.P132L	FAM166A_ENST00000388932.2_Missense_Mutation_p.P132L	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	132										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGGGTGTCGGGCGTGAAGCC	0.642000													18	118					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31079247G>A	ENST00000259870.3	-	2	892	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	297	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522000													18	51					0	0	1	0	0
ASCL4	121549	broad.mit.edu	37	12	108169094	108169094	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108169094G>A	ENST00000342331.4	+	1	933	c.102G>A	c.(100-102)agG>agA	p.R34R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	33					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TCCCGCGGAGGGACCCCCTCA	0.731000													8	51					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445671	85445671	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:85445671G>A	ENST00000316356.4	-	7	1265	c.701C>T	c.(700-702)cCa>cTa	p.P234L	SYTL2_ENST00000528231.1_Missense_Mutation_p.P233L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P185L|SYTL2_ENST00000389960.4_Missense_Mutation_p.P233L|SYTL2_ENST00000524452.1_Missense_Mutation_p.P233L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	233					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGGGGATTGGAGCCTTGAT	0.408000													17	70					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850331	25850331	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25850331G>A	ENST00000397060.4	-	9	1177	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SLC17A3_ENST00000360657.3_Silent_p.F278F|SLC17A3_ENST00000361703.6_Silent_p.F278F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	278					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGTTAGAAGGAAATCTGCCA	0.398000													11	53					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553697	72553697	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:72553697T>A	ENST00000409314.1	-	18	2135	c.1967A>T	c.(1966-1968)aAt>aTt	p.N656I	FCHSD2_ENST00000311172.7_Missense_Mutation_p.N576I|FCHSD2_ENST00000458644.2_Missense_Mutation_p.N496I|FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.N632I			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	632							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGTGTCACCATTTTCTGAGGC	0.438000													19	149					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473030	22473030	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:22473030G>A	ENST00000557788.2	-	0	240																											TTGAGGGACGGGTTGTAGTTG	0.567000													48	284					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466645	10466645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10466645C>T	ENST00000382483.3	-	4	5186	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1655					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGACAGAACTCCTCCCCCTCC	0.667000													10	61					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177033899	177033899	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:177033899G>A	ENST00000468418.3	+	3	2147	c.57G>A	c.(55-57)aaG>aaA	p.K19K	HOXD3_ENST00000410016.1_Silent_p.K19K|HOXD3_ENST00000249440.3_Silent_p.K19K			P31249	HXD3_HUMAN	homeobox D3	19					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAATGCAGAAGGCTGCTTACT	0.537000													17	66					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53383907	53383907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53383907G>A	ENST00000595635.1	-	8	1973	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.P491L|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393000													9	87					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364730	6364730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6364730C>T	ENST00000262483.8	-	18	2540	c.2453G>A	c.(2452-2454)cGg>cAg	p.R818Q	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.R782Q	NM_031220.3	NP_112497.2												p.R818L(1)									GGCCTTCTGCCGCAGCGGGTC	0.632000													42	35					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67328009	67328009	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67328009C>T	ENST00000304372.5	-	12	1711	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	552						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCAGGTTTCCCTTAGCCTTGT	0.562000													43	196					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3230704	3230704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:3230704C>T	ENST00000355072.5	+	59	8222	c.8077C>T	c.(8077-8079)Ccg>Tcg	p.P2693S	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2693					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGAGGACCCCGGCCATCCT	0.597000													10	18					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183087	56183087	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:56183087C>T	ENST00000288221.6	-	5	1478	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	408						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCAGCACACCATTGGCTTT	0.403000													17	43					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918680	77918680	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918680C>T	ENST00000302536.2	+	7	1211	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	353							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGTGGACTCCTTGTGGGCT	0.483000													3	19					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7849046	7849046	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849046G>A	ENST00000380262.3	+	13	2660	c.1734_splice	c.e13-1	p.A579_splice	CNTROB_ENST00000563694.1_Splice_Site_p.A579_splice|CNTROB_ENST00000380255.3_Splice_Site_p.R524_splice|CNTROB_ENST00000565740.1_Splice_Site_p.A579_splice	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	579	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCCTGGTCAGGCTCCTCCTGC	0.537000													22	50					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53050850	53050850	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53050850G>T	ENST00000359798.4	+	4	329	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTTTGTACAGGGAAGTGATG	0.483000													27	241					1.77063e-15	1.82873e-15	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91770132	91770132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770132G>A	ENST00000389857.6	-	20	3634	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1183					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCGTACTCGGCCGATTGCCG	0.642000													13	16					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188177	152188177	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188177G>A	ENST00000368801.2	-	3	6003	c.5928C>T	c.(5926-5928)agC>agT	p.S1976S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1976					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)			ATGGGCCACGGCTGGAAGACC	0.602000													23	1203					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717466	222717466	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:222717466G>A	ENST00000343410.6	-	2	445	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	129					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577000													33	153					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134144090	134144090	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134144090G>A	ENST00000220616.4	+	46	7937	c.7897G>A	c.(7897-7899)Ggg>Agg	p.G2633R	TG_ENST00000519543.1_Missense_Mutation_p.G766R|TG_ENST00000377869.1_Missense_Mutation_p.G2576R|TG_ENST00000542445.1_Missense_Mutation_p.G1003R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2633					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGCCTTGGGGCTTCCCTT	0.488000													33	61					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351440	36351440	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36351440C>T	ENST00000360202.5	+	7	997	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	KIRREL2_ENST00000586102.2_Missense_Mutation_p.P247S|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.P217S|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P267S|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P267S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	267	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCTCTCCGGTGCTCGG	0.647000													19	45					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941446	35941446	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35941446C>G	ENST00000599180.1	+	2	910	c.830C>G	c.(829-831)tCt>tGt	p.S277C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.S277C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	277						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TATTTCTCTTCTTCAGTGGTG	0.582000													32	107					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995654	19995654	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:19995654C>T	ENST00000391403.2	-	1	2224	c.2121G>A	c.(2119-2121)agG>agA	p.R707R		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	707	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGGACATCCCTTGGAGAAA	0.507000													18	74					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362983	228362983	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228362983C>T	ENST00000366711.3	+	3	842	c.840C>T	c.(838-840)ttC>ttT	p.F280F	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.F87F	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	280					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGCGCCTCTTCCCTGTCCGGT	0.637000													10	56					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062994	55062994	+	RNA	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55062994C>A	ENST00000526016.1	-	0	643					NR_038174.2																						ATACATTCCTCTTAAAAGCTC	0.428000													12	40					5.50884e-06	5.58518e-06	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198671529	198671529	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:198671529G>A	ENST00000367376.2	+	6	618	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Silent_p.E151E|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	149					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						TCCCAGGAGAGAGGAGTACAG	0.522000													24	114					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847129	38847129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38847129C>T	ENST00000409235.3	+	10	1256	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CATSPERG_ENST00000215069.4_Intron|CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.Q381*	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	381					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCAGATGGCCAGGTGTCCTT	0.607000													11	63					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617420	28617420	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617420G>A	ENST00000395609.1	-	9	1490	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SULT1A1_ENST00000569554.1_Silent_p.P244P|SULT1A1_ENST00000350842.4_Silent_p.P166P|SULT1A1_ENST00000314752.7_Silent_p.P244P|SULT1A1_ENST00000395607.1_Silent_p.P244P			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TGAACTCCTGGGGGACGGTGG	0.617000													27	425					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196773	62196773	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62196773G>A	ENST00000467148.1	-	8	3471	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	HELZ2_ENST00000427522.2_Silent_p.F565F	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TCTCTGGCACGAAAGAGCAGT	0.701000													6	24					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153028	4153028	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4153028C>T	ENST00000404826.2	+	24	3681	c.3542C>T	c.(3541-3543)aCg>aTg	p.T1181M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1181M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1181	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.T1181M(3)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCGTCACGGTCCGTACT	0.647000													26	193					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790671	38790671	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:38790671C>T	ENST00000359357.3	+	25	3184	c.2930C>T	c.(2929-2931)gCg>gTg	p.A977V	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1194V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A977V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGGGGGTAGCGGAGCACAAG	0.418000													4	34					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33067280	33067280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33067280G>A	ENST00000286835.7	-	10	1464	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	SCAF4_ENST00000434667.3_Missense_Mutation_p.P346L|SCAF4_ENST00000399804.1_Missense_Mutation_p.P361L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	361						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGTCCATTAGGAGGAAGTGG	0.388000													16	40					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21869120	21869120	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrY:21869120G>T	ENST00000541639.1	-	25	4292	c.4005C>A	c.(4003-4005)gcC>gcA	p.A1335A	KDM5D_ENST00000382806.2_Silent_p.A1247A|KDM5D_ENST00000317961.4_Silent_p.A1304A	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1304					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GTCTGGGTTTGGCCTGTAGCT	0.557000													3	3					6.4e-05	6.47656e-05	1	1	0
EFR3A	23167	broad.mit.edu	37	8	132982751	132982751	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132982751C>T	ENST00000254624.5	+	10	1245	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	EFR3A_ENST00000334503.4_Silent_p.T340T|EFR3A_ENST00000519656.1_Silent_p.T304T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	340						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTCAATACCCTTTTGAAAC	0.383000													18	33					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38409713	38409713	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38409713T>C	ENST00000207870.3	+	8	701	c.611T>C	c.(610-612)tTc>tCc	p.F204S	XYLB_ENST00000542835.1_Missense_Mutation_p.F67S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	204					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCTTCCCTGTTCCTTGGCTCT	0.517000													29	82					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38871607	38871607	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38871607C>T	ENST00000592035.1	+	5	912	c.270C>T	c.(268-270)acC>acT	p.T90T	PSMD8_ENST00000215071.4_Silent_p.T257T|PSMD8_ENST00000602911.1_Silent_p.T194T			P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	257					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	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGCTACACCTTCTTCATTG	0.572000													3	7					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92600677	92600677	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:92600677C>T	ENST00000298875.4	+	5	678	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	131					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AGCTAAAATTCTCTCAGATTG	0.333000													6	35					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52836770	52836770	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52836770T>C	ENST00000449956.2	+	13	1663	c.1657T>C	c.(1657-1659)Tac>Cac	p.Y553H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	553					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTCGGGAATTACATTGAGCG	0.617000													6	24					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141134	143141134	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143141134C>T	ENST00000332690.1	+	1	589	c.589C>T	c.(589-591)Cta>Tta	p.L197L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	197					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCTTCCCTCTAAAAATGAT	0.418000													62	155					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842808	47842808	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47842808C>T	ENST00000289672.2	-	53	8012	c.7962_splice	c.e53+1	p.G2654_splice	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2654					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						GAGTTCTTACCCCTGCTACAA	0.453000													8	83					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85953824	85953824	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:85953824C>T	ENST00000268638.5	+	8	1520	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	IRF8_ENST00000562492.1_Silent_p.L162L	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	366					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AACTCATTCTCGTGCAGGTAA	0.507000													8	17					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113414	59113414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:59113414G>A	ENST00000395153.3	+	4	2109	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	DACT1_ENST00000556859.1_Silent_p.L410L|DACT1_ENST00000395151.3_Silent_p.L410L|DACT1_ENST00000335867.4_Silent_p.L691L|DACT1_ENST00000541264.2_Silent_p.L410L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	691					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGAGGCCCTGAGGAGGGCCC	0.677000													9	32					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176833	140176833	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140176833G>A	ENST00000526136.1	+	1	2284	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E762K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E762K|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCTGGGGAGGACCCCCC	0.627000													7	55					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774687	140774687	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140774687C>T	ENST00000398604.2	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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)			GTCACCTGATCTTTCCCCAGC	0.488000													15	74					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684050	33684050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:33684050C>T	ENST00000504830.1	-	4	1080	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E249K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E249K(1)		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						ACCAGTGTCTCCACCCATCTC	0.527000										HNSCC(64;0.19)			31	126					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903905	5903905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5903905C>T	ENST00000378961.4	+	4	1319	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	372						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAATACAGGGCTCCAAGACCT	0.507000													51	80					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45803391	45803391	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45803391C>A	ENST00000261867.4	-	3	797	c.483G>T	c.(481-483)ttG>ttT	p.L161F	SLC30A4_ENST00000559667.1_5'UTR|RP11-519G16.3_ENST00000560647.1_RNA|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	161					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGATAGCCACAAAGCAAGCA	0.373000													43	333					1.00776e-21	1.04762e-21	1	1	0
CRLF2	64109	broad.mit.edu	37	X	1314914	1314914	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1314914C>G	ENST00000381567.3	-	6	746	c.747G>C	c.(745-747)ctG>ctC	p.L249L	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	249						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCATAAAGACAGAAGGAGGA	0.483000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								8	29					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201821288	201821288	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821288C>T	ENST00000361565.4	+	5	640	c.571C>T	c.(571-573)Cca>Tca	p.P191S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	191					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGTCATTCTCCCAGAGATGTA	0.423000													10	40					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48447185	48447185	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447185C>T	ENST00000358536.4	-	37	6518	c.6249G>A	c.(6247-6249)ggG>ggA	p.G2083G	PLXNB1_ENST00000448774.2_Silent_p.G694G|PLXNB1_ENST00000358459.4_Silent_p.G1900G|PLXNB1_ENST00000456774.1_Silent_p.G1900G|PLXNB1_ENST00000296440.6_Silent_p.G2083G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2083					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACTCGCGCCCCGAGGTCTC	0.612000													10	24					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158672676	158672676	+	Missense_Mutation	SNP	C	C	T	rs17856461		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:158672676C>T	ENST00000407559.3	+	5	1033	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	292				S -> F (in Ref. 2; AAH14491).						NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGGAATCCCAGGTACCC	0.527000													10	51					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462099	70462099	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70462099C>T	ENST00000503640.1	-	3	920	c.864_splice	c.e3-1	p.E289_splice	UGT2A2_ENST00000457664.2_Splice_Site_p.E298_splice|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000502343.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	289					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTCCATTTCCTGCATACAT	0.308000													9	54					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19789706	19789706	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19789706C>A	ENST00000329517.6	-	7	786	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	GNB1L_ENST00000405009.1_Missense_Mutation_p.G184C|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184C	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCTCATAGCCGGCCAGAAGG	0.622000													7	41					0.27861	0.279333	1	1	0
MUC15	143662	broad.mit.edu	37	11	26582706	26582706	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:26582706G>A	ENST00000436318.2	-	4	1125	c.992C>T	c.(991-993)cCa>cTa	p.P331L	MUC15_ENST00000281268.8_Missense_Mutation_p.P281L|MUC15_ENST00000455601.2_Missense_Mutation_p.P304L|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P331L|MUC15_ENST00000527569.1_Missense_Mutation_p.P281L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	304						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTCAAAGTTGGATTGTAGTA	0.378000													12	35					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016575	33016575	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:33016575C>T	ENST00000357505.6	-	7	2158	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.G603E|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.G685E|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.G700E	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAAGGCAAACCCTTGTGATAA	0.398000													6	20					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111851062	111851062	+	Splice_Site	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:111851062A>C	ENST00000389811.4	+	19	1856		c.e19-1		ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCTTTCTGCAGGAGAGATGC	0.398000													11	21					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56103957	56103957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56103957G>A	ENST00000221665.3	-	3	1439	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGTGGCGGAAGAACTTGCCGC	0.662000													3	21					0	0	1	0	0
RPAIN	84268	broad.mit.edu	37	17	5329615	5329615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5329615C>T	ENST00000381209.3	+	5	1055	c.485C>T	c.(484-486)tCt>tTt	p.S162F	RPAIN_ENST00000536255.2_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000405578.4_Missense_Mutation_p.S162F|RPAIN_ENST00000381208.5_Missense_Mutation_p.S162F|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000574003.1_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	162					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCATCCCATCTCATGTGAGT	0.488000													23	91					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363573	56363573	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56363573C>T	ENST00000301295.6	+	2	549	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NLRP4_ENST00000346986.5_Missense_Mutation_p.P43S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	43	DAPIN.						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)		CAAGCAGATTCCCTGGACTGA	0.413000													52	86					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414910	213414910	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:213414910T>G	ENST00000366960.3	+	11	2241	c.2091T>G	c.(2089-2091)ggT>ggG	p.G697G	RPS6KC1_ENST00000543470.1_Silent_p.G485G|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Silent_p.G400G|RPS6KC1_ENST00000366959.3_Silent_p.G685G	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	697					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTTACCTGGTGAATTGGAGT	0.388000													18	67					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821010	35821010	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:35821010G>A	ENST00000399989.1	+	2	976	c.697G>A	c.(697-699)Gga>Aga	p.G233R	MAGEB16_ENST00000399987.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G265R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G233R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	233	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTTGACGGGAGTATATTC	0.498000													13	12					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73115191	73115191	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73115191G>A	ENST00000395155.3	-	9	748	c.749C>T	c.(748-750)tCg>tTg	p.S250L	STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000222812.3_Intron|STX1A_ENST00000395154.3_3'UTR|STX1A_ENST00000395156.3_Intron			Q16623	STX1A_HUMAN	syntaxin 1A (brain)	0	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGGGCACCCGAGCTCCAGAG	0.612000													13	28					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709395	19709395	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19709395C>T	ENST00000438754.2	+	9	1161	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SEPT5_ENST00000383045.3_Missense_Mutation_p.R298C|SEPT5_ENST00000406395.1_Missense_Mutation_p.P285L|SEPT5_ENST00000455784.2_Missense_Mutation_p.R289C	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	215					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CATGCTCATCCGCACGCATAT	0.652000													8	44					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33058318	33058318	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058318G>A	ENST00000307363.5	-	14	1506	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	GLB1_ENST00000399402.3_Silent_p.V424V|GLB1_ENST00000307377.8_Silent_p.V323V|GLB1_ENST00000445488.2_Silent_p.V502V|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	454					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTCGCTCAAGGACTCCCTGGG	0.483000													14	58					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777200	44777200	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44777200G>A	ENST00000391958.2	+	5	514	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TTCAAGGCAAGAGGTCCAAGT	0.378000													9	62					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180597	124180597	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124180597C>A	ENST00000357821.2	-	1	136	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCTGGAGCTCTGCTTGCT	0.453000													22	137					1.66031e-10	1.69922e-10	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64693256	64693256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64693256C>T	ENST00000164133.2	+	2	672	c.50C>T	c.(49-51)cCc>cTc	p.P17L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	17					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCTCCTCCCCCGGGCTGTCG	0.711000													9	8					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123880719	123880719	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123880719G>C	ENST00000373855.1	+	12	1811	c.1551G>C	c.(1549-1551)ctG>ctC	p.L517L	CNTRL_ENST00000373865.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.L517L			Q7Z7A1	CNTRL_HUMAN	centriolin	517					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTAGAACTGCAGATGGAAA	0.418000													28	125					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44574858	44574858	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44574858T>C	ENST00000372409.3	+	14	1812	c.1448T>C	c.(1447-1449)cTc>cCc	p.L483P	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	483						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGCGTGGGCCTCTACGAGGGG	0.667000													12	93					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357846	46357846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46357846G>A	ENST00000400405.2	-	2	588	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	161					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GCCAAGGCAGGAGTGCATGAT	0.597000													7	23					0	0	1	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20234791	20234791	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20234791G>A	ENST00000175091.4	-	5	972	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	155					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGTCCAAGGCCAGGAGGT	0.428000													3	9					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681448	3681448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3681448C>T	ENST00000250693.1	+	3	800	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	233					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGGCTACTCCTTCTTCCCTG	0.597000													9	38					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392672	22392672	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22392672G>A	ENST00000390440.2	+	0	270																											GTGGGGAAATGATTTTTCTTA	0.448000													25	143					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17312619	17312619	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:17312619G>A	ENST00000341676.5	-	27	3514	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	ATP13A2_ENST00000326735.8_3'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_3'UTR	NM_001141974.1	NP_001135446.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	476					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAACCTCAGGGATGTGGGAGG	0.647000													8	14					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2645612	2645612	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2645612C>T	ENST00000402050.2	+	20	2030	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	IQCE_ENST00000325979.7_Silent_p.L551L|IQCE_ENST00000404984.1_Silent_p.L565L|IQCE_ENST00000438376.2_Silent_p.L600L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	616	IQ 2.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCGGGCACACCTGGCCCGGGC	0.706000													4	47					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566179	18566179	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18566179C>T	ENST00000545289.1	-	5	890	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GCATAAGATCCTTTGGGAACT	0.343000													21	28					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482831	20482831	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482831C>T	ENST00000305045.2	-	1	521	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGTCTACCTCATTGGGGC	0.483000													20	44					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422771	220422771	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220422771C>T	ENST00000404537.1	-	11	3620	c.3564G>A	c.(3562-3564)ggG>ggA	p.G1188G	OBSL1_ENST00000265318.4_Silent_p.G1096G|OBSL1_ENST00000265317.5_Silent_p.G179G|OBSL1_ENST00000373876.1_Silent_p.G1188G|OBSL1_ENST00000603926.1_Silent_p.G1188G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1188	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCACTGGCTCCCCAGGGGCCA	0.642000													5	26					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85862842	85862842	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:85862842A>G	ENST00000304195.3	-	14	1991	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000376438.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	595						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCATGAGCAACCCAGCATGT	0.478000													95	247					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150863	128150863	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128150863C>T	ENST00000368250.1	-	4	728	c.230G>A	c.(229-231)aGg>aAg	p.R77K	THEMIS_ENST00000368248.2_Missense_Mutation_p.R156K|THEMIS_ENST00000537166.1_Missense_Mutation_p.R121K|THEMIS_ENST00000543064.1_Missense_Mutation_p.R156K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	156	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTGATGATTCCTTGCTACTGC	0.378000													14	109					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228172461	228172461	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228172461G>A	ENST00000396578.3	+	48	4450	c.4288G>A	c.(4288-4290)Gga>Aga	p.G1430R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1430	Epitope recognized by Goodpasture antibodies.|Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGTTTGAAAGGAAAACGTGG	0.433000													16	66					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18823385	18823385	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:18823385C>T	ENST00000446231.2	-	61	11098	c.10686G>A	c.(10684-10686)ctG>ctA	p.L3562L	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.L3563L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3562					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTTGGATCAGCTTTCTAG	0.463000													16	63					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132056	59132056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59132056G>A	ENST00000313940.2	+	1	172	c.125G>A	c.(124-126)tGg>tAg	p.W42*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTCTGGCCTGGAACCTCTCC	0.418000													54	114					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	961572	961572	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:961572G>A	ENST00000273814.3	-	7	903	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	277					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGTCGGCGCCGTCGCC	0.746000													3	11					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052301	44052301	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:44052301C>T	ENST00000306006.6	-	2	1879	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ZNF239_ENST00000535642.1_Silent_p.G409G|ZNF239_ENST00000426961.1_Silent_p.G409G|ZNF239_ENST00000374446.2_Silent_p.G409G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAATCCCTTCCCACACTTGC	0.522000													6	39					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43853231	43853231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43853231G>A	ENST00000372457.4	-	3	256	c.213C>T	c.(211-213)ttC>ttT	p.F71F	MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Silent_p.F71F|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGTTACGGAACAGCGGTG	0.463000													15	35					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345745	124345745	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:124345745C>T	ENST00000338354.3	+	16	1735	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.A543A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.A533A|DMBT1_ENST00000368955.3_Silent_p.A533A|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	543	SRCR 4.				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)				CCATGTTGGCCCCAGGAAATG	0.602000													62	180					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642908	91642908	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642908G>A	ENST00000373094.1	+	5	4164	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N	PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D1097N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D1107N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D1070N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D1070N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D1097N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1107					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						CACTGAAGGGGATGGCAACTC	0.488000													31	10					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024700	203024700	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024700C>T	ENST00000367240.2	+	15	2434	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	PPFIA4_ENST00000295706.4_Missense_Mutation_p.S151F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S151F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S635F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S364F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S151F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	151					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACGGCCCTGTCCCTGGCCAGC	0.642000													3	40					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113783849	113783849	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113783849C>A	ENST00000375559.3	+	2	192	c.154C>A	c.(154-156)Cac>Aac	p.H52N	F10_ENST00000375551.3_Missense_Mutation_p.H52N|F10_ENST00000409306.1_Missense_Mutation_p.H52N|F10_ENST00000483537.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	52	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGAAAGGACACCTCGAAAG	0.567000													18	65					5.3912e-06	5.46796e-06	1	1	0
ZBTB48	3104	broad.mit.edu	37	1	6642211	6642211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6642211C>T	ENST00000377674.4	+	3	942	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	262						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAATGTAATCCGAAAGCCCTG	0.582000													7	20					0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956454	209956454	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956454G>A	ENST00000294811.1	-	2	782	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	176										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGCCCAGGAGGATCCCAAAT	0.507000													44	58					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43779473	43779473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43779473T>A	ENST00000405006.4	-	18	3031	c.2680A>T	c.(2680-2682)Aaa>Taa	p.K894*	THADA_ENST00000330266.7_Nonsense_Mutation_p.K604*|THADA_ENST00000402360.2_Nonsense_Mutation_p.K894*|THADA_ENST00000405975.2_Nonsense_Mutation_p.K894*|THADA_ENST00000415080.2_Nonsense_Mutation_p.K604*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	894							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATCAAGCATTTGATAACTAGA	0.368000													10	29					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81045703	81045703	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81045703C>T	ENST00000305850.5	+	2	949	c.159C>T	c.(157-159)atC>atT	p.I53I	CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000439957.3_Silent_p.I53I|CENPN_ENST00000428963.2_Silent_p.I53I|CENPN_ENST00000393335.3_Silent_p.I53I|CENPN_ENST00000299572.5_Silent_p.I53I|CMC2_ENST00000565914.1_Intron	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	53					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						AGCACTTGATCCATCTGTGTG	0.403000													8	57					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59912005	59912005	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:59912005C>T	ENST00000256858.6	+	11	1877	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	KIAA1468_ENST00000398130.2_Silent_p.I543I			Q9P260	K1468_HUMAN	KIAA1468	543							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGGAGTTGATCCCCCTCATAT	0.373000													16	41					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135698629	135698629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135698629C>T	ENST00000298545.3	-	9	1373	c.852G>A	c.(850-852)caG>caA	p.Q284Q	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	284	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGAGGGCGGCCTGCAGACTTT	0.617000													28	174					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26108184	26108184	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26108184G>A	ENST00000313735.6	-	8	975	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	248					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCCGCTGGGGGAACACGGTG	0.617000													10	53					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467449	33467449	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467449G>A	ENST00000379471.2	-	13	1755	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	NOL6_ENST00000455041.2_Silent_p.L504L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	556					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTCAGGCCGGAGAAGGAGTC	0.597000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	28					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719110	42719110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:42719110C>T	ENST00000230882.4	+	10	1691	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	GHR_ENST00000357703.3_Missense_Mutation_p.L479F|GHR_ENST00000537449.1_Missense_Mutation_p.L314F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	501					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAGTGTGGTCCTTTCCCCGGG	0.488000													19	38					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151093194	151093194	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151093194C>T	ENST00000334493.6	-	3	824	c.394G>A	c.(394-396)Gag>Aag	p.E132K	WDR86_ENST00000469830.2_Missense_Mutation_p.E132K|WDR86_ENST00000477459.1_Missense_Mutation_p.E4K	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	132										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAACTCCCGGGACATC	0.677000													8	35					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030212	95030212	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95030212C>T	ENST00000557004.1	+	2	814	c.393C>T	c.(391-393)ccC>ccT	p.P131P	SERPINA4_ENST00000555095.1_Silent_p.P131P|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.P131P			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	131					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P131P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAACCTCCCCGGCCATGGGC	0.582000													13	84					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917521	40917521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40917521C>T	ENST00000346991.5	+	11	5527	c.5137C>T	c.(5137-5139)Cag>Tag	p.Q1713*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.Q1687*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1713					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGAAACTCAGCCGGTCTC	0.398000													15	105					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601548	75601548	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:75601548G>A	ENST00000549446.1	-	2	896	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KCNC2_ENST00000350228.2_Silent_p.P72P|KCNC2_ENST00000548513.1_Silent_p.P72P|KCNC2_ENST00000341669.3_Silent_p.P72P|KCNC2_ENST00000550433.1_Silent_p.P72P|KCNC2_ENST00000298972.1_Silent_p.P72P|KCNC2_ENST00000540018.1_Silent_p.P72P|KCNC2_ENST00000393288.2_Silent_p.P72P	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	72	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGCCTGGCCCGggggacagcg	0.761000													2	0					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427593	197427593	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197427593G>A	ENST00000273582.5	-	7	1517	c.972C>T	c.(970-972)ctC>ctT	p.L324L	KIAA0226_ENST00000296343.5_Silent_p.L384L|KIAA0226_ENST00000449205.1_Silent_p.L384L|KIAA0226_ENST00000389665.5_Silent_p.L384L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	384	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGACCTGCGGAGGACACTGG	0.582000													13	59					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454573	29454573	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454573G>A	ENST00000377127.3	-	1	1165	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	369						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.P369P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTGCTCCCTGGGAAGAAGGT	0.512000													20	81					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102891	61102891	+	Missense_Mutation	SNP	C	C	T	rs138120427		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61102891C>T	ENST00000196169.3	+	11	2041	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	TDRD3_ENST00000377894.2_Missense_Mutation_p.P418L|TDRD3_ENST00000377881.2_Missense_Mutation_p.P418L|TDRD3_ENST00000535286.1_Missense_Mutation_p.P511L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	418					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)		GGAAAAGGTCCCTCCTTTGCA	0.363000													15	75					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521446	131521446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:131521446C>T	ENST00000423981.1	+	2	1911	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R601*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGATGCCTCTCGAGAGGAAGA	0.597000													20	65					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350689	24350689	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24350689G>A	ENST00000175238.6	+	16	1872	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D597N|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTATACCATGATTCTACAGA	0.403000													18	36					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138474	42138474	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138474C>T	ENST00000382448.4	+	22	2376	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	PLA2G4B_ENST00000452633.1_Silent_p.T558T|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.T789T|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.T558T	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		558					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGTTTTTCACCGATCTTCTGA	0.532000													19	132					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607230	607230	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:607230C>T	ENST00000264555.5	+	14	1902	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	PHRF1_ENST00000416188.2_Missense_Mutation_p.P591S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P590S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P588S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	592							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCCCGCACCCCCGCCCGCAC	0.701000													19	27					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814231	49814231	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49814231C>A	ENST00000454748.3	-	2	575	c.374G>T	c.(373-375)tGt>tTt	p.C125F	SLC6A16_ENST00000335875.4_Missense_Mutation_p.C125F			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	125						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCGCCAGAGACAAGATGGCTT	0.537000													23	67					2.21704e-12	2.27502e-12	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	12719057	12719057	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:12719057C>T	ENST00000379350.1	+	2	210	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PHACTR1_ENST00000332995.7_Silent_p.F27F|PHACTR1_ENST00000379348.2_Silent_p.F27F			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	27						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCAAAGATTCTTCTACAGTC	0.383000													4	5					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122660595	122660595	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660595T>G	ENST00000263461.6	+	21	2918	c.2672T>G	c.(2671-2673)tTg>tGg	p.L891W	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	891						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAGAACAGTTGAATTCATTG	0.284000													20	55					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26784938	26784938	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:26784938A>C	ENST00000381340.3	-	22	3211	c.2795T>G	c.(2794-2796)gTa>gGa	p.V932G	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	932					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTACTGAGTACCATCTGGGT	0.552000													17	119					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494381	149494381	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149494381C>T	ENST00000378016.2	+	0	6852							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAAGACCCTGGCCCTCT	0.662000													6	52					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31919771	31919771	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31919771G>A	ENST00000456570.1	+	30	3820	c.3765G>A	c.(3763-3765)aaG>aaA	p.K1255K	CFB_ENST00000425368.2_Silent_p.K753K|CFB_ENST00000556679.1_Silent_p.K1255K|CFB_ENST00000477310.1_Silent_p.K1104K			P00751	CFAB_HUMAN	complement factor B	753					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTGGCTGAAGGAGAAACTCC	0.502000													44	242					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243289829	243289829	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:243289829T>C	ENST00000366542.1	-	20	4728	c.4677A>G	c.(4675-4677)gaA>gaG	p.E1559E	CEP170_ENST00000366543.1_Silent_p.E1435E|CEP170_ENST00000481987.1_Silent_p.E295E|CEP170_ENST00000366544.1_Silent_p.E1461E|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Silent_p.E268E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1559	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGCCTCAGATTCAGCATTCT	0.458000													6	18					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362544	105362544	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105362544G>A	ENST00000369774.4	-	15	2707	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.P678S|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.P646S|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.P783S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	811					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTCACTGGGAGCCTCGGAG	0.647000													33	115					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124207	204124207	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204124207G>A	ENST00000367195.2	-	9	1192	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	REN_ENST00000272190.8_Silent_p.I386I			P00797	RENI_HUMAN	renin	386					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGAACTTTCGGATGAAGGTGG	0.607000													10	43					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138858008	138858008	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858008G>A	ENST00000330794.4	-	6	939	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	202					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCCAATGGGAGGAGAATAT	0.557000													22	139					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101873415	101873415	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873415C>T	ENST00000551346.1	+	4	312	c.153C>T	c.(151-153)tcC>tcT	p.S51S	SPIC_ENST00000299272.5_Silent_p.S51S			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGGAAATTCCAGCTGCTATG	0.358000													9	56					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248419	42248419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248419G>A	ENST00000293414.1	+	1	346	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	88					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGATTGTGGAGACTGTGAG	0.607000													4	46					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353019	17353019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:17353019G>A	ENST00000261381.6	-	3	823	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	247					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGGTCTCGGGGGAGCTGCCC	0.632000													57	102					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204518442	204518442	+	Missense_Mutation	SNP	C	C	T	rs140091735	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204518442C>T	ENST00000367182.3	+	11	1267	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Missense_Mutation_p.P43S|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.P319S	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	369					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CATTTCGGCTCCTGTCGTTAG	0.408000			A		"""GBM, bladder, retinoblastoma"""								55	89					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50866165	50866165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:50866165G>A	ENST00000442544.2	+	15	2863	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	DCC_ENST00000581580.1_Silent_p.L404L|DCC_ENST00000412726.1_Silent_p.L597L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	749	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCCCTTGAACCCAAACA	0.483000													21	62					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49707071	49707071	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:49707071G>A	ENST00000303221.5	-	3	558	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	EMB_ENST00000508934.1_Intron|EMB_ENST00000514111.1_Missense_Mutation_p.L65F|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	115	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCACTGACAAGATAATTATTC	0.348000													20	60					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70998852	70998852	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70998852G>A	ENST00000354624.5	+	5	683	c.550G>A	c.(550-552)Gat>Aat	p.D184N	HKDC1_ENST00000395086.2_Missense_Mutation_p.D184N	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	184					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGACACGGATGTGGTGAG	0.512000													18	15					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117926	79117926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117926G>A	ENST00000442371.1	+	3	1568	c.629G>A	c.(628-630)tGg>tAg	p.W210*	GCNT1_ENST00000536223.1_Nonsense_Mutation_p.W210*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.W210*|GCNT1_ENST00000376730.4_Nonsense_Mutation_p.W210*	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	210	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGTGCAAACTGGAAGTACTTG	0.438000													18	89					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181223	57181223	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181223G>A	ENST00000504228.1	+	6	1660	c.1555G>A	c.(1555-1557)Gtg>Atg	p.V519M	KIAA1211_ENST00000541073.1_Missense_Mutation_p.V512M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V519M			Q6ZU35	K1211_HUMAN	KIAA1211	519	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGCCGCAAGGTGGAGGAGCT	0.642000													5	27					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80708411	80708411	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80708411C>T	ENST00000300784.7	+	6	772	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	237					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GACCCGGCTTCCTTCTATGGC	0.572000													39	201					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69172545	69172545	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:69172545G>A	ENST00000328895.4	-	6	618	c.510C>T	c.(508-510)ctC>ctT	p.L170L	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	170						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGATGCCCAGGAGCCCAGCCT	0.368000													39	176					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556102	29556102	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556102C>T	ENST00000383640.2	+	1	420	c.381C>T	c.(379-381)ccC>ccT	p.P127P	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	127					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTGCCAGCCCCTCCACTATG	0.577000													13	82					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74732409	74732409	+	Translation_Start_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74732409C>A	ENST00000586622.1	+	0	302				RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Missense_Mutation_p.R155L|SRSF2_ENST00000392485.2_Missense_Mutation_p.R167L|MFSD11_ENST00000588460.1_De_novo_Start_InFrame|SRSF2_ENST00000359995.5_Missense_Mutation_p.R167L			O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTGGACCTTCGTGCGGATCT	0.622000													21	92					2.27731e-05	2.30627e-05	1	1	0
STAB1	23166	broad.mit.edu	37	3	52544384	52544384	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52544384C>T	ENST00000321725.6	+	25	2724	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	883	EGF-like 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCCCTGGGTCCCTGGGCACC	0.602000													14	46					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141543	239141543	+	RNA	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239141543C>G	ENST00000456601.1	+	0	906																											CAGGGTCGGGCAGTGGTTTTA	0.493000													22	95					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044583	119044583	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119044583C>T	ENST00000409109.1	+	5	1212	c.625C>T	c.(625-627)Cca>Tca	p.P209S	NLRX1_ENST00000525863.1_Missense_Mutation_p.P209S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P209S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P209S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P209S			Q86UT6	NLRX1_HUMAN	NLR family member X1	209	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCCTGCCCCAGCCTCCCT	0.642000													17	28					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54394978	54394978	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54394978C>T	ENST00000263431.3	+	6	862	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	PRKCG_ENST00000542049.1_Missense_Mutation_p.P81S|PRKCG_ENST00000540413.1_Missense_Mutation_p.P194S|PRKCG_ENST00000536044.1_Missense_Mutation_p.P194S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	194	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCTCTCTGATCCCTATGTGAA	0.532000													74	164					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461790	11461790	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11461790C>T	ENST00000279575.1	-	3	160	c.127G>A	c.(127-129)Gga>Aga	p.G43R	PRB4_ENST00000535904.1_Missense_Mutation_p.G43R|PRB4_ENST00000445719.2_Missense_Mutation_p.G43R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGCGT	0.567000										HNSCC(22;0.051)			56	392					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8172385	8172385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8172385C>T	ENST00000314666.6	+	28	3953	c.3820C>T	c.(3820-3822)Ccc>Tcc	p.P1274S	PFAS_ENST00000545834.1_Missense_Mutation_p.P850S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1274	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTCTGAATCCCAATGGGTC	0.627000													50	29					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192109	22192109	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22192109C>T	ENST00000390425.2	+	0	150																											CCCCCCAATCCCGCCCGCCGT	0.582000													57	98					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165294	3165294	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3165294G>A	ENST00000520002.1	-	26	4431	c.3876C>T	c.(3874-3876)tcC>tcT	p.S1292S	CSMD1_ENST00000539096.1_Silent_p.S1291S|CSMD1_ENST00000537824.1_Silent_p.S1291S|CSMD1_ENST00000602723.1_Silent_p.S1292S|CSMD1_ENST00000602557.1_Silent_p.S1292S|CSMD1_ENST00000542608.1_Silent_p.S1291S|CSMD1_ENST00000400186.3_Silent_p.S1292S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1292	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATAGCCAGGGGACAATATTC	0.478000													26	132					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740533	140740533	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140740533C>T	ENST00000522605.1	+	1	831	c.831C>T	c.(829-831)atC>atT	p.I277I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGATCACCTACTCCT	0.468000													8	20					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906818	77906818	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:77906818G>A	ENST00000355300.6	-	2	1605	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	LINGO1_ENST00000561030.1_Silent_p.F471F	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	477	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCCATCAGGGAAGACTGTGA	0.677000													6	40					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155727075	155727075	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727075G>A	ENST00000437809.1	-	26	5415	c.5293C>T	c.(5293-5295)Cac>Tac	p.H1765Y	GON4L_ENST00000368331.1_Missense_Mutation_p.H1765Y|GON4L_ENST00000271883.5_Missense_Mutation_p.H1765Y			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1765	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGGTGGTCGTGGCCC	0.532000													14	81					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70881893	70881893	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:70881893G>A	ENST00000322773.4	+	41	2708	c.2606G>A	c.(2605-2607)gGa>gAa	p.G869E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G491E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	869	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGATTAGAAGGATTTCCAGGT	0.358000													10	57					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131190752	131190752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131190752C>T	ENST00000541194.1	-	8	1617	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PODXL_ENST00000537928.1_Missense_Mutation_p.E420K|PODXL_ENST00000378555.3_Missense_Mutation_p.E452K|PODXL_ENST00000322985.9_Missense_Mutation_p.E420K	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	452					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCGGCCTCCTCCGGTGGCCCC	0.647000													4	24					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657808	20657808	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:20657808G>A	ENST00000428453.1	-	0	2150																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAACCGGCTGGATACCTAGTG	0.498000													6	43					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631416	77631416	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77631416G>A	ENST00000296043.6	+	3	1384	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	144					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567000													7	43					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165503942	165503942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:165503942C>A	ENST00000264381.3	-	3	1841	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*	BCHE_ENST00000540653.1_Nonsense_Mutation_p.E21*	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	559					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTGTCATTTCCAAGACTTTT	0.358000													11	51					6.81908e-15	7.03477e-15	1	1	0
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111951193G>A	ENST00000377617.3	-	11	2167	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTCCCCCCGAGGGACTGGT	0.512000													37	49					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536443	62536443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62536443G>A	ENST00000430451.2	+	2	843	c.646G>A	c.(646-648)Gga>Aga	p.G216R	SYT16_ENST00000446982.2_Missense_Mutation_p.G216R|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	216								p.G216*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGAGAAAGGAAAGCAGAC	0.483000													51	116					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889933	23889933	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:23889933C>T	ENST00000532292.1	-	1	1242	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGAGAGCTCCCTGGGCTTTC	0.642000													8	23					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579040	44579040	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44579040G>A	ENST00000289547.4	-	2	1011	c.956C>T	c.(955-957)cCc>cTc	p.P319L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.P319L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P319L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P319L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	319					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCCTTCTTGGGGTCCACCAT	0.607000													32	81					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189304	38189304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38189304G>A	ENST00000355202.4	-	5	2323	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.L575L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATGATATATGAGGCTTGTGG	0.403000													10	36					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110590435	110590435	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110590435A>T	ENST00000369795.3	+	15	1627	c.1605A>T	c.(1603-1605)tcA>tcT	p.S535S	STRIP1_ENST00000369796.1_Silent_p.S440S|STRIP1_ENST00000461054.1_3'UTR	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CACCCACCTCAAAAGCCAAAA	0.502000													2	2					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421727	31421727	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31421727C>T	ENST00000389202.2	+	11	1144	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCCTCTTCCTGGGGGCTG	0.577000													24	88					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108276232	108276232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108276232G>A	ENST00000525729.1	-	4	406	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	C11orf65_ENST00000529391.1_Missense_Mutation_p.H162Y|C11orf65_ENST00000393084.1_Missense_Mutation_p.H162Y|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	162										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTAGAGAAATGGAATTCACTT	0.318000													14	69					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430653	44430653	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44430653C>T	ENST00000372622.3	+	7	582	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	172						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602000													34	114					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216269261	216269261	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:216269261C>T	ENST00000354785.4	-	20	3473	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	FN1_ENST00000446046.1_Missense_Mutation_p.R1035Q|FN1_ENST00000323926.6_Missense_Mutation_p.R1035Q|FN1_ENST00000356005.4_Missense_Mutation_p.R1035Q|FN1_ENST00000443816.1_Missense_Mutation_p.R1035Q|FN1_ENST00000421182.1_Missense_Mutation_p.R1035Q|FN1_ENST00000432072.2_Missense_Mutation_p.R1035Q|FN1_ENST00000359671.1_Missense_Mutation_p.R1035Q|FN1_ENST00000357009.2_Missense_Mutation_p.R1035Q|FN1_ENST00000345488.5_Missense_Mutation_p.R1035Q|FN1_ENST00000346544.3_Missense_Mutation_p.R1035Q|FN1_ENST00000336916.4_Missense_Mutation_p.R1035Q|FN1_ENST00000357867.4_Missense_Mutation_p.R1035Q			P02751	FINC_HUMAN	fibronectin 1	1035	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCCTCTTCGGGTAAGGCC	0.552000													17	50					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135811762	135811762	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:135811762G>A	ENST00000534469.1	-	3	515	c.134C>T	c.(133-135)tCa>tTa	p.S45L	AHI1_ENST00000488690.2_Splice_Site_p.S45_splice|AHI1_ENST00000457866.2_Splice_Site_p.S45_splice|AHI1_ENST00000528103.1_Missense_Mutation_p.S45L|AHI1_ENST00000367800.4_Splice_Site_p.S45_splice|AHI1_ENST00000327035.6_Splice_Site_p.S45_splice|AHI1_ENST00000367798.2_Splice_Site_p.S45_splice			Q8N157	AHI1_HUMAN	Abelson helper integration site 1	45						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTACTTACTGAGATGTTTTC	0.318000													29	140					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36986250	36986250	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:36986250G>A	ENST00000282516.8	+	10	3467	c.2968G>A	c.(2968-2970)Gga>Aga	p.G990R	NIPBL_ENST00000448238.2_Missense_Mutation_p.G990R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	990					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAAAAATAGGATTAGTTGA	0.353000													34	160					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2234517	2234517	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234517G>A	ENST00000378536.4	+	2	1142	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	357					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGCTGGCTGCGGACCTTGGCC	0.642000													16	45					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10206584	10206584	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10206584G>A	ENST00000418404.3	-	38	5759	c.5596C>T	c.(5596-5598)Ctt>Ttt	p.L1866F	MYH13_ENST00000252172.4_Missense_Mutation_p.L1866F|MYH13_ENST00000570743.1_Missense_Mutation_p.L1866F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1866					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGAGCCTAAGGATATTCTTG	0.577000													35	152					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156246880	156246880	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156246880G>A	ENST00000361813.5	-	4	594	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SMG5_ENST00000368267.4_Silent_p.L150L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	150					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACTGACCTATGAGGGGGTCAG	0.542000													13	40					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59945756	59945756	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59945756C>T	ENST00000528851.1	-	4	456	c.316G>A	c.(316-318)Gag>Aag	p.E106K	MS4A6A_ENST00000420732.2_Missense_Mutation_p.E106K|MS4A6A_ENST00000530839.1_Missense_Mutation_p.E106K|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E134K|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E61K|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E134K|MS4A6A_ENST00000323961.3_Missense_Mutation_p.E106K			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	106						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACCTTTTCTCTGTGGCGATT	0.393000													5	91					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884392	110884392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884392G>A	ENST00000265171.5	+	9	1821	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	EGF_ENST00000509793.1_Nonsense_Mutation_p.W417*|EGF_ENST00000503392.1_Nonsense_Mutation_p.W459*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	459	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCAGTATCCTGGGAATGTGAT	0.458000													25	113					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739520	38739520	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38739520C>T	ENST00000449082.2	-	27	5190	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1731					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGTGCTCTCCTCCGTGGCC	0.478000													10	40					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999724	144999724	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144999724C>T	ENST00000322810.4	-	31	4953	c.4784G>A	c.(4783-4785)cGc>cAc	p.R1595H	PLEC_ENST00000345136.3_Missense_Mutation_p.R1458H|PLEC_ENST00000356346.3_Missense_Mutation_p.R1444H|PLEC_ENST00000354958.2_Missense_Mutation_p.R1436H|PLEC_ENST00000527096.1_Missense_Mutation_p.R1481H|PLEC_ENST00000398774.2_Missense_Mutation_p.R1426H|PLEC_ENST00000357649.2_Missense_Mutation_p.R1462H|PLEC_ENST00000436759.2_Missense_Mutation_p.R1485H|PLEC_ENST00000354589.3_Missense_Mutation_p.R1458H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1595	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAACTGCAGGCGCACCACGCG	0.721000													4	6					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605614	50605614	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:50605614C>T	ENST00000444124.2	-	4	579	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	DDC_ENST00000380984.4_Missense_Mutation_p.E127K|DDC_ENST00000426377.1_Intron|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.E127K|DDC_ENST00000431062.1_Missense_Mutation_p.E127K	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	127	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.E127*(2)|p.E127S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTTGGTAGTTCCAGCATCTTC	0.567000													24	76					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215952	140215952	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140215952A>G	ENST00000525929.1	+	1	1984	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T662A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACAGCCACAGCCACCGT	0.657000													14	59					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612449	79612449	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79612449C>T	ENST00000328585.4	+	0	558				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCTGGGGGCATCCTTGCCT	0.687000													12	7					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484409	43484409	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484409C>T	ENST00000395891.1	+	11	2243	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	HECW1_ENST00000453890.1_Silent_p.I546I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.I525I(1)|p.I546I(1)		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						AGACGGTGATCGCGTCAGCCT	0.687000													5	50					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77464883	77464883	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:77464883C>T	ENST00000299543.7	+	5	885	c.738C>T	c.(736-738)acC>acT	p.T246T	CTDP1_ENST00000075430.7_Silent_p.T246T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	246	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACGTCTTCACCTTCGGCAGCC	0.607000													10	35					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21208926	21208926	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208926C>T	ENST00000574002.1	-	20	2595	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	ZP2_ENST00000219593.4_Missense_Mutation_p.G705R|ZP2_ENST00000574091.1_Missense_Mutation_p.G696R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	705					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTGTGCCCTTTGGTGTCC	0.478000													10	73					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018644	1018644	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1018644G>T	ENST00000421673.2	-	31	4207	c.4157C>A	c.(4156-4158)aCa>aAa	p.T1386K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1386	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTCTCTGTGGCTGTGGG	0.627000													38	175					9.62906e-15	9.92985e-15	1	1	0
GTSF1	121355	broad.mit.edu	37	12	54857043	54857043	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857043G>A	ENST00000552397.1	-	4	1052	c.156C>T	c.(154-156)ccC>ccT	p.P52P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Silent_p.P52P			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GAGCATTGAAGGGACAAGTAG	0.423000													13	89					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371183	143371183	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:143371183G>A	ENST00000316549.6	-	6	877	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	223					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGTTCATGGAAAATGGCCA	0.473000													8	21					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782215	107782215	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:107782215G>A	ENST00000311955.3	-	1	258	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	68					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGAAGTAGGGGGTGTGATTG	0.587000													39	72					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140323432	140323432	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140323432C>T	ENST00000341349.2	+	4	648	c.468C>T	c.(466-468)tcC>tcT	p.S156S	NOXA1_ENST00000392815.2_Silent_p.S156S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	156	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGGAGGGGTCCCTGAATGGCC	0.622000													3	11					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102626030	102626030	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:102626030G>A	ENST00000330847.1	+	7	1839	c.1795G>A	c.(1795-1797)Gta>Ata	p.V599I	NR4A3_ENST00000395097.2_Missense_Mutation_p.V588I			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	588					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGTGCCCTGGTAGAACTGAG	0.532000			T	EWSR1	extraskeletal myxoid chondrosarcoma								18	28					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543494	182543494	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:182543494C>T	ENST00000295108.3	-	2	551	c.94G>A	c.(94-96)Gag>Aag	p.E32K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	32					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGTGCTCCTCGTCCTGAGAA	0.577000													9	20					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674609	71674609	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674609C>T	ENST00000299952.4	+	3	955	c.912C>T	c.(910-912)gcC>gcT	p.A304A	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	307	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TCACGGAGGCCGCCTTCAGCC	0.557000													22	31					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215610516	215610516	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:215610516T>C	ENST00000260947.4	-	8	1874	c.1740A>G	c.(1738-1740)gaA>gaG	p.E580E	BARD1_ENST00000449967.2_Silent_p.E436E	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	580	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTGTTGTTCTGAAGACA	0.403000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				39	170					0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45931708	45931708	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45931708G>A	ENST00000241041.3	-	11	990	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGTAGGCACGGAGAGGCCGCA	0.672000													20	34					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155486520	155486520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155486520G>A	ENST00000461783.3	+	11	3611	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	TIAM2_ENST00000528391.2_Missense_Mutation_p.E92K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E780K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E780K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E132K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E780K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E780K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E92K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	780					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)		AAAAGGCAAGGAGAAGAGACC	0.463000													20	78					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898678	94898678	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94898678G>A	ENST00000289495.5	+	12	3079	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E973K|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E995K|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E973K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	943	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTCAAGAAGAACCACTGGA	0.488000										HNSCC(28;0.073)			18	75					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58814436	58814436	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58814436C>T	ENST00000355431.3	+	15	1617	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ARID4A_ENST00000431317.2_Missense_Mutation_p.P415L|ARID4A_ENST00000348476.3_Missense_Mutation_p.P415L|ARID4A_ENST00000395168.3_Missense_Mutation_p.P415L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	415					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACCATGAACCAAAAGTAAAA	0.348000													32	75					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967305	41967305	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:41967305C>T	ENST00000298919.7	+	10	2332	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D	PDZRN4_ENST00000402685.2_Silent_p.D908D|PDZRN4_ENST00000539469.2_Silent_p.D650D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	908							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCGTGCGAGACCGAATCCTGA	0.517000													11	73					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941815	22941815	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22941815T>G	ENST00000397104.3	-	5	622	c.623A>C	c.(622-624)cAc>cCc	p.H208P	ZNF99_ENST00000596209.1_Missense_Mutation_p.H299P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAGTAAGGTGTGAGGATTG	0.358000													16	40					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47378140	47378140	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47378140C>T	ENST00000232766.5	+	7	1034	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	KLHL18_ENST00000455924.2_Silent_p.L226L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	338										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACGGGCTTCTCTATGCCATCG	0.592000													15	26					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30436629C>T	ENST00000278979.3	-	9	782	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607000													6	23					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057260	40057260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40057260C>T	ENST00000336649.4	+	19	2864	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	CACNA1I_ENST00000401624.1_Missense_Mutation_p.S949F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S949F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S914F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S914F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S914F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	949					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCCTGGGCTCCCGAAAGAGC	0.667000													18	18					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188704	57188704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:57188704C>T	ENST00000331162.4	-	5	688	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTATAACCTCCCTTGTGCACC	0.313000													34	155					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264687	76264687	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:76264687G>A	ENST00000274368.4	+	7	1368	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	316					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CAGTATCGGGGAATTCTGTTT	0.433000													9	56					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896527	56896527	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896527C>T	ENST00000301310.4	-	5	417	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E87K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGAAATAATTCCTTGGTATCA	0.353000													18	64					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													21	47					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55252653	55252653	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:55252653C>A	ENST00000371276.4	-	4	938	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	TTC22_ENST00000371274.4_Missense_Mutation_p.D279Y	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	279							binding	p.D279N(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGAGGGTCGGTCCCTGAG	0.642000													6	8					0.00116845	0.00117846	1	1	0
MCAM	4162	broad.mit.edu	37	11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119183335C>T	ENST00000392814.1	-	2	1339	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MCAM_ENST00000264036.4_Missense_Mutation_p.E255K			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.E255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577000													23	144					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907779	12907779	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12907779C>T	ENST00000317869.6	-	2	589	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGTACATTCCATCATAATAA	0.498000													13	61					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061286	11061286	+	Silent	SNP	G	G	A	rs140528790		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11061286G>A	ENST00000390677.2	-	1	875	c.612C>T	c.(610-612)tcC>tcT	p.S204S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	204					sensory perception of taste	integral to membrane	taste receptor activity	p.S204S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTTTCTGCAGGGAGAAAATTA	0.398000													31	69					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348150	156348150	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156348150C>T	ENST00000400992.2	+	4	905	c.537C>T	c.(535-537)cgC>cgT	p.R179R	RHBG_ENST00000451864.2_Silent_p.R179R|RHBG_ENST00000255013.3_Silent_p.R142R|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Silent_p.R211R|RHBG_ENST00000368249.1_Silent_p.R211R			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	211					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAAGCACCGCCAGGGCTCCG	0.622000													15	128					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11105536	11105536	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11105536T>C	ENST00000400897.3	-	4	488	c.473A>G	c.(472-474)aAc>aGc	p.N158S	MASP2_ENST00000400898.3_Missense_Mutation_p.N158S	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	158	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCCAGGTGGTTGTGGCAGTG	0.682000													12	22					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35632248	35632248	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632248G>A	ENST00000373664.3	-	21	2959	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	RBL1_ENST00000344359.3_Missense_Mutation_p.P965S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	965					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTGGAAAAGGAGAGAGTGGT	0.398000													13	50					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62577101	62577101	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62577101G>A	ENST00000262435.9	-	8	765	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	193					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGAATATTCGGATGCCGGTCT	0.383000													13	75					0	0	1	0	0
TRAV35	28647	broad.mit.edu	37	14	22690138	22690138	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22690138G>A	ENST00000390462.1	+	0	97																											GTTTATCCAGGAAGGAGAAGA	0.438000													33	57					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974629	64974629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:64974629G>A	ENST00000399262.2	-	8	1516	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P251L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P214L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P214L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	433					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGATCCCAGGGAGGCTGGCT	0.363000													41	59					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925040	25925040	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925040C>T	ENST00000356865.6	-	21	4059	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACTGCATCTCCTGGGGGACT	0.542000													13	100					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106826181	106826181	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:106826181A>G	ENST00000228347.4	+	15	1772	c.1550A>G	c.(1549-1551)aAc>aGc	p.N517S	POLR3B_ENST00000539066.1_Missense_Mutation_p.N459S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	517					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAGCCAGTAACTTGGGAGTA	0.368000													68	105					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19083337	19083337	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19083337G>T	ENST00000321998.5	+	2	227	c.161G>T	c.(160-162)cGg>cTg	p.R54L	COQ7_ENST00000569127.1_Missense_Mutation_p.R31L|COQ7_ENST00000568985.1_Missense_Mutation_p.R54L|COQ7_ENST00000544894.2_Missense_Mutation_p.R16L	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	54	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CGAATAATCCGGGTGGATCAT	0.522000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	131					0.150653	0.151212	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112018730	112018730	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018730G>A	ENST00000374566.3	-	8	1300	c.783C>T	c.(781-783)tcC>tcT	p.S261S	EPB41L4B_ENST00000374557.4_Silent_p.S261S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTCAGATAGGAGAGTTCCG	0.473000													24	123					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610464	78610464	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78610464C>T	ENST00000396137.4	+	9	2911	c.2449C>T	c.(2449-2451)Cct>Tct	p.P817S	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	817	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tcccccacctcctccccctcc	0.527000													11	27					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24647314	24647314	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24647314C>T	ENST00000311457.3	+	13	1478	c.879C>T	c.(877-879)ccC>ccT	p.P293P	REC8_ENST00000559919.1_Silent_p.P293P			O95072	REC8_HUMAN	REC8 meiotic recombination protein	294	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCCAGTCCCCCCACCTCCTC	0.612000													10	67					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627527	40627527	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627527C>T	ENST00000397536.2	-	7	842	c.807G>A	c.(805-807)caG>caA	p.Q269Q	C15orf52_ENST00000559313.1_Silent_p.Q479Q			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	479								p.Q479Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCCTCTCTGTGGCTCAG	0.662000													36	58					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3760025	3760025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3760025G>A	ENST00000316757.3	-	2	438	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	80					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGACAGGGGGCTCCACCT	0.627000													10	34					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56377846	56377846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:56377846G>A	ENST00000262494.7	+	8	1309	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	350					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AACCTGCGGGGCTGTGGACTC	0.627000													6	54					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105789574	105789574	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:105789574A>T	ENST00000393127.2	+	11	1852	c.1406A>T	c.(1405-1407)gAt>gTt	p.D469V	GRIA4_ENST00000525187.1_Missense_Mutation_p.D469V|GRIA4_ENST00000530497.1_Missense_Mutation_p.D469V|GRIA4_ENST00000282499.5_Missense_Mutation_p.D469V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	469					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTGTCCCTGATGGAAAATAT	0.358000													14	34					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149772279C>T	ENST00000451292.1	+	23	3745	c.3637C>T	c.(3637-3639)Ccc>Tcc	p.P1213S	TCOF1_ENST00000377797.3_Missense_Mutation_p.P1177S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P1176S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P1099S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1139S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1176S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1100S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1176					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637000													4	25					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180968	142180968	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142180968G>A	ENST00000390368.2	-	0	48																											GCTGCATGACGGAGGGGTCTT	0.582000													9	37					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158922890	158922890	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158922890G>C	ENST00000367097.3	+	13	3552	c.2195G>C	c.(2194-2196)gGg>gCg	p.G732A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	732					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTGTAGGGACAGCAGAA	0.572000													22	106					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733935	28733935	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:28733935C>T	ENST00000550043.1	+	0	340																											CGGAGTAGCTCCAAGAGTTCT	0.483000													21	89					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64436058	64436058	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64436058C>T	ENST00000265459.6	-	8	1677	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	NRXN2_ENST00000409571.1_Missense_Mutation_p.G399R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G406R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G375R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	406	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTCAGGATCCCGTCCACCGAG	0.572000													23	100					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090371	114090371	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114090371G>A	ENST00000374428.1	-	1	429	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	OR2K2_ENST00000302681.1_Silent_p.L115L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCACGGCCAGGAGCACACAC	0.517000													13	37					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548706	61548706	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61548706C>T	ENST00000278836.5	+	21	2765	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L	MYRF_ENST00000265460.5_Missense_Mutation_p.P855L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.P281L	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGTTCCTCACCCACTAccaac	0.607000													26	82					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133093	51133093	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133093G>A	ENST00000338916.4	-	3	1643	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	SYT3_ENST00000593901.1_Missense_Mutation_p.P337L|SYT3_ENST00000544769.1_Missense_Mutation_p.P337L|SYT3_ENST00000600079.1_Missense_Mutation_p.P337L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTTGACGTAGGGGTCTGAGAA	0.612000													14	110					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027827	40027827	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40027827C>T	ENST00000181839.4	+	2	2446	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	CDK13_ENST00000340829.5_Missense_Mutation_p.P614L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	614					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCTTTGCCTCCCATGCTGCCT	0.398000													22	82					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100567228	100567228	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:100567228G>A	ENST00000548404.2	-	0	673				GOLGA2B_ENST00000397112.4_RNA																							CTCTGGGAGAGAGGCAGGGCC	0.443000													3	20					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917600	135917600	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135917600C>T	ENST00000372097.5	+	2	603	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	GTF3C5_ENST00000342018.8_Missense_Mutation_p.R94W|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R94W|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R85W	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	94						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAGAACGAGGCGGCAGAAAGG	0.572000													15	130					0	0	1	0	0
TSC22D3	1831	broad.mit.edu	37	X	106957811	106957811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957811G>A	ENST00000372383.4	-	3	908	c.541C>T	c.(541-543)Cct>Tct	p.P181S	TSC22D3_ENST00000315660.4_Missense_Mutation_p.P181S|TSC22D3_ENST00000514426.1_Missense_Mutation_p.P113S|TSC22D3_ENST00000372382.4_Missense_Mutation_p.P91S|TSC22D3_ENST00000372397.2_Missense_Mutation_p.P115S|TSC22D3_ENST00000506081.1_Missense_Mutation_p.P181S|TSC22D3_ENST00000372384.2_Missense_Mutation_p.P181S|TSC22D3_ENST00000372390.4_Missense_Mutation_p.P58S	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	115							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GGCTCTTCAGGGCTCAGACAG	0.592000													105	21					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834438	125834438	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834438C>T	ENST00000299308.3	+	2	501	c.493C>T	c.(493-495)Cct>Tct	p.P165S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGCTTTCCCTGAGGCCAG	0.582000													31	130					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47345268	47345268	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:47345268G>A	ENST00000320640.6	-	10	1181	c.953C>T	c.(952-954)cCa>cTa	p.P318L	ITFG1_ENST00000544001.2_Missense_Mutation_p.P205L|RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	318						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCCACAAATGGCACAAAGCC	0.393000													19	41					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253704	47253704	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:47253704G>A	ENST00000296861.2	-	2	1117	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	242					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTGGAGGAAGGGACTTCATGG	0.512000													5	44					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230540	60230540	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230540G>A	ENST00000534668.1	+	3	514	c.225G>A	c.(223-225)ggG>ggA	p.G75G	MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000389939.2_Silent_p.G75G|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Silent_p.G75G	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517000													28	163					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45213238	45213238	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45213238C>T	ENST00000497547.1	+	4	430	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	105					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GACCATGAATCGCGAGTGGAC	0.617000													23	86					0	0	1	0	0
THOC7	80145	broad.mit.edu	37	3	63823658	63823658	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63823658G>A	ENST00000295899.5	-	4	458	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	116	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348000													29	69					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175542	35175542	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35175542C>T	ENST00000505242.1	+	5	1094	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF302_ENST00000423823.2_Silent_p.I200I|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Silent_p.I244I|ZNF302_ENST00000457781.2_Silent_p.I200I			Q9NR11	ZN302_HUMAN	zinc finger protein 302	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAGAAAATCTATACATGCA	0.413000													36	149					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94860296	94860296	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:94860296C>T	ENST00000358746.2	-	16	1624		c.e16-1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTCTGAAAACTAAGCCACCA	0.368000													8	38					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35706178	35706178	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:35706178G>A	ENST00000373866.3	+	3	349	c.327G>A	c.(325-327)acG>acA	p.T109T	ARMC12_ENST00000288065.2_Silent_p.T136T|ARMC12_ENST00000373869.3_Silent_p.T109T			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	109							binding										CTTGTACTACGGATGACATCG	0.522000													17	56					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877078	38877078	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38877078C>T	ENST00000334928.6	-	3	956	c.824G>A	c.(823-825)gGc>gAc	p.G275D	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	275	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					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)			AGCAAAGAGGCCGCCGCCTCC	0.647000													11	35					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149210	42149210	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42149210C>T	ENST00000320955.6	-	52	8876	c.8649G>A	c.(8647-8649)caG>caA	p.Q2883Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2883					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				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)		TCCTGCGCTCCTGCAGGGGCT	0.647000													3	7					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019439	76019439	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019439G>A	ENST00000275560.3	-	11	2012	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	555	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CATCCCAGCGGATATGAGAGC	0.612000													9	96					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527338	7527338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7527338G>A	ENST00000313599.3	-	13	3166	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1037C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1047C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1037	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACTAGGCGGAGCCGTTTG	0.517000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	41					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922239	24922239	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922239G>A	ENST00000329468.2	+	1	1699	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCAGACCACAGACTCCCTGCC	0.542000													11	65					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101556903	101556903	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101556903G>A	ENST00000370449.4	+	7	795	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E228K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	228						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGATGTCTGGGAAGTTGATGA	0.527000													43	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7577153C>A	ENST00000420246.2	-	8	917	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G262V|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000269305.4_Missense_Mutation_p.G262V|TP53_ENST00000359597.4_Missense_Mutation_p.G262V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	262	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|GN -> PD (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(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)		CAGTAGATTACCACTACTCAG	0.517000		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)			6	3					0.0215528	0.021689	1	1	0
ENTPD2	954	broad.mit.edu	37	9	139944949	139944949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139944949G>A	ENST00000355097.2	-	6	863	c.816C>T	c.(814-816)acC>acT	p.T272T	ENTPD2_ENST00000312665.5_Silent_p.T272T	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	272						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCACTTGGGTGGAAAAGC	0.647000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021300	73021300	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021300C>T	ENST00000263674.3	+	1	1967	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTTGACAGCCACTCTGCGGA	0.637000													12	42					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899039	133899039	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133899039G>A	ENST00000220616.4	+	9	1462	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	TG_ENST00000377869.1_Silent_p.G474G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	474					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTGGAGGGAAATTTTTGG	0.468000													17	108					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364340	79364340	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:79364340C>T	ENST00000444841.1	-	0	285																											ACACTGCTCTCCTCACTCACA	0.547000													12	24					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937683	77937683	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77937683C>T	ENST00000361507.4	-	4	1120	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	GAB2_ENST00000340149.2_Silent_p.G307G	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	345					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGGCTGAGTCCCCAGGAGTGG	0.567000													11	80					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015719	21015719	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21015719C>T	ENST00000381545.3	+	8	877	c.658C>T	c.(658-660)Cca>Tca	p.P220S	LST3_ENST00000540229.1_Missense_Mutation_p.P220S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P220S|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P220S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	220					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATGATTGGTCCAGTCATTGG	0.333000													9	86					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217505	183217505	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183217505C>T	ENST00000341319.3	-	4	1055	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	340										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGGGGGTCCAGGCAGGTCA	0.577000													11	54					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111742	57111742	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57111742G>A	ENST00000454682.1	-	3	3853	c.3572C>T	c.(3571-3573)cCc>cTc	p.P1191L	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCCCCTTTGGGGGATGGGGT	0.627000			T	BCL6	NHL								29	165					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910958	101910958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:101910958C>T	ENST00000537097.1	+	6	2930	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S706L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S706L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S706L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	706	Glu-rich.					cytoplasm	protein binding	p.S706L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTGTCAATTCGTGGTTCTGG	0.473000													49	91					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37446912	37446912	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:37446912G>A	ENST00000379826.4	-	3	895	c.553C>T	c.(553-555)Ccg>Tcg	p.P185S	SMAD9_ENST00000350148.5_Missense_Mutation_p.P185S|SMAD9_ENST00000399275.2_Missense_Mutation_p.P185S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	185					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGAGCACGGAGGCTGCTGG	0.647000													12	41					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111290678	111290678	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:111290678C>A	ENST00000309957.2	+	10	997	c.983C>A	c.(982-984)aCc>aAc	p.T328N	CARKD_ENST00000470164.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGCCCCCGGACCACGACGCCC	0.607000													24	128					7.38237e-10	7.54401e-10	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	57003658	57003658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57003658G>A	ENST00000179765.5	-	11	2063	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.R654*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.R652*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.R624*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	654					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTTCGAGGTCGACCCCGTTTG	0.527000													8	28					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78293249	78293249	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78293249C>T	ENST00000319921.4	+	17	3302	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCCTCCTCCCTCGCCAAG	0.572000													19	53					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2779447	2779447	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779447G>A	ENST00000380605.2	-	2	329	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	89					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCACCAGTGGGGTGGGGCGA	0.572000													48	117					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117311	58117311	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58117311G>A	ENST00000332854.6	+	3	638	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGAAGCTTGATAATGGAGA	0.473000													20	96					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301166	222301166	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222301166T>C	ENST00000281821.2	-	13	2340	c.2299A>G	c.(2299-2301)Atg>Gtg	p.M767V	EPHA4_ENST00000409938.1_Missense_Mutation_p.M767V|EPHA4_ENST00000392071.4_Missense_Mutation_p.M716V|EPHA4_ENST00000409854.1_Missense_Mutation_p.M767V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	767	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTCGGGACATGCCAAAATCA	0.488000													20	23					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368285	183368285	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183368285C>T	ENST00000454652.1	+	4	527	c.141C>T	c.(139-141)tcC>tcT	p.S47S	KLHL24_ENST00000242810.6_Silent_p.S47S|KLHL24_ENST00000476808.1_Silent_p.S47S			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	47						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGGATCATCCCATGCCGAAA	0.403000													21	93					0	0	1	0	0
ARL4C	10123	broad.mit.edu	37	2	235404769	235404769	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:235404769G>A	ENST00000390645.2	-	1	928	c.462C>T	c.(460-462)acC>acT	p.T154T	ARL4C_ENST00000339728.3_Silent_p.T154T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	154					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACGTGATAGGTGGTGGCCG	0.622000													6	32					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960871	29960871	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29960871G>A	ENST00000253381.2	+	2	303	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	90					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAAGGTTCACGACAGACTACT	0.453000													15	109					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892181	9892181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:9892181G>A	ENST00000396573.2	-	12	2618	c.2309C>T	c.(2308-2310)cCt>cTt	p.P770L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P613L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P770L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P770L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	770					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTTCCAAGGAGAGCCTTT	0.557000													18	40					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024701	203024701	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024701C>T	ENST00000367240.2	+	15	2435	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	PPFIA4_ENST00000295706.4_Silent_p.S151S|PPFIA4_ENST00000599966.1_Silent_p.S151S|PPFIA4_ENST00000447715.2_Silent_p.S635S|PPFIA4_ENST00000414050.2_Silent_p.S364S|PPFIA4_ENST00000272198.6_Silent_p.S151S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	151					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGGCCCTGTCCCTGGCCAGCG	0.642000													3	42					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970986	57970986	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57970986G>A	ENST00000302592.6	-	1	667	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGTACAAAGGGGAAGATGAT	0.448000													18	87					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566784	103566784	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:103566784C>T	ENST00000380069.3	+	1	304	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	76										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGGCCTGTTCCGGCGAAGCT	0.677000													3	22					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335576	83335576	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83335576C>T	ENST00000261722.3	-	15	1982	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D	AP3B2_ENST00000535359.1_Missense_Mutation_p.G592D|AP3B2_ENST00000535348.1_Missense_Mutation_p.G560D|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	592					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGGGCCCCACCCTGCTCGGA	0.572000													33	65					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36250286	36250286	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36250286T>G	ENST00000544099.1	+	2	86	c.23T>G	c.(22-24)tTc>tGc	p.F8C	C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000536950.1_Missense_Mutation_p.F8C|C19orf55_ENST00000537459.1_Missense_Mutation_p.F8C|C19orf55_ENST00000396908.4_Missense_Mutation_p.F8C			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	8										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCAGTTTTCTCCATTCAA	0.592000													3	19					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220847	55220847	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55220847C>T	ENST00000413439.1	+	0	836																											ACTCTCTCAGCCCTGCCGAGC	0.532000													8	38					0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45681442	45681442	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45681442G>A	ENST00000006275.4	-	1	53	c.35C>T	c.(34-36)aCg>aTg	p.T12M	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.T12M|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.T12M|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.T12M	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	12					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CACCATCTCCGTGTGAAGAAA	0.652000													11	51					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636728	83636728	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:83636728C>T	ENST00000265362.3	-	10	1395	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G361R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	361	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						TAGTTGGGTCCATCCCTGTGG	0.433000													15	117					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685629	47685629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47685629C>T	ENST00000371883.3	-	4	1341	c.765G>A	c.(763-765)cgG>cgA	p.R255R	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.R253R|TAL1_ENST00000294339.3_Silent_p.R253R			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	253					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAGTCTTGGCCCGCTGGGTGC	0.627000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								5	12					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72141213	72141213	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:72141213G>T	ENST00000356056.5	-	39	7282	c.6810C>A	c.(6808-6810)acC>acA	p.T2270T	MYO9A_ENST00000424560.1_Silent_p.T2341T|MYO9A_ENST00000444904.1_Silent_p.T2251T|MYO9A_ENST00000564571.1_Silent_p.T2270T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2270	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						GTGACAACCTGGTCTTTGCCT	0.383000													14	75					2.62699e-14	2.70699e-14	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811010	140811010	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140811010C>T	ENST00000252085.3	+	1	826	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_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)			CCGCGCGCATCCGCGTGATGG	0.667000													11	57					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33975426	33975426	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33975426G>A	ENST00000382549.4	-	5	1053	c.711C>T	c.(709-711)tcC>tcT	p.S237S	C21orf59_ENST00000290155.3_Intron|C21orf59_ENST00000540881.1_Silent_p.S181S|C21ORF59_ENST00000607686.1_Intron			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CAGTTTGAAGGGAAATAACAA	0.313000													12	38					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203141	75203141	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75203141G>A	ENST00000336926.6	-	8	696	c.670C>T	c.(670-672)Ccg>Tcg	p.P224S	HIP1_ENST00000434438.2_Missense_Mutation_p.P224S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGATCAGCGGGGCGAGGCGG	0.547000			T	PDGFRB	CMML								28	48					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092317	186092317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:186092317G>A	ENST00000271588.4	+	81	12693	c.12464G>A	c.(12463-12465)gGa>gAa	p.G4155E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4155E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4155	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGTAGCAGGATCAAGCAGC	0.502000													7	26					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918579	51918579	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51918579C>T	ENST00000353836.5	-	7	1407	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G306R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G338R|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G338R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G313R|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G348R|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G248R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	396	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGTCCCCTCTGGGTC	0.657000													19	42					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374831	23374831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23374831C>T	ENST00000359890.3	-	6	634	c.439G>A	c.(439-441)Gag>Aag	p.E147K	RBM23_ENST00000399922.2_Missense_Mutation_p.E131K|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000555209.1_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	147					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGGCTCTTCTCTCTGAAATGA	0.383000													26	78					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153589715	153589715	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153589715G>A	ENST00000422373.1	-	21	3416	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	FLNA_ENST00000360319.4_Silent_p.P1056P|FLNA_ENST00000369850.3_Silent_p.P1056P|FLNA_ENST00000344736.4_Silent_p.P1056P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1056					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCAGAGGAAAGGGGCTGCCAG	0.632000													44	22					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427863	119427863	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427863G>A	ENST00000369429.3	-	8	1310	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	TBX15_ENST00000207157.3_Missense_Mutation_p.P328L			Q96SF7	TBX15_HUMAN	T-box 15	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTTTCAGAGGGCTGAGTGGC	0.572000													10	33					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693272	33693272	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33693272C>T	ENST00000451316.1	-	6	1246	c.711G>A	c.(709-711)agG>agA	p.R237R	IP6K3_ENST00000293756.4_Silent_p.R237R	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	237					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCGCACACTTCCTCATGTGGC	0.637000													4	19					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325361	57325361	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325361G>T	ENST00000326441.9	-	10	4812	c.4449C>A	c.(4447-4449)gaC>gaA	p.D1483E	PEG3_ENST00000598410.1_Missense_Mutation_p.D1359E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1357E|PEG3_ENST00000423103.2_Missense_Mutation_p.D1483E|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1483	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCCACACCGTCAGGCTCGT	0.493000													63	154					2.3441e-25	2.44245e-25	1	1	0
FAM124A	220108	broad.mit.edu	37	13	51826338	51826338	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:51826338G>A	ENST00000322475.8	+	3	969		c.e3+1		FAM124A_ENST00000280057.6_Splice_Site	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTCCTACAGGTACTGGGGGG	0.562000													7	17					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147635423	147635423	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:147635423T>A	ENST00000367481.3	+	13	1425	c.1317T>A	c.(1315-1317)aaT>aaA	p.N439K	STXBP5_ENST00000367480.3_Missense_Mutation_p.N439K|STXBP5_ENST00000321680.6_Missense_Mutation_p.N439K|STXBP5_ENST00000179882.6_Missense_Mutation_p.N110K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	439					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACGGAGGTAATTGGGGCTTGG	0.373000													41	132					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685393	48685393	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48685393G>A	ENST00000544264.1	-	21	7305	c.7025C>T	c.(7024-7026)cCc>cTc	p.P2342L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2337L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2337					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCCCGGGGAGAACTGGG	0.617000													33	92					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143053832	143053832	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143053832C>T	ENST00000409408.1	-	6	2518	c.810G>A	c.(808-810)agG>agA	p.R270R	FAM131B_ENST00000409346.1_Silent_p.R270R|FAM131B_ENST00000409578.1_Silent_p.R286R|FAM131B_ENST00000443739.2_Silent_p.R298R|FAM131B_ENST00000409222.3_Silent_p.R270R			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	270										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGCAGGGCCCCTTGCCAGGT	0.627000													30	144					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56184848	56184848	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184848G>A	ENST00000312253.1	-	1	860	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TATAGATTAGGGGGTTTAACA	0.363000													18	99					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950775	77950775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77950775C>T	ENST00000393684.3	-	4	645	c.254G>A	c.(253-255)gGg>gAg	p.G85E	ISM2_ENST00000493585.1_Missense_Mutation_p.G173E|ISM2_ENST00000429906.1_Missense_Mutation_p.G92E|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000342219.4_Missense_Mutation_p.G173E			Q6H9L7	ISM2_HUMAN	isthmin 2	173						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGTGGCATTCCCTGGGGTCAG	0.602000													14	102					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467448	33467448	+	Missense_Mutation	SNP	G	G	A	rs115753355	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467448G>A	ENST00000379471.2	-	13	1756	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	NOL6_ENST00000455041.2_Missense_Mutation_p.R505W|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	557					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCTCAGGCCGGAGAAGGAGT	0.602000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57099810	57099810	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:57099810C>T	ENST00000261556.6	+	13	1767	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.P83S	NM_017799.3	NP_060269.3			transmembrane protein 260																		CAAATTAGTTCCTTTGGAGAT	0.378000													31	51					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919992	51919992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51919992C>T	ENST00000353836.5	-	3	855	c.634G>A	c.(634-636)Gac>Aac	p.D212N	SIGLEC10_ENST00000525998.1_Missense_Mutation_p.D212N|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.D154N|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.D154N|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.D164N|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.D154N	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	212	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGTGAGGTCGGTGTTGTGG	0.632000													26	32					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214518	7214518	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:7214518G>A	ENST00000361972.4	-	18	2180	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S697F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	697					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACGAAAATGGATTTCCGTCG	0.602000													10	49					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74834236	74834236	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:74834236C>T	ENST00000290536.5	-	4	657	c.541G>A	c.(541-543)Gga>Aga	p.G181R	M1AP_ENST00000409585.1_Missense_Mutation_p.G181R|M1AP_ENST00000536235.1_Missense_Mutation_p.G181R|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TCTAGGATTCCCTTTGTGACC	0.433000													32	68					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134147017	134147017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134147017C>T	ENST00000220616.4	+	48	8326	c.8286C>T	c.(8284-8286)ggC>ggT	p.G2762G	TG_ENST00000519543.1_Silent_p.G895G|TG_ENST00000377869.1_Silent_p.G2705G|TG_ENST00000542445.1_Silent_p.G1132G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2762					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAACCAGGCTCTAAGACCT	0.537000													18	24					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36275453	36275453	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36275453G>A	ENST00000394571.2	+	8	1559	c.1559G>A	c.(1558-1560)aGa>aAa	p.R520K	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R434K|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R425K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	520					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGCTTCCCAAGACATTCGGGA	0.473000													10	54					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	rs149389156	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40945659G>A	ENST00000246914.5	+	12	2228	c.2207G>A	c.(2206-2208)cGg>cAg	p.R736Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542000													15	61					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44320587	44320587	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44320587C>G	ENST00000288390.2	+	2	611	c.264C>G	c.(262-264)ctC>ctG	p.L88L	SPATS1_ENST00000323108.8_Silent_p.L88L			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	88										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCTGGCCTCCCCAGAGTGT	0.507000													8	55					0	0	1	0	0
LRP11	84918	broad.mit.edu	37	6	150164231	150164231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150164231G>A	ENST00000239367.2	-	3	806	c.801C>T	c.(799-801)tcC>tcT	p.S267S	LRP11_ENST00000367368.2_Silent_p.S267S|LRP11_ENST00000546019.1_Silent_p.S12S	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	267	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CCTGTAGGTGGGACAGCTTCA	0.592000													12	28					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62257095	62257095	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62257095G>A	ENST00000474889.1	+	21	3424	c.3047G>A	c.(3046-3048)aGg>aAg	p.R1016K	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987K|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATGAAAGGGTAGTGATC	0.478000													10	37					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:139905595C>T	ENST00000297183.6	+	26	4631	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1503S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1503S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358000													10	53					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q|LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	591	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488000			T	BCL6	NHL								30	130					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184064422	184064422	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184064422G>C	ENST00000265593.4	-	24	2840	c.2669C>G	c.(2668-2670)cCt>cGt	p.P890R	CLCN2_ENST00000344937.7_Missense_Mutation_p.P873R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.P846R|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.P861R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	890						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGTCGGAAGGGCTGCCCTC	0.622000													6	52					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754132	6754132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:6754132G>A	ENST00000245908.6	-	8	1584	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y	SH2D3A_ENST00000437152.3_Missense_Mutation_p.H346Y	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	439					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCCTCCGTGTGGCTCCTTCGG	0.637000													9	14					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230539	60230539	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230539G>A	ENST00000534668.1	+	3	513	c.224G>A	c.(223-225)gGg>gAg	p.G75E	MS4A1_ENST00000532073.1_Missense_Mutation_p.G75E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G75E|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.G75E	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCCCAGCAGGGATCTATGCA	0.517000													28	160					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71020140	71020140	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71020140G>A	ENST00000344526.5	+	1	237	c.48G>A	c.(46-48)agG>agA	p.R16R	C4orf40_ENST00000502294.1_Silent_p.R16R|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	16						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTTTGCAAGGAAGGTAAGTA	0.303000													7	35					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101891804	101891804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:101891804G>A	ENST00000360264.3	+	24	4053	c.4033G>A	c.(4033-4035)Gag>Aag	p.E1345K	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E1176K|CUX1_ENST00000550008.2_Missense_Mutation_p.E1278K|CUX1_ENST00000549414.2_Missense_Mutation_p.E1312K|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E1232K|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.E1334K|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1334					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCCAGCTCGGAGGGCGACAG	0.721000													3	11					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22841080	22841080	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:22841080G>A	ENST00000400546.1	+	14	2121	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	NCAM2_ENST00000284894.7_Silent_p.L482L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	624	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCCCTATTTTGGAATACATTG	0.378000													8	23					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885876	45885876	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45885876G>A	ENST00000418234.2	-	12	2435	c.2357C>T	c.(2356-2358)aCc>aTc	p.T786I	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T786I	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	786	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCAGCACGGTGACCGACTC	0.687000													6	26					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913425	23913425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23913425G>A	ENST00000382298.3	-	10	5178	c.4590C>T	c.(4588-4590)ttC>ttT	p.F1530F	SACS_ENST00000402364.1_Silent_p.F780F|SACS_ENST00000382292.3_Silent_p.F1530F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1530					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)		CTGAATCTGAGAATTGAGAAT	0.373000													10	30					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42038041	42038041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42038041C>T	ENST00000220809.4	-	10	1308	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	PLAT_ENST00000429710.2_Nonsense_Mutation_p.W225*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.W288*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.W351*|PLAT_ENST00000524009.1_Nonsense_Mutation_p.W262*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.W305*|PLAT_ENST00000270189.6_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	351	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGAGAGAATCCAGCAGGAGCT	0.607000													21	86					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781032	135781032	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135781032G>A	ENST00000298552.3	-	15	2154	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	TSC1_ENST00000440111.2_Missense_Mutation_p.P645S|TSC1_ENST00000545250.1_Missense_Mutation_p.P594S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	645					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTTCCATTGGGGAGGTAGAG	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	106					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23930133	23930133	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23930133G>A	ENST00000382298.3	-	8	1206	c.618C>T	c.(616-618)atC>atT	p.I206I	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.I206I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	206					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)		CACCACTAAAGATACAAGGAA	0.333000													5	19					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202420	39202420	+	Missense_Mutation	SNP	G	G	A	rs138788331	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:39202420G>A	ENST00000351578.6	-	2	833	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	FYB_ENST00000512982.1_Missense_Mutation_p.P215S|FYB_ENST00000515010.1_Missense_Mutation_p.P215S|FYB_ENST00000540520.1_Missense_Mutation_p.P225S|FYB_ENST00000505428.1_Missense_Mutation_p.P215S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	215					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTCATGGGGCTTTCGTCT	0.527000													18	95					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493547	55493547	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493547A>C	ENST00000543010.1	+	6	624	c.481A>C	c.(481-483)Agg>Cgg	p.R161R	NLRP2_ENST00000427260.2_Silent_p.R138R|NLRP2_ENST00000538819.1_Silent_p.R137R|NLRP2_ENST00000537859.1_Silent_p.R139R|NLRP2_ENST00000339757.7_Silent_p.R139R|NLRP2_ENST00000391721.4_Silent_p.R137R|NLRP2_ENST00000448584.2_Silent_p.R161R|NLRP2_ENST00000263437.6_Silent_p.R158R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	161					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)		CAATAGGTGCAGGTATATATT	0.453000													132	338					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051154	141051154	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:141051154G>A	ENST00000239440.4	-	12	1902	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ARAP3_ENST00000513878.1_Missense_Mutation_p.H275Y|ARAP3_ENST00000508305.1_Missense_Mutation_p.H535Y	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	613					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGCTGGCTATGATCTGGGTAC	0.602000													9	37					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30554047	30554047	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30554047C>T	ENST00000326195.8	+	18	1962	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	ABCF1_ENST00000376545.3_Missense_Mutation_p.P579L|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	617					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTTCCAGACCCCCCACCACTC	0.582000													10	50					0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573412	143573412	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143573412G>A	ENST00000479870.1	-	2	498	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.S97F	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	97										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGTGCCAGGGATGGGTGTAC	0.562000													19	77					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950872	46950872	+	Silent	SNP	G	G	A	rs56138890		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46950872G>A	ENST00000311124.4	-	4	1115	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SLC19A1_ENST00000567670.1_Silent_p.S321S|SLC19A1_ENST00000380010.4_Silent_p.S321S|SLC19A1_ENST00000485649.2_Silent_p.S281S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	321					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCGGCGAAGGACGTGATGG	0.706000													3	12					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815563	23815563	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:23815563C>T	ENST00000264867.2	-	8	1662	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	515					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTTTCATCTTCGCTGTCATCA	0.413000													21	46					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96091343	96091343	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96091343A>T	ENST00000453304.1	-	15	2940	c.2592T>A	c.(2590-2592)caT>caA	p.H864Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	864	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCAGTCATGGCCTCTCG	0.587000													55	120					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11582619	11582619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11582619C>T	ENST00000423059.3	-	5	1830	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	527	TSP type-1 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTACAGTTTTCATAAGTACAA	0.393000										HNSCC(18;0.044)			23	48					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483065	93483065	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93483065C>T	ENST00000267615.6	-	4	375	c.202G>A	c.(202-204)Gac>Aac	p.D68N	ITPK1_ENST00000354313.3_Missense_Mutation_p.D68N|ITPK1_ENST00000556603.2_Missense_Mutation_p.D68N|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	68					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.D68N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCATTCTGGTCGGCTTCAAGG	0.597000													9	61					0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67859925	67859925	+	Silent	SNP	G	G	A	rs149134361		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:67859925G>A	ENST00000216446.4	-	4	563	c.423C>T	c.(421-423)acC>acT	p.T141T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	141	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AACGGATTCCGGTGTTGCTAT	0.582000													41	213					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76447632	76447632	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:76447632G>A	ENST00000389840.5	-	66	10735	c.10611C>T	c.(10609-10611)ttC>ttT	p.F3537F	DNAH17_ENST00000585328.1_Silent_p.F3546F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGACCAGGAAGTTGATGA	0.557000													58	143					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6591316	6591316	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6591316T>G	ENST00000254579.6	+	40	13505	c.12941T>G	c.(12940-12942)aTg>aGg	p.M4314R	DNHD1_ENST00000527990.2_Missense_Mutation_p.M4314R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4314					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGCTGCCATGCAAGAGCTG	0.572000													17	58					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740538	39740538	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740538G>A	ENST00000167586.6	-	3	822	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	246	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGGTAGGCCAGCTCCTCCTTC	0.552000													28	121					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78293250	78293250	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78293250C>T	ENST00000319921.4	+	17	3303	c.3162C>T	c.(3160-3162)tcC>tcT	p.S1054S	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACCCTCCTCCCTCGCCAAGG	0.577000													18	52					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125042818	125042818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125042818C>T	ENST00000344641.3	+	3	592	c.281C>T	c.(280-282)tCt>tTt	p.S94F	MRRF_ENST00000546115.1_Missense_Mutation_p.S94F|MRRF_ENST00000373727.1_Missense_Mutation_p.S94F|MRRF_ENST00000394315.3_Missense_Mutation_p.S94F|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373723.4_Missense_Mutation_p.S94F|MRRF_ENST00000373728.1_Missense_Mutation_p.S94F|MRRF_ENST00000373729.1_Missense_Mutation_p.S50F|MRRF_ENST00000373730.3_Missense_Mutation_p.S94F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	94					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GAAATGAAGTCTGTGATAGAA	0.408000													29	45					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142570156	142570156	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142570156C>T	ENST00000359396.3	-	14	2109	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	622					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCATACTCCCGTCCGCAG	0.627000													7	29					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65640076	65640076	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:65640076G>T	ENST00000308330.2	+	13	2733	c.2707G>T	c.(2707-2709)Ggc>Tgc	p.G903C		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	903	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTCGGACTGGCCTAACCAA	0.398000													18	100					6.94344e-10	7.10083e-10	1	1	0
FAM175B	23172	broad.mit.edu	37	10	126523370	126523370	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:126523370C>T	ENST00000298492.5	+	9	1123	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	360						BRISC complex	polyubiquitin binding			NS(1)	1						TGACCTTCCTCCTCCCCAAAG	0.488000													16	34					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29548871	29548871	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:29548871C>T	ENST00000358273.4	+	15	2028	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	NF1_ENST00000356175.3_Silent_p.L549L|NF1_ENST00000431387.4_Silent_p.L549L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	549			L -> P (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.L549fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCAGGCTCTGCTGGTTCT	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			25	33					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58196721	58196721	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58196721T>G	ENST00000282296.5	+	2	358	c.173T>G	c.(172-174)aTg>aGg	p.M58R	AC003006.7_ENST00000596085.1_Missense_Mutation_p.M42R|ZNF551_ENST00000356715.4_Missense_Mutation_p.M42R|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	58	KRAB.				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)		TGCGATGTGATGCTGGAGAAC	0.498000													38	257					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086388	55086388	+	Silent	SNP	C	C	T	rs143437645		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086388C>T	ENST00000251377.3	+	5	676	c.543C>T	c.(541-543)tcC>tcT	p.S181S	LILRA2_ENST00000251376.3_Silent_p.S181S|LILRA2_ENST00000391737.1_Silent_p.S169S|LILRA2_ENST00000391738.3_Silent_p.S181S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S181S(1)		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)		CCATCTTCTCCGTGGGCCCCG	0.567000													66	150					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86939149	86939149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86939149G>A	ENST00000234701.3	+	3	563	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.R71Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.R71P(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAGGAAAGCGATTTTATTTC	0.358000													17	31					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92187698	92187698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92187698G>A	ENST00000212355.4	-	8	1354	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P297S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P297S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	297					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATACTGTTAGGAGCCTGAAGA	0.308000													11	26					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594098	6594098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6594098C>T	ENST00000433363.2	-	10	1670	c.1437_splice	c.e10+1	p.M479_splice	SLC13A5_ENST00000573648.1_Splice_Site_p.M479_splice|SLC13A5_ENST00000381074.4_Splice_Site_p.M436_splice|SLC13A5_ENST00000293800.6_Splice_Site_p.M462_splice	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	479						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGTTACTTACCATGGAGGCAA	0.552000													27	107					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130313125	130313125	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130313125G>A	ENST00000358511.6	+	17	4502	c.4470_splice	c.e17-1	p.G1491_splice	COL6A6_ENST00000453409.2_Splice_Site_p.G1491_splice	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1491	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTAACTTTAGGGAAGCCCAGG	0.428000													10	64					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072818	96072818	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96072818C>T	ENST00000233379.4	+	3	528	c.375C>T	c.(373-375)ccC>ccT	p.P125P	FAHD2A_ENST00000447036.1_Silent_p.P125P	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	125							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGAACGTGCCCGTGCCCAAGG	0.572000													11	76					0	0	1	0	0
MIS12	79003	broad.mit.edu	37	17	5392534	5392534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5392534C>T	ENST00000381165.3	+	3	905	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	MIS12_ENST00000573759.1_Nonsense_Mutation_p.Q118*	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	118					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TCAGCATCTCCAGAAAGAAAT	0.378000													16	49					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43464702	43464702	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43464702G>A	ENST00000282041.5	-	30	5218	c.5184C>T	c.(5182-5184)tcC>tcT	p.S1728S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1728					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						GAGACAGCAGGGAGCAGAGCC	0.413000													15	29					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190366	27190366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190366G>A	ENST00000339276.4	+	1	734	c.663G>A	c.(661-663)caG>caA	p.Q221Q		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	221					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCATCATGCAGCTGCTGCGAG	0.637000													25	57					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123001925	123001925	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123001925C>T	ENST00000331738.7	-	5	596	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RSRC2_ENST00000354654.2_Missense_Mutation_p.E103K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	151	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTCTTCCGCTCCCTACTCCTG	0.463000													23	79					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021380	32021380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32021380G>A	ENST00000375244.3	-	25	8777	c.8576C>T	c.(8575-8577)tCc>tTc	p.S2859F	TNXB_ENST00000375247.2_Missense_Mutation_p.S2857F			P22105	TENX_HUMAN	tenascin XB	2906	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTGAGGGAGTCAGGGGT	0.652000													39	36					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423283	56423283	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56423283G>A	ENST00000588751.1	-	5	1924	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	NLRP13_ENST00000342929.3_Missense_Mutation_p.H634Y			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	634							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAATGTGAAATTGGAGA	0.408000													47	70					0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946651	2946651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2946651C>T	ENST00000396958.3	+	3	581	c.201C>T	c.(199-201)tcC>tcT	p.S67S	FLYWCH2_ENST00000293981.6_Silent_p.S67S|FLYWCH2_ENST00000572006.1_Silent_p.S67S	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	67										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GTGTCATGTCCCTGGGGGTGC	0.667000													33	52					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911532	88911532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911532C>A	ENST00000263321.5	+	1	913	c.411C>A	c.(409-411)taC>taA	p.Y137*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	137					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTTGCCTACCTCACTTTAG	0.443000													24	194					7.41945e-09	7.56762e-09	1	1	0
WAPAL	23063	broad.mit.edu	37	10	88260013	88260013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:88260013C>T	ENST00000298767.5	-	3	1459	c.987G>A	c.(985-987)tcG>tcA	p.S329S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	329	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATCTTTACTCGATTCACTGT	0.458000													16	80					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148023	34148023	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34148023A>G	ENST00000346193.3	-	1	2424	c.2373T>C	c.(2371-2373)gaT>gaC	p.D791D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	791										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTGCCTAATCTTCTTCCG	0.383000													17	7					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832611	40832611	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832611C>T	ENST00000332438.4	-	2	68	c.49G>A	c.(49-51)Gat>Aat	p.D17N	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	17						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAA	0.592000													6	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446509	179446509	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179446509G>A	ENST00000589042.1	-	316	66710	c.66486C>T	c.(66484-66486)ttC>ttT	p.F22162F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F20521F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.F13097F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.F19594F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.F13222F|TTN_ENST00000342175.6_Silent_p.F13289F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20521	Fibronectin type-III 60.						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)			ATACTTTAGGGAAAGCCGGTG	0.438000													4	18					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504695	151504695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:151504695C>T	ENST00000317605.4	+	1	1619	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	172					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCAAATCACTCCGGCGTTCAA	0.637000													10	46					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83226688	83226688	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226688G>A	ENST00000563800.1	-	4	2234	c.509C>T	c.(508-510)cCc>cTc	p.P170L	CPEB1_ENST00000568128.1_Missense_Mutation_p.P143L|CPEB1_ENST00000398591.2_Missense_Mutation_p.P68L|CPEB1_ENST00000562019.1_Missense_Mutation_p.P143L|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.P146L|CPEB1_ENST00000568757.1_Missense_Mutation_p.P68L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.P68L|CPEB1_ENST00000450751.2_Missense_Mutation_p.P68L|CPEB1_ENST00000423133.2_Missense_Mutation_p.P68L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	143					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAAGCTCAAGGGGGGTTTTCC	0.527000													48	36					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57151428	57151428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57151428C>T	ENST00000535318.2	+	6	817	c.456C>T	c.(454-456)tcC>tcT	p.S152S	CPNE2_ENST00000565874.1_Silent_p.S152S|CPNE2_ENST00000290776.8_Silent_p.S152S|CPNE2_ENST00000537605.1_Silent_p.S50S			Q96FN4	CPNE2_HUMAN	copine II	152	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGGAGCTGTCCGACAACCGCG	0.652000													8	27					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16612055C>T	ENST00000221671.3	+	2	608	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S151F	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	151										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACAAAACTTCCCAGAATCAA	0.483000													24	21					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214625317	214625317	+	Splice_Site	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214625317T>G	ENST00000366956.5	-	3	369	c.174_splice	c.e3-1	p.T59_splice	PTPN14_ENST00000543945.1_Splice_Site_p.T59_splice	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	59	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAGTAGTGCGTCTAGATAAAA	0.488000													16	49					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118295	93118295	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93118295C>T	ENST00000216487.7	+	6	1060	c.901C>T	c.(901-903)Cct>Tct	p.P301S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	301	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ccctgtgctccctgctcttgc	0.731000													5	17					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743028	49743028	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49743028G>A	ENST00000549441.2	+	3	1577	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.G125S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	125					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGCTGCTGTTGGCAACCAGAC	0.527000													28	168					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524699	35524699	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35524699G>A	ENST00000415950.3	+	3	504	c.504G>A	c.(502-504)agG>agA	p.R168R	SCN1B_ENST00000262631.5_Intron|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	46					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGATGGAGGGACAGATGGC	0.647000													9	49					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416196	96416196	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:96416196T>G	ENST00000602402.1	+	9	1181	c.1064T>G	c.(1063-1065)aTg>aGg	p.M355R	DNAJC3_ENST00000376795.6_Missense_Mutation_p.M304R	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	355					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGAGGAAATGTATGATGAA	0.353000													29	49					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216580	111216580	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111216580G>A	ENST00000369769.2	-	1	1075	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	284						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTGCGCGGGACCCCGACG	0.627000													11	54					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874001	48874001	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48874001T>C	ENST00000394754.1	+	8	3024	c.2910T>C	c.(2908-2910)ggT>ggC	p.G970G	LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G970G|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G970G|GTF2A1L_ENST00000403751.3_Silent_p.G266G|GTF2A1L_ENST00000430487.2_Silent_p.G232G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G970G|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G923G	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		923					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTCAGTGGTTCAGCTAGCA	0.453000													20	44					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5966446	5966446	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5966446C>T	ENST00000379999.5	+	18	2828	c.2724C>T	c.(2722-2724)tgC>tgT	p.C908C	FBXO18_ENST00000397269.3_Silent_p.C344C|FBXO18_ENST00000362091.4_Silent_p.C857C|FBXO18_ENST00000379994.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	857					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAGAAAAATGCCATATAGAAG	0.433000													9	24					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326862	114326862	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:114326862T>C	ENST00000297405.5	-	2	583	c.339A>G	c.(337-339)gaA>gaG	p.E113E	CSMD3_ENST00000352409.3_Silent_p.E113E|CSMD3_ENST00000455883.2_Silent_p.E113E|CSMD3_ENST00000343508.3_Silent_p.E73E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	113	CUB 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						CGTATTCTTCTTCTAGAGCAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	91					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298178	167298178	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298178C>T	ENST00000409855.1	-	14	2011	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	629					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D629Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGACCAAGTCTTTCAGGGCC	0.388000													43	46					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047597	11047597	+	RNA	SNP	T	T	G	rs61660722		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:11047597T>G	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGATTGTCTAAAAAGTAAG	0.353000													30	390					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480173	128480173	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128480173G>A	ENST00000325888.8	+	9	1769	c.1508G>A	c.(1507-1509)gGt>gAt	p.G503D	FLNC_ENST00000346177.6_Missense_Mutation_p.G503D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	503					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTTACCAAGGGTGCCGGCAGC	0.637000													52	90					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375660	104375660	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:104375660C>T	ENST00000361820.3	-	6	3364	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	922					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)	TTCCATACCTCCGTGACAGCA	0.433000													12	60					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922353	24922353	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922353A>C	ENST00000329468.2	+	1	1813	c.1339A>C	c.(1339-1341)Aca>Cca	p.T447P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACTTTCCACCACACCAAAAAT	0.502000													15	95					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183843628	183843628	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:183843628G>A	ENST00000360982.2	-	15	2133	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	NCKAP1_ENST00000361354.3_Missense_Mutation_p.P453S	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	453					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCTTCAGGGCAAACAGAA	0.313000													8	48					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196796106	196796106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196796106G>A	ENST00000320493.5	+	3	489	c.401G>A	c.(400-402)tGg>tAg	p.W134*	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W134*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	134	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAACGGGGCTGGTCCACCCCT	0.388000													28	68					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156236039	156236039	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156236039C>T	ENST00000361813.5	-	12	1532	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	463	Poly-Arg.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGGTGGGTGGCGGCGACGGCG	0.602000													14	114					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947405	237947405	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237947405C>G	ENST00000366574.2	+	90	12710	c.12393C>G	c.(12391-12393)ccC>ccG	p.P4131P	RYR2_ENST00000360064.6_Silent_p.P4137P|RYR2_ENST00000542537.1_Silent_p.P4115P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4131					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)			ATTTCCAGCCCTTTCTGGGCC	0.527000													11	50					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156179	1156179	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1156179C>T	ENST00000356191.2	+	6	502	c.502C>T	c.(502-504)Cct>Tct	p.P168S						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)		AGTCTGGGGTCCTCATTCAGC	0.652000													7	44					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816816	101816816	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816816C>T	ENST00000370418.3	-	6	1216	c.965G>A	c.(964-966)cGg>cAg	p.R322Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CAGCCACTCCCGCTGTAACTC	0.453000													191	95					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44881481	44881481	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44881481G>A	ENST00000261866.7	-	28	4891	c.4875C>T	c.(4873-4875)ctC>ctT	p.L1625L	SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Silent_p.L1625L|SPG11_ENST00000535302.2_Silent_p.L1625L|SPG11_ENST00000558319.1_Silent_p.L1625L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1625					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCAACAAAGAGCTGTAAAA	0.408000													16	77					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275791	77275791	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77275791G>T	ENST00000251089.2	-	2	372	c.260C>A	c.(259-261)gCc>gAc	p.A87D	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	87										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGCTCTGGGCTAGTCCTTT	0.567000													9	53					0.00621372	0.00626463	1	1	0
TNXB	7148	broad.mit.edu	37	6	32024532	32024532	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32024532G>A	ENST00000375244.3	-	23	8175	c.7974C>T	c.(7972-7974)ttC>ttT	p.F2658F	TNXB_ENST00000375247.2_Silent_p.F2658F			P22105	TENX_HUMAN	tenascin XB	2718	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGACCAGGAAGTGGTCAA	0.647000													24	35					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132593163	132593163	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:132593163C>T	ENST00000376625.4	+	2	1357	c.1331C>T	c.(1330-1332)gCc>gTc	p.A444V	EP400NL_ENST00000443539.2_Missense_Mutation_p.A312V|EP400NL_ENST00000389560.2_Missense_Mutation_p.A375V|EP400NL_ENST00000392352.1_Missense_Mutation_p.A312V|EP400NL_ENST00000361109.5_Missense_Mutation_p.A291V					EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ACTCCTGTTGCCATAGCAACC	0.552000													4	9					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81584977	81584977	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:81584977C>T	ENST00000394660.2	+	12	1861	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	IL16_ENST00000302987.4_Missense_Mutation_p.R501C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	501					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCCCCGCATCGCAGGGCTCA	0.602000													15	58					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104645324	104645324	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:104645324T>A	ENST00000525566.1	+	2	135	c.111T>A	c.(109-111)ggT>ggA	p.G37G	TXNRD1_ENST00000526006.1_3'UTR|TXNRD1_ENST00000429002.2_Silent_p.G37G	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	37					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						ATCACCCTGGTAAAACTTTGC	0.433000													10	31					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75301841	75301841	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:75301841C>T	ENST00000393422.2	-	1	110	c.38G>A	c.(37-39)aGg>aAg	p.R13K		NM_001170715.1	NP_001164186.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	276	SH3.				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)		GGGTGTGGGCCTGGGGGCAGC	0.617000													3	15					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528996	101528996	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528996C>T	ENST00000284395.5	+	6	982	c.582C>T	c.(580-582)ccC>ccT	p.P194P	LRRK1_ENST00000532029.2_Silent_p.P197P|LRRK1_ENST00000388948.3_Silent_p.P197P			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCGCTTGCCCCTGTATGCGG	0.587000													15	7					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32742008	32742008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32742008G>A	ENST00000333070.4	+	8	802	c.702G>A	c.(700-702)tgG>tgA	p.W234*	LCK_ENST00000373564.3_Intron|LCK_ENST00000336890.5_Nonsense_Mutation_p.W234*	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	234	Interaction with PTPRH.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGCCGTGGTGGGAGGACGAGT	0.662000			T	TRB@	T-ALL								6	21					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23312536	23312536	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23312536C>T	ENST00000311852.6	+	5	1020	c.759C>T	c.(757-759)ccC>ccT	p.P253P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	253						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAGTGACCCCTCGGCCATCA	0.577000													23	79					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862734	8862734	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862734C>T	ENST00000396600.2	+	11	1658	c.720C>T	c.(718-720)tcC>tcT	p.S240S	ABAT_ENST00000567812.1_Silent_p.S255S|ABAT_ENST00000268251.8_Silent_p.S240S|ABAT_ENST00000569156.1_Silent_p.S240S|ABAT_ENST00000425191.2_Silent_p.S240S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	240					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACATCCCTTCCTTTGACTGGC	0.527000													117	220					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981195	44981195	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44981195G>A	ENST00000221327.4	-	5	1784	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ZNF180_ENST00000391956.4_Silent_p.S476S|ZNF180_ENST00000592529.1_Silent_p.S474S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383000													23	69					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106754	55106754	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55106754C>T	ENST00000453777.1	+	5	718	c.548C>T	c.(547-549)tCt>tTt	p.S183F	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S183F	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCTGTGGGCCCC	0.567000													107	144					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830222	830222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:830222C>T	ENST00000293892.3	-	3	778	c.779G>A	c.(778-780)tGg>tAg	p.W260*	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	505					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATCCGGGTCCCAGGGTGGACC	0.672000													7	11					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919368	57919368	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919368G>A	ENST00000355673.3	+	6	973	c.617G>A	c.(616-618)aGg>aAg	p.R206K	MBD6_ENST00000431731.2_Missense_Mutation_p.R206K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTCCTCCCAAGGGGCAATGCC	0.647000													28	89					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58143574	58143574	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58143574G>A	ENST00000184956.6	-	9	1428	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	HEATR6_ENST00000585976.1_Missense_Mutation_p.P471L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	471							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCTTACCTTTGGAGAAGGGTC	0.383000													41	39					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874630	74874630	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74874630G>A	ENST00000331628.3	-	3	727	c.480C>T	c.(478-480)gaC>gaT	p.D160D	SYNDIG1L_ENST00000554823.1_Silent_p.D160D	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	160					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTCCCAGGTGGTCCCTGGGAG	0.577000													6	43					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51322539	51322539	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51322539G>C	ENST00000448701.2	-	6	1718	c.394C>G	c.(394-396)Cct>Gct	p.P132A	KLK1_ENST00000301420.2_Missense_Mutation_p.P234A			P06870	KLK1_HUMAN	kallikrein 1	234	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCCACAAGGGACGTAGCCC	0.582000													19	96					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105198279	105198279	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105198279A>G	ENST00000262903.4	-	20	2556	c.2280T>C	c.(2278-2280)ttT>ttC	p.F760F	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Silent_p.F545F	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	760	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCCCTGTAAAAAAGCATTGA	0.383000													10	36					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522980	23522980	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23522980G>A	ENST00000296682.3	+	8	1050	c.868G>A	c.(868-870)Gga>Aga	p.G290R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	290	SET.				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						AGCCAACAATGGATACTCCTG	0.512000										HNSCC(3;0.000094)			15	67					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590150	125590150	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590150G>A	ENST00000504087.1	-	4	5319	c.4282C>T	c.(4282-4284)Cca>Tca	p.P1428S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1249S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTATAATGGTGTTTCCTTT	0.378000													15	33					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745339	84745339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84745339G>A	ENST00000372142.2	+	11	1752	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	NRG3_ENST00000404547.1_Missense_Mutation_p.R714K|NRG3_ENST00000404576.2_Missense_Mutation_p.R494K|NRG3_ENST00000545131.1_Missense_Mutation_p.R340K|NRG3_ENST00000372141.2_Missense_Mutation_p.R690K|NRG3_ENST00000537893.1_Missense_Mutation_p.R340K|NRG3_ENST00000556918.1_Missense_Mutation_p.R520K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	714					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAATACAAAGAGACTCTGCA	0.418000													11	49					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851606	63851606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:63851606C>T	ENST00000279873.7	+	10	2794	c.2384C>T	c.(2383-2385)cCc>cTc	p.P795L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P552L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	795					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CACCTTAACCCCCTTGCTGAC	0.507000													75	60					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53588762	53588762	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:53588762C>T	ENST00000342160.3	-	54	7919	c.7462G>A	c.(7462-7464)Gag>Aag	p.E2488K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2488	Asp-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCATCCTCCCGGTCAAAG	0.458000													38	13					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41001235	41001235	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41001235C>T	ENST00000253799.3	+	2	1748	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	AOC2_ENST00000452774.2_Missense_Mutation_p.S574F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	574					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCTTTTTCCTTGGGAAGC	0.612000													22	42					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006531	103006531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:103006531C>T	ENST00000375735.2	+	17	2572	c.2428C>T	c.(2428-2430)Cca>Tca	p.P810S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P810S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	810	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)		CATCGGCATTCCAAATCAGTT	0.358000													6	39					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	126					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936418	209936418	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936418G>A	ENST00000367024.1	+	6	1073	c.557G>A	c.(556-558)gGa>gAa	p.G186E	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G186E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G166E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G166E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G166E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	186						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCCAGTTACGGAGTTGCAGTT	0.403000													5	47					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38145046	38145046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:38145046C>T	ENST00000264639.4	+	4	834	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PSMD3_ENST00000541736.1_Silent_p.F82F	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	220					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCTATGAGTTCCTGGACAAGC	0.547000													18	120					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898414	75898414	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:75898414C>T	ENST00000377636.3	-	11	2503	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.Q719Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	719	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACCTGAATTCTGGTAAAAGC	0.428000													15	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474103	179474103	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179474103C>T	ENST00000589042.1	-	273	52158	c.51934G>A	c.(51934-51936)Gaa>Aaa	p.E17312K	TTN_ENST00000591111.1_Missense_Mutation_p.E15671K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8247K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14744K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8372K|TTN_ENST00000342175.6_Missense_Mutation_p.E8439K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15671	Fibronectin type-III 25.						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)			ACAAATGGTTCTTCTTCTTGA	0.448000													4	52					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47861509	47861509	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47861509G>A	ENST00000378460.2	-	4	680	c.634C>T	c.(634-636)Cct>Tct	p.P212S	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.P98S|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.P98S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	212					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTGGAATTAGGAGATATTCCA	0.463000													21	88					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42890854	42890854	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42890854C>T	ENST00000304672.1	+	2	229	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	50						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCCTGGTCCTTGATGTTGC	0.602000													27	55					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926347	128926347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:128926347G>A	ENST00000356892.3	+	5	600	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	162										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAGCTTCGGGGAGGAACCAC	0.627000													29	102					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767143	88767143	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88767143C>A	ENST00000497649.2	+	6	1429	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	MEPE_ENST00000395102.4_Missense_Mutation_p.P406T|MEPE_ENST00000424957.3_Missense_Mutation_p.P375T|MEPE_ENST00000361056.3_Missense_Mutation_p.P375T|MEPE_ENST00000560249.1_Missense_Mutation_p.P262T|MEPE_ENST00000540395.1_Missense_Mutation_p.P262T|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	375					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTTTCATTACCCTCCTGCACC	0.443000													8	29					0.307466	0.308149	1	1	0
PRKCH	5583	broad.mit.edu	37	14	61952223	61952223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:61952223C>T	ENST00000332981.5	+	10	1667	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PRKCH_ENST00000555082.1_Missense_Mutation_p.R267C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	428	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TATCCAGGATCGTCTGTTTTT	0.473000													127	272					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4836803	4836803	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4836803C>T	ENST00000302640.8	+	52	7168	c.6818C>T	c.(6817-6819)tCg>tTg	p.S2273L	ITPR1_ENST00000443694.2_Missense_Mutation_p.S2273L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2225L|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2273L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2240L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2240L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCAGCATTTCGTTTAACCTG	0.527000													4	27					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804666	39804666	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39804666G>A	ENST00000248668.4	-	1	1310	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	437	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGATGAGCACGGAGTTCGAGG	0.642000													11	28					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25542804	25542804	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:25542804G>T	ENST00000330688.4	+	3	859	c.438G>T	c.(436-438)atG>atT	p.M146I	RARB_ENST00000404969.1_Missense_Mutation_p.M153I|RARB_ENST00000437042.2_Missense_Mutation_p.M34I|RARB_ENST00000458646.1_Missense_Mutation_p.M34I|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	153					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGTGGGAATGTCCAAAGAAT	0.403000													10	20					7.48243e-07	7.60035e-07	1	1	0
PRX	57716	broad.mit.edu	37	19	40900834	40900834	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40900834C>T	ENST00000324001.7	-	7	3695	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1142	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTCAGCCCCGCGTCATG	0.667000													10	39					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72843643	72843643	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72843643G>A	ENST00000293190.5	-	9	1951	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S602F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	602					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGCCACACGGACTTGCCGAT	0.632000													11	36					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128321983	128321983	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:128321983G>A	ENST00000265960.3	-	6	1109	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MAPKAP1_ENST00000373503.3_Silent_p.F67F|MAPKAP1_ENST00000373498.1_Silent_p.F259F|MAPKAP1_ENST00000350766.3_Silent_p.F259F|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Silent_p.F67F|MAPKAP1_ENST00000394060.3_Silent_p.F259F|MAPKAP1_ENST00000373511.2_Silent_p.F259F	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	259					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCAAAGTACTGAAGCCAAACT	0.483000													7	47					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475886	140475886	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140475886C>T	ENST00000194155.4	+	1	1660	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		504	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.687000													23	117					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47359002	47359002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47359002C>T	ENST00000545968.1	-	25	2596	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A847T|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A848T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	847	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGTTGACCGCGTAGACGCGC	0.662000													6	36					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793697	39793697	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:39793697G>A	ENST00000373272.2	+	13	1747	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	PLCG1_ENST00000244007.3_Missense_Mutation_p.G448R|PLCG1_ENST00000373271.1_Missense_Mutation_p.G448R	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	448	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTGCCGACGGGCTCCCCTC	0.597000													13	31					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242178142	242178142	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242178142G>A	ENST00000391975.1	-	20	2898	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	HDLBP_ENST00000391976.2_Missense_Mutation_p.P891S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P891S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P858S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	891	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAACCTTTGGGGCCCATGACA	0.473000													65	317					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135800	55135800	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55135800C>T	ENST00000314706.3	+	1	441	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGTAATGGCCTATGATCGAT	0.438000													33	176					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482421	20482421	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482421C>T	ENST00000305045.2	-	1	931	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTGGATTTCATTGAAAAGT	0.353000													58	135					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155338	151155338	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:151155338C>T	ENST00000282466.3	-	6	7010	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2337	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433000													41	69					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677989	100677989	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677989G>A	ENST00000306151.4	+	3	3356	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1098	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGCAC	0.517000													101	1018					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51643373	51643373	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:51643373T>G	ENST00000375695.2	+	12	2261	c.2108T>G	c.(2107-2109)gTg>gGg	p.V703G	MAGED1_ENST00000375772.3_Missense_Mutation_p.V647G|MAGED1_ENST00000326587.7_Missense_Mutation_p.V647G|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.V647G	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	647					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGATGAAAGTGCTGAGATTC	0.512000										Multiple Myeloma(10;0.10)			7	19					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520013	110520013	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110520013G>A	ENST00000378402.5	+	69	11220	c.11116G>A	c.(11116-11118)Gaa>Aaa	p.E3706K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3706					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)			AGCAGAATATGAATGGGACGG	0.433000										HNSCC(38;0.096)			20	117					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26029098	26029098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26029098C>T	ENST00000435504.4	-	4	545	c.252_splice	c.e4+1	p.K84_splice	ASXL2_ENST00000336112.4_Splice_Site_p.K56_splice|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATATTTACCTTCAAAGTAT	0.393000													9	21					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30927416	30927416	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30927416C>T	ENST00000399914.1	-	15	3040	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	GRIK1_ENST00000399909.1_Missense_Mutation_p.G840E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G857E|GRIK1_ENST00000389124.2_Missense_Mutation_p.G855E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G855E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G857E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G855E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G855E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G840E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	855					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATGAATTCTCCAATAGCTAC	0.398000													13	45					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880374	39880374	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39880374C>T	ENST00000221265.3	-	4	528	c.198G>A	c.(196-198)ttG>ttA	p.L66L	PAF1_ENST00000595564.1_Silent_p.L56L|PAF1_ENST00000221266.7_Silent_p.L56L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	66					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTTTCTCCAAGGAAGTGG	0.552000													29	158					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35243343	35243343	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35243343C>T	ENST00000378495.3	+	6	672	c.450C>T	c.(448-450)gcC>gcT	p.A150A	UNC13B_ENST00000396787.1_Silent_p.A150A|UNC13B_ENST00000378496.4_Silent_p.A150A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	150					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAATCAATGCCTTGGGAGCTG	0.443000													25	131					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148004	27148004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:27148004G>A	ENST00000396352.4	-	3	1061	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.P288S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	288					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGCTCATACGGGACGCTGTTG	0.687000													14	66					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404489	197404489	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404489C>G	ENST00000367397.1	+	5	2497	c.1639C>G	c.(1639-1641)Ccc>Gcc	p.P547A	CRB1_ENST00000535699.1_Missense_Mutation_p.P1142A|CRB1_ENST00000544212.1_Missense_Mutation_p.P647A|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.P1166A|CRB1_ENST00000367399.2_Missense_Mutation_p.P1054A			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1166	Laminin G-like 1.				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						TTGCTCCTGTCCCTTGGGATG	0.473000													20	40					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2566793	2566793	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2566793G>A	ENST00000399655.1	+	5	943	c.678G>A	c.(676-678)ggG>ggA	p.G226G	CACNA1C_ENST00000327702.7_Silent_p.G226G|CACNA1C_ENST00000399595.1_Silent_p.G226G|CACNA1C_ENST00000399638.1_Silent_p.G226G|CACNA1C_ENST00000399641.1_Silent_p.G226G|CACNA1C_ENST00000399591.1_Silent_p.G226G|CACNA1C_ENST00000347598.4_Silent_p.G226G|CACNA1C_ENST00000399621.1_Silent_p.G226G|CACNA1C_ENST00000480911.1_Silent_p.G226G|CACNA1C_ENST00000399597.1_Silent_p.G226G|CACNA1C_ENST00000399601.1_Silent_p.G226G|CACNA1C_ENST00000399606.1_Silent_p.G226G|CACNA1C_ENST00000399603.1_Silent_p.G226G|CACNA1C_ENST00000399637.1_Silent_p.G226G|CACNA1C_ENST00000344100.3_Silent_p.G226G|CACNA1C_ENST00000399634.1_Silent_p.G226G|CACNA1C_ENST00000399649.1_Silent_p.G226G|CACNA1C_ENST00000406454.3_Silent_p.G226G|CACNA1C_ENST00000399644.1_Silent_p.G226G|CACNA1C_ENST00000399617.1_Silent_p.G226G|CACNA1C_ENST00000399629.1_Silent_p.G226G|CACNA1C_ENST00000402845.3_Silent_p.G226G|CACNA1C_ENST00000335762.5_Silent_p.G226G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	226					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557000													39	120					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581719	79581719	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581719G>A	ENST00000372391.2	-	15	2528	c.2523C>T	c.(2521-2523)tcC>tcT	p.S841S	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	841					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGTCTGCGTGGAGTTATTGT	0.522000													63	54					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802337	11802337	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11802337G>A	ENST00000306928.5	-	2	688	c.654C>T	c.(652-654)ccC>ccT	p.P218P		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTAGTGCCAAGGGGAGCACGA	0.647000													65	140					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118661444	118661444	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:118661444G>A	ENST00000355371.4	-	16	2002	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.S442L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S502L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	502					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTGGACTCTGAGGTGGCTAA	0.408000													4	25					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167698	140167698	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140167698C>T	ENST00000504120.2	+	1	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S608F|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCCTATGAACTG	0.677000													35	46					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620884	49620884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:49620884G>A	ENST00000371571.4	-	3	1519	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	412						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TAGCAGGCAGGGATGCTGGTG	0.647000													10	56					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121828255	121828255	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121828255G>A	ENST00000330540.2	+	5	963	c.847_splice	c.e5+1	p.G283_splice	CD86_ENST00000469710.1_Splice_Site_p.G201_splice|CD86_ENST00000393627.2_Splice_Site_p.G277_splice|CD86_ENST00000264468.5_Splice_Site_p.G70_splice|CD86_ENST00000493101.1_Splice_Site_p.G171_splice	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	283					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTATAAATGTGGTGAGTGAGT	0.473000													27	129					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617981	111617981	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:111617981G>A	ENST00000374667.3	-	1	1258	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	77						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.S77F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCCACGGTGGAGGAGATGAA	0.637000													20	138					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940685	22940685	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22940685G>A	ENST00000397104.3	-	5	1752	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	ZNF99_ENST00000596209.1_Missense_Mutation_p.P676S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGGTTTCTCTTCA	0.368000													21	22					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118111019	118111019	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118111019C>T	ENST00000278949.4	-	2	202	c.147G>A	c.(145-147)aaG>aaA	p.K49K	MPZL3_ENST00000527472.1_Silent_p.K37K|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	49	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGCATTTCAACTTGATCTTTT	0.423000													21	55					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351645	79351645	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:79351645T>A	ENST00000350881.2	+	3	520	c.330T>A	c.(328-330)caT>caA	p.H110Q	THBS4_ENST00000511733.1_Missense_Mutation_p.H19Q|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	110	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGGTGCATTTGGTGGTTT	0.567000													44	193					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88394947	88394947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88394947C>T	ENST00000418378.1	-	12	2546	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SPARCL1_ENST00000503414.1_Missense_Mutation_p.D534N|SPARCL1_ENST00000282470.6_Missense_Mutation_p.D659N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	659					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGATTTTCATCTATGTCCTCT	0.348000													29	114					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113323756	113323756	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113323756G>A	ENST00000264852.4	+	14	2063		c.e14-1		SIDT1_ENST00000463226.1_Splice_Site|SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGCCTGCATAGGAACATCATC	0.453000													19	114					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49800528	49800528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49800528C>T	ENST00000299338.6	-	11	1195	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264S	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATCCAAAAGCCTTTTTGAGGT	0.313000													10	112					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166447	10166447	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:10166447T>G	ENST00000343090.6	+	7	1077	c.1002T>G	c.(1000-1002)acT>acG	p.T334T	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	334					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCCCTACACTGTCACTCACC	0.647000													18	61					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136708318	136708318	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136708318G>A	ENST00000329582.4	+	4	691	c.442G>A	c.(442-444)Gat>Aat	p.D148N	IL20RB_ENST00000484501.1_3'UTR|IL20RB_ENST00000309741.5_Missense_Mutation_p.D101N	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	148	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GATCACCAAAGATGGCTTCCA	0.567000													9	55					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901498	51901498	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:51901498G>A	ENST00000268919.4	+	1	1260	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	368	Kinesin-motor.				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						ATGATTTGTTGAACTGGAAGA	0.463000													13	85					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	51							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687000													3	64					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45856009	45856009	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45856009G>A	ENST00000391945.4	-	20	1974	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	ERCC2_ENST00000391944.3_Missense_Mutation_p.L555F	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	633	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCTTGAGAATGCGGCTC	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				27	32					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021531	2021531	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2021531C>T	ENST00000262113.4	+	10	1212	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	357	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCTGCGCATCGTGTCTCGGG	0.627000													23	35					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942170	134942170	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134942170G>A	ENST00000607359.1	+	16	2995	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	GPR123_ENST00000392607.3_Missense_Mutation_p.G280S|GPR123_ENST00000392606.2_Missense_Mutation_p.G183S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	280						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGTGTCACAGGGCCACTTCCT	0.652000													18	8					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117130730	117130730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117130730G>A	ENST00000307564.4	-	5	1723	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.S521F|AKNA_ENST00000374075.5_Missense_Mutation_p.S440F|AKNA_ENST00000312033.3_Missense_Mutation_p.S521F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGAGGCCGCAGAGGCCTGGGG	0.667000													13	60					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31414965	31414965	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31414965G>A	ENST00000389202.2	+	7	752	c.704_splice	c.e7+1	p.V235_splice	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	235	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTGACAGTGGTGTAAGCAAC	0.627000													20	48					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641079	36641079	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641079G>A	ENST00000373448.2	-	3	1378	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.S380S|TTI1_ENST00000449821.1_Silent_p.S380S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	380							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATGTGGCAAGGGAATGCAGGC	0.463000													43	249					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61121414	61121414	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:61121414C>T	ENST00000317995.4	-	8	1067	c.803G>A	c.(802-804)gGg>gAg	p.G268E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	268					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCCCAAAATCCCATCACAGCC	0.428000													28	53					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544869	82544869	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544869G>T	ENST00000423517.2	-	7	12770	c.12433C>A	c.(12433-12435)Ctt>Att	p.L4145I	PCLO_ENST00000437081.1_Missense_Mutation_p.L865I|PCLO_ENST00000333891.8_Missense_Mutation_p.L4145I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4076					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						TAATGAGAAAGACCAGCAAGG	0.398000													26	128					1.13719e-10	1.16517e-10	1	1	0
EPG5	57724	broad.mit.edu	37	18	43460176	43460176	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43460176T>A	ENST00000282041.5	-	32	5565	c.5531A>T	c.(5530-5532)cAg>cTg	p.Q1844L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1844					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						GCTCAGAAGCTGCTCCGCGGA	0.587000											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2234518	2234518	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234518G>A	ENST00000378536.4	+	2	1143	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	357					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCTGGCTGCGGACCTTGGCCG	0.637000													16	45					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874566	4874566	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874566G>A	ENST00000399583.3	-	4	1275	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	RADIL_ENST00000538469.1_Missense_Mutation_p.P123L|RADIL_ENST00000536091.1_Missense_Mutation_p.P363L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	363	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCGGGCAGGGGCTGGGCCTG	0.751000													4	17					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90398396	90398396	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90398396G>A	ENST00000369393.3	-	66	11270	c.11155C>T	c.(11155-11157)Ccc>Tcc	p.P3719S	MDN1_ENST00000428876.1_Missense_Mutation_p.P3719S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3719					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)		GGAACATTGGGATGCTGGTAG	0.532000													17	19					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479726	27479726	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27479726G>A	ENST00000233535.4	-	6	1165	c.813C>T	c.(811-813)ttC>ttT	p.F271F	SLC30A3_ENST00000447008.2_Silent_p.F266F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	271					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGAAGAGGAAGGTGCTGA	0.572000													10	29					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7250425	7250425	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7250425G>A	ENST00000158762.3	+	14	1413	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	403					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGAGCCTGGGGGAGTCGGGCA	0.677000													20	16					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030960	49030960	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49030960G>A	ENST00000380950.2	-	27	4806	c.4619C>T	c.(4618-4620)cCa>cTa	p.P1540L	CEP152_ENST00000399334.3_Missense_Mutation_p.P1484L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1484					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTAGTGGATTGCATTT	0.418000													10	87					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176033	159176033	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:159176033C>T	ENST00000537147.1	+	3	1647	c.804C>T	c.(802-804)tcC>tcT	p.S268S	DARC_ENST00000368121.2_Silent_p.S270S|DARC_ENST00000368122.2_Silent_p.S268S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	268					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGTGAGGTCCAAGCTGTTGC	0.572000													26	110					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880348	37880348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37880348G>A	ENST00000436120.2	+	5	1504	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATACCGGAGAAAAGCCC	0.408000													9	55					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48252744	48252744	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252744G>A	ENST00000262018.3	+	9	1146	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000543315.1_Silent_p.R246R|SGCA_ENST00000344627.6_Silent_p.R246R|HILS1_ENST00000504307.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CAGGTGAGCGGCTGCCTCCCC	0.652000													5	22					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968599	99968599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968599C>T	ENST00000298999.3	+	5	1031	c.728C>T	c.(727-729)tCt>tTt	p.S243F	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S243F|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AGCTCTGATTCTGAAATTGTA	0.393000													36	12					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167812284	167812284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:167812284C>T	ENST00000265293.4	+	3	800	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	WWC1_ENST00000521089.1_Silent_p.L100L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	100					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAGGATTACCTGGTGGTGGC	0.552000													10	55					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057646	27057646	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057646C>T	ENST00000324856.7	+	3	1725	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S	ARID1A_ENST00000374152.2_Missense_Mutation_p.P69S|ARID1A_ENST00000457599.2_Missense_Mutation_p.P452S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACAGATTCCTCCTTATGG	0.468000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	124					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41547937	41547937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41547937C>T	ENST00000263253.7	+	15	4137	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	973					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGCAGCCTTCCCAGGAAGTG	0.483000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				27	121					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190122651	190122651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190122651C>T	ENST00000264734.2	+	3	776	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	176					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGAAATTCCTCCCTGATGAGC	0.502000													19	60					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228398379	228398379	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228398379C>T	ENST00000310078.7	+	7	1189	c.929C>T	c.(928-930)gCt>gTt	p.A310V	AGFG1_ENST00000409979.2_Missense_Mutation_p.A334V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A310V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A310V|AGFG1_ENST00000373671.3_Missense_Mutation_p.A270V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	310					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						ACAGCATCAGCTGTTAGTAAA	0.398000													31	51					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45435411	45435411	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45435411G>T	ENST00000321429.4	+	17	2253	c.1846G>T	c.(1846-1848)Gtt>Ttt	p.V616F	DUOX1_ENST00000389037.3_Missense_Mutation_p.V616F|DUOX1_ENST00000561166.1_Missense_Mutation_p.V262F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	616					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCTGGATTGTTGCCCGGCT	0.597000													4	33					1	1	1	1	0
STYK1	55359	broad.mit.edu	37	12	10774549	10774549	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10774549G>A	ENST00000075503.3	-	10	1510	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	330	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTAGGAGGGACTTCAGGAT	0.423000										HNSCC(73;0.22)			14	109					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272805	25272805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:25272805C>T	ENST00000218548.6	+	12	1873	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	ATP12A_ENST00000381946.3_Missense_Mutation_p.H508Y	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	508					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTCTCCATCCACGAGATGGA	0.512000													12	30					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196154	131196154	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131196154G>A	ENST00000541194.1	-	2	402	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PODXL_ENST00000537928.1_Missense_Mutation_p.P47S|PODXL_ENST00000378555.3_Missense_Mutation_p.P47S|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Missense_Mutation_p.P47S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	47	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCTGGAGTCGGTGCTGTTTTG	0.527000													27	109					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754053	237754053	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237754053G>A	ENST00000366574.2	+	31	4238	c.3921G>A	c.(3919-3921)ccG>ccA	p.P1307P	RYR2_ENST00000360064.6_Silent_p.P1305P|RYR2_ENST00000542537.1_Silent_p.P1291P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1307	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)			TGAGCATGCCGATCGAGTGCG	0.507000													42	143					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29938882	29938882	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:29938882A>C	ENST00000434693.2	+	9	1501	c.801A>C	c.(799-801)tcA>tcC	p.S267S	RBMS3_ENST00000383766.2_Silent_p.S267S|RBMS3_ENST00000456853.1_Silent_p.S281S|RBMS3_ENST00000383767.2_Silent_p.S268S|RBMS3_ENST00000452462.1_Silent_p.S268S|RBMS3_ENST00000273139.9_Silent_p.S268S|RBMS3_ENST00000396583.3_Silent_p.S281S	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	268						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)				TTTATTCTTCACCGTACAGTA	0.433000													31	93					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75702498	75702498	+	Silent	SNP	G	G	A	rs139503359		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75702498G>A	ENST00000394947.3	-	7	1452	c.1138C>T	c.(1138-1140)Cta>Tta	p.L380L	SIN3A_ENST00000394949.4_Silent_p.L380L|SIN3A_ENST00000360439.4_Silent_p.L380L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	380	Interaction with REST (By similarity).|PAH 2.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCATCTGGTAGGAATTGTCCA	0.403000													20	109					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206292	160206292	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:160206292G>A	ENST00000392783.2	-	28	5285	c.4790C>T	c.(4789-4791)cCt>cTt	p.P1597L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1563L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1497L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1561L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCTGGGGTAGGTGAAGGTGA	0.458000													9	41					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520412	40520412	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520412C>T	ENST00000347077.4	+	7	1451	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.P386L	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTGAAAAACCCTACGAATGT	0.383000													19	27					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966431	2966431	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:2966431G>A	ENST00000575751.1	-	1	470	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						AGGTGAGGAGGAGGCCATAGA	0.582000													3	25					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960306	117960306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:117960306G>A	ENST00000310164.2	+	4	1606	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAGTGACAAGGCCCAGGTTTT	0.498000													17	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766126	77766126	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77766126G>A	ENST00000521891.2	+	10	7417	c.6969G>A	c.(6967-6969)agG>agA	p.R2323R	ZFHX4_ENST00000518282.1_Silent_p.R2297R|ZFHX4_ENST00000455469.2_Silent_p.R2278R|ZFHX4_ENST00000050961.6_Silent_p.R2278R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278						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)			TTTTCCCCAGGATCTTTGACT	0.398000										HNSCC(33;0.089)			29	72					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952789	33952789	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:33952789G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GCCAAAACAAGGGGAAGCGGG	0.587000													4	40					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113852537	113852537	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113852537G>A	ENST00000375457.2	-	3	758	c.162C>T	c.(160-162)ccC>ccT	p.P54P	PCID2_ENST00000375479.2_Silent_p.P56P|PCID2_ENST00000351317.3_Silent_p.P56P|PCID2_ENST00000337344.4_Silent_p.P56P|PCID2_ENST00000375477.1_Silent_p.P56P|PCID2_ENST00000375459.1_Silent_p.P54P|PCID2_ENST00000246505.5_Silent_p.P56P	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	56					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCATAAGGGGGTTCCAAGA	0.368000													22	144					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46761092	46761092	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:46761092G>A	ENST00000256689.5	-	5	790	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	116					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGAATACAGGGAAAATATT	0.333000													26	182					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426723	137426723	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137426723C>T	ENST00000506684.1	+	5	1307	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	WNT8A_ENST00000398754.1_Silent_p.S339S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	339					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGCACGCTCCCCAGGCAGTG	0.517000													10	45					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802719	185802719	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:185802719G>A	ENST00000302277.6	+	4	3190	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866						intracellular	zinc ion binding	p.E866*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCAAAAATCGAAAGGAACTC	0.353000													19	40					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526482	97526482	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97526482C>T	ENST00000305476.5	-	15	2515	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	795					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCCTCCCCTCCTAGTTGTAAG	0.642000													21	111					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	376767	376767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:376767C>T	ENST00000316418.5	+	4	343	c.299C>T	c.(298-300)cCc>cTc	p.P100L	AHRR_ENST00000505113.1_Missense_Mutation_p.P100L|AHRR_ENST00000512529.1_Intron	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGGCGCCCCCTCGCCCGGA	0.627000													6	19					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953190	25953190	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953190G>A	ENST00000356865.6	-	12	2619	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTTTTCCAGGGAGGATTCGG	0.522000													20	47					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167554	8167554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:8167554G>A	ENST00000402384.3	-	13	1545	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	ICA1_ENST00000422063.2_Missense_Mutation_p.P456S|ICA1_ENST00000265577.7_Missense_Mutation_p.P426S|ICA1_ENST00000396675.3_Missense_Mutation_p.P427S|ICA1_ENST00000406470.2_Missense_Mutation_p.P427S|ICA1_ENST00000401396.1_Missense_Mutation_p.P415S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	427					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGCTGCGAAGGAAGGAAACCT	0.517000													39	214					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368447	45368447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45368447G>A	ENST00000560629.1	+	9	1218	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	ITGB3_ENST00000559488.1_Missense_Mutation_p.G418E|ITGB3_ENST00000571680.1_Missense_Mutation_p.G418E|ITGB3_ENST00000435993.2_Missense_Mutation_p.G371E			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542000													19	60					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	46					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837304	82837304	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:82837304C>T	ENST00000265077.3	+	8	9047	c.8482C>T	c.(8482-8484)Ccc>Tcc	p.P2828S	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1841S|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCATCATCTCCCCTCACTAT	0.502000													9	66					0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134364547	134364547	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134364547G>A	ENST00000265340.7	-	3	1283	c.867C>T	c.(865-867)tcC>tcT	p.S289S	PITX1_ENST00000506438.1_Silent_p.S289S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	289						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGTGCTGTTTGGACTTGAGCC	0.701000													7	24					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169333	8169333	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8169333A>C	ENST00000314666.6	+	21	2832	c.2699A>C	c.(2698-2700)aAa>aCa	p.K900T	PFAS_ENST00000545834.1_Missense_Mutation_p.K476T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	900					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGCTGCTGAAAGGTGAGTGA	0.612000													5	30					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880386	42880386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:42880386G>A	ENST00000431473.3	+	5	1046	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	306					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						CTGCCAAATAGGCAGACTGGA	0.532000													24	59					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158538839	158538839	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158538839T>C	ENST00000367102.2	-	13	1464	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	SERAC1_ENST00000367101.1_Silent_p.K441K|SERAC1_ENST00000367104.3_Silent_p.K441K			Q96JX3	SRAC1_HUMAN	serine active site containing 1	441					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CAGGACAGTCTTTTGCTAACC	0.403000													20	80					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475272	120475272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120475272G>A	ENST00000355622.6	+	3	967	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TLR4_ENST00000394487.4_Missense_Mutation_p.R249Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	289					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAAGAATTCCGATTAGCATAC	0.363000													24	115					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267879	129267879	+	Silent	SNP	G	G	A	rs145471008		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129267879G>A	ENST00000324382.2	+	3	419	c.414G>A	c.(412-414)agG>agA	p.R138R	H1FOO_ENST00000503977.1_5'UTR	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	138					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	p.R138R(1)		endometrium(1)|lung(4)|skin(1)	6						TCCAGCCCAGGAAGATGGCCC	0.647000													3	19					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547672	62547672	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62547672G>T	ENST00000430451.2	+	4	1311	c.1114G>T	c.(1114-1116)Gtg>Ttg	p.V372L	SYT16_ENST00000446982.2_3'UTR|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	372	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGTGACCATTGTGAGGGCACA	0.547000													7	12					0.248553	0.249289	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45292235	45292235	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:45292235G>C	ENST00000447098.2	-	18	2912	c.2901C>G	c.(2899-2901)gcC>gcG	p.A967A	PTCH2_ENST00000372192.3_Silent_p.A967A	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	967					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGATGCAGACGGCCAGCAGGA	0.657000									Basal Cell Nevus syndrome				9	22					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40754970	40754970	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40754970C>T	ENST00000216194.7	+	5	641	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ADSL_ENST00000454266.2_Silent_p.F209F|ADSL_ENST00000342312.6_Silent_p.F195F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	195					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACCTGCGCTTCCGGGGAGTAA	0.517000													20	58					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21208925	21208925	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208925C>T	ENST00000574002.1	-	20	2596	c.2114G>A	c.(2113-2115)gGg>gAg	p.G705E	ZP2_ENST00000219593.4_Missense_Mutation_p.G705E|ZP2_ENST00000574091.1_Missense_Mutation_p.G696E|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	705					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCTTGTGCCCTTTGGTGTC	0.478000													10	72					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129634086	129634086	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129634086C>T	ENST00000421865.2	+	23	3304	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1085	Laminin EGF-like 12.				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)		ATCCAAAATTCTCTGGTGCAA	0.473000													5	36					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480501	32480501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:32480501G>A	ENST00000266088.4	+	8	990	c.740G>A	c.(739-741)gGc>gAc	p.G247D	SLC5A1_ENST00000543737.1_Missense_Mutation_p.G120D	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	247					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGTCTGATGGCAACACCACC	0.502000													16	34					0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40097949	40097949	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40097949C>A	ENST00000221797.4	+	4	435	c.390C>A	c.(388-390)atC>atA	p.I130I		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	130	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.I130I(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGAGAGATATCTCCCTGACCT	0.468000													32	50					8.16721e-17	8.46102e-17	1	1	0
MARK1	4139	broad.mit.edu	37	1	220791840	220791840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:220791840C>T	ENST00000402574.1	+	8	1338	c.336C>T	c.(334-336)ctC>ctT	p.L112L	MARK1_ENST00000366918.4_Silent_p.L225L|MARK1_ENST00000366917.4_Silent_p.L247L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	247	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L247L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428000													14	65					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004455	94004455	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94004455G>A	ENST00000553484.1	+	12	1397	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	UNC79_ENST00000555664.1_Missense_Mutation_p.E415K|UNC79_ENST00000256339.4_Missense_Mutation_p.E238K|UNC79_ENST00000393151.2_Missense_Mutation_p.E415K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	415						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						TCACAGTAATGAAGTGGGGGC	0.592000													18	49					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458859	248458859	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248458859G>A	ENST00000317996.1	-	1	21	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	8					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)			ATAAAATCTGGGGTAGTATTT	0.438000													23	89					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970961	106970961	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:106970961C>T	ENST00000369701.3	+	17	2555	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	SORCS3_ENST00000369699.4_Silent_p.S62S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	776						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCCAGCATCCCCATCAAAGG	0.453000													9	35					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187186	140187186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140187186G>A	ENST00000530339.1	+	1	414	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.K138K|PCDHA4_ENST00000512229.2_Silent_p.K138K	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)			CAACACAAAAGAACCTGTCCA	0.572000													36	81					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33321400	33321400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33321400G>A	ENST00000378526.4	+	9	1694	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	LIG3_ENST00000262327.5_Missense_Mutation_p.D521N	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	521					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TAAGAATGGAGACCACTTCAG	0.517000								Other BER factors					17	74					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428967	48428967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48428967C>T	ENST00000224605.2	-	2	1184	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	307					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTCTCATCCAGCCCCGGC	0.746000													3	13					0	0	1	0	0
B9D1	27077	broad.mit.edu	37	17	19247153	19247153	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19247153C>T	ENST00000477478.2	-	6	682	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	B9D1_ENST00000261499.4_Missense_Mutation_p.R141Q|B9D1_ENST00000395615.1_Missense_Mutation_p.R141Q|B9D1_ENST00000575403.1_Missense_Mutation_p.G117S|B9D1_ENST00000461069.2_Missense_Mutation_p.R141Q|B9D1_ENST00000395616.3_Missense_Mutation_p.R141Q			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTACTCGGGCCGCCGCCCCAT	0.622000													15	21					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5805208	5805208	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5805208C>T	ENST00000339450.5	-	10	1822	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.G156E|ERMP1_ENST00000381506.3_Intron	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	578					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATAAATTTTCCTTGGGCACC	0.383000													4	13					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885337	29885337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29885337G>A	ENST00000310624.6	+	4	1741	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	570	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGAGAAGGAGGAAGCAAA	0.567000													8	66					0	0	1	0	0
IGLV3-32	28787	broad.mit.edu	37	22	22937306	22937306	+	RNA	SNP	G	G	A	rs144330202	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:22937306G>A	ENST00000390303.2	+	0	163																											CACCTGCCAGGGAGACAGCAT	0.577000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798251	55798251	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55798251T>C	ENST00000313555.1	+	1	357	c.357T>C	c.(355-357)gcT>gcC	p.A119A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGCAATGGCTTATGACCGCT	0.463000													26	36					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858334	38858334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38858334G>A	ENST00000409235.3	+	25	2963	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V910M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	950					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTCTGCTGGTGGTGGGTGG	0.607000													68	251					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237540664	237540664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237540664C>T	ENST00000366574.2	+	8	822	c.505C>T	c.(505-507)Cga>Tga	p.R169*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R167*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R153*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	169					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)			CTCTAAGCAGCGATCAGAAGG	0.418000													4	35					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294269	141294269	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141294269G>A	ENST00000389484.3	-	46	8494	c.7523C>T	c.(7522-7524)tCc>tTc	p.S2508F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2508					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)		GTTGCAGGAGGAATTTTTAGC	0.328000										TSP Lung(27;0.18)			15	15					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729974	140729974	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140729974C>A	ENST00000523390.1	+	1	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGCCAAGGATCTGG	0.542000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0.00909568	0.00916679	1	1	0
SLFN11	91607	broad.mit.edu	37	17	33679468	33679468	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33679468C>T	ENST00000394566.1	-	7	2885	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	SLFN11_ENST00000308377.4_Silent_p.R871R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	871						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTCAGCTGTCCTTGGATGGA	0.483000													38	169					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224269	13224269	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13224269C>T	ENST00000197268.8	+	10	1583	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	488						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCAGTTACTTCAGACCAGAAG	0.517000													62	54					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132029995	132029995	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:132029995G>A	ENST00000314099.8	-	1	2211	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522000													44	142					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957743	61957743	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61957743T>G	ENST00000423893.2	-	5	653	c.592A>C	c.(592-594)Aag>Cag	p.K198Q	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Silent_p.T196T|GH2_ENST00000449787.2_Missense_Mutation_p.K183Q			P01242	SOM2_HUMAN	growth hormone 2	198						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTCTCGACCTTGTCCATGTCC	0.572000													29	57					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5220306	5220306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:5220306G>A	ENST00000372412.4	-	21	3750	c.3517C>T	c.(3517-3519)Ccg>Tcg	p.P1173S	PTPRS_ENST00000348075.2_Missense_Mutation_p.P1150S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1150S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1172S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.P741S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P741S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1172S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1168S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1172					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTACCCAGCGGGGTCAGGAAT	0.587000													5	21					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759406	94759406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759406C>T	ENST00000450979.2	+	1	985	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	229	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGAGCTCTTCCCAGACATTTC	0.552000													12	42					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39140175	39140175	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39140175C>T	ENST00000377755.4	-	1	385	c.351G>A	c.(349-351)ctG>ctA	p.L117L	KRT40_ENST00000398486.2_Silent_p.L117L			Q6A162	K1C40_HUMAN	keratin 40	117	Coil 1A.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCCTGGATTCCAGCTCTGCGT	0.493000													49	159					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418486	74418486	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:74418486A>C	ENST00000263665.6	-	7	827	c.800T>G	c.(799-801)cTg>cGg	p.L267R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	267	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAAAATGGCAGCCCATCACT	0.403000													19	38					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420677	11420677	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420677C>T	ENST00000381842.3	-	0	543				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.647000													41	266					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718483	73718483	+	Missense_Mutation	SNP	C	C	T	rs45493191		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73718483C>T	ENST00000264448.6	+	10	9505	c.9394C>T	c.(9394-9396)Cca>Tca	p.P3132S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3090S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3132					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCTTCTCTTCCAGACAGTAA	0.393000													20	104					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639322	38639322	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38639322G>T	ENST00000413689.1	-	14	2353	c.2160C>A	c.(2158-2160)gaC>gaA	p.D720E	SCN5A_ENST00000451551.2_Missense_Mutation_p.D720E|SCN5A_ENST00000450102.2_Missense_Mutation_p.D720E|SCN5A_ENST00000449557.2_Missense_Mutation_p.D720E|SCN5A_ENST00000443581.1_Missense_Mutation_p.D720E|SCN5A_ENST00000425664.1_Missense_Mutation_p.D720E|SCN5A_ENST00000414099.2_Missense_Mutation_p.D720E|SCN5A_ENST00000333535.4_Missense_Mutation_p.D720E|SCN5A_ENST00000423572.2_Missense_Mutation_p.D720E|SCN5A_ENST00000455624.2_Missense_Mutation_p.D720E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	720					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGATGGTGAGGTCAGTAAACG	0.547000													6	54					0.00116845	0.00117846	1	1	0
USH2A	7399	broad.mit.edu	37	1	215808040	215808040	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:215808040C>T	ENST00000366943.2	-	70	15444	c.15058G>A	c.(15058-15060)Gtc>Atc	p.V5020I	USH2A_ENST00000307340.3_Missense_Mutation_p.V5020I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5020					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)		GTTGTTAGGACCAAGCCTGCA	0.443000										HNSCC(13;0.011)			10	73					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175962174	175962174	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:175962174G>A	ENST00000264110.2	-	11	1274	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	ATF2_ENST00000409635.1_Missense_Mutation_p.P268S|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.P308S|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.P268S|ATF2_ENST00000409437.1_Missense_Mutation_p.P210S|ATF2_ENST00000392544.1_Missense_Mutation_p.P326S|ATF2_ENST00000538946.1_Missense_Mutation_p.P308S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	326					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACACATACCGGAGTTTCTGTA	0.403000													17	84					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802615	54802615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54802615C>T	ENST00000391745.1	-	9	1193	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	LILRA3_ENST00000251390.3_Missense_Mutation_p.G276R|LILRA3_ENST00000391744.3_Missense_Mutation_p.G212R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGAGAGCCCAGCCTGGGGC	0.642000													15	100					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037517	47037517	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47037517C>T	ENST00000450053.3	+	15	2306	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.P709P	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	709							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGACAGCACCCCTTCGCTGCC	0.607000													4	11					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12257762	12257762	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:12257762G>A	ENST00000256194.4	+	16	2322	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	MICAL2_ENST00000527546.1_Silent_p.R678R|MICAL2_ENST00000342902.5_Silent_p.R678R|MICAL2_ENST00000379612.3_Silent_p.R678R|MICAL2_ENST00000537344.1_Silent_p.R678R	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	678						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGAACAAACGGAGACGGAAGG	0.552000											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299443	113299443	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113299443T>C	ENST00000297405.5	-	58	9425	c.9181A>G	c.(9181-9183)Act>Gct	p.T3061A	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2991A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2892A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3021A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3061	Sushi 22.					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						TGGCCGGGAGTACCTGGATCG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	90					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719151	13719151	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13719151C>T	ENST00000265104.4	-	72	12443	c.12339G>A	c.(12337-12339)atG>atA	p.M4113I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4113	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTATGTCCATCAGCTCAT	0.453000									Kartagener syndrome				15	55					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41605896	41605896	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41605896G>A	ENST00000319349.5	-	13	1744	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y	ETV4_ENST00000586826.1_Silent_p.Y205Y|ETV4_ENST00000545954.1_Silent_p.Y443Y|ETV4_ENST00000545089.1_Silent_p.Y428Y|ETV4_ENST00000538265.1_Silent_p.Y443Y|ETV4_ENST00000393664.2_Silent_p.Y482Y|ETV4_ENST00000591713.1_Silent_p.Y482Y	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	482					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTAGTAAGAGTAGCCACCCT	0.602000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								8	24					0	0	1	0	0
S100A1	6271	broad.mit.edu	37	1	153604235	153604235	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153604235G>A	ENST00000368698.3	+	4	509	c.362G>A	c.(361-363)gGg>gAg	p.G121E	S100A1_ENST00000469893.1_3'UTR|S100A1_ENST00000368696.3_3'UTR|S100A1_ENST00000292169.1_Missense_Mutation_p.G68E|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.4_ENST00000607839.1_RNA|S100A13_ENST00000368699.1_Intron			P23297	S10A1_HUMAN	S100 calcium binding protein A1	68					intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AATGGAGACGGGGAGGTGGAC	0.542000													49	232					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446682	11446682	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446682C>T	ENST00000423059.3	-	21	4168	c.3916_splice	c.e21-1	p.G1306_splice	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1306	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATCATTTTTCCTTGAAGAGA	0.458000										HNSCC(18;0.044)			5	46					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641942	36641942	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641942G>A	ENST00000373448.2	-	3	515	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.L93F|TTI1_ENST00000449821.1_Missense_Mutation_p.L93F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	93							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGTTCCTGGAGAAGCTCCTGT	0.493000													50	125					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622557	156622557	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622557G>A	ENST00000329117.4	+	8	2151	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.R605R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	605					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTACCAGGGAGCTGGAGG	0.652000													3	27					0	0	1	0	0
AUH	549	broad.mit.edu	37	9	94087606	94087606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:94087606C>T	ENST00000375731.4	-	4	522	c.499G>A	c.(499-501)Gat>Aat	p.D167N	AUH_ENST00000422391.2_Missense_Mutation_p.D167N|AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Intron	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	167					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACCAATATCGTTAATCACT	0.343000													28	103					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843658	24843658	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843658G>A	ENST00000259698.4	-	14	1527	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	FAM65B_ENST00000510784.2_Missense_Mutation_p.P435L|FAM65B_ENST00000540914.1_Missense_Mutation_p.P401L|FAM65B_ENST00000378023.4_Missense_Mutation_p.P401L|FAM65B_ENST00000538035.1_Missense_Mutation_p.P430L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	451					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAGTTGGAAGGGGAGCCTGT	0.552000													10	53					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643015	1643015	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643015G>A	ENST00000399682.1	-	1	353	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	103	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.682000													7	171					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158223460	158223460	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:158223460T>C	ENST00000313708.6	-	9	1084	c.802A>G	c.(802-804)Agc>Ggc	p.S268G	EBF1_ENST00000380654.4_Missense_Mutation_p.S237G|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.S260G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	268	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACTCGGGCTGATGGCTTTG	0.448000			T	HMGA2	lipoma								8	33					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433433	55433433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55433433C>T	ENST00000314259.3	+	1	820	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCACTCACCCCATAGACAAG	0.488000													34	77					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120373073	120373073	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120373073G>T	ENST00000331113.4	+	2	2197	c.1232G>T	c.(1231-1233)cGc>cTc	p.R411L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	411					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AACTTCAGTCGCATCTACCAC	0.458000													21	56					9.62636e-23	1.00148e-22	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85515605	85515605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85515605C>T	ENST00000393217.2	+	16	3569	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1170										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTGTCAGTCTCAGATTCGAGA	0.353000													14	52					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118621	68118621	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:68118621G>A	ENST00000380035.2	+	2	513	c.455G>A	c.(454-456)gGc>gAc	p.G152D	SKOR1_ENST00000554054.1_Missense_Mutation_p.G124D|SKOR1_ENST00000389002.1_Missense_Mutation_p.G143D|SKOR1_ENST00000341418.5_Missense_Mutation_p.G338D|SKOR1_ENST00000554240.1_Missense_Mutation_p.G113D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	152					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCGCTGCGGCATGATCACT	0.662000													20	54					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:207640107G>A	ENST00000367057.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367058.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G99*(1)		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						AGTACCAGGAGGATACAAAAT	0.408000													27	35					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46191013	46191013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46191013C>T	ENST00000371374.1	-	5	788	c.597G>A	c.(595-597)ggG>ggA	p.G199G	RCAN2_ENST00000405162.1_Silent_p.G199G|RCAN2_ENST00000306764.7_Silent_p.G199G|RCAN2_ENST00000330430.6_Silent_p.G153G	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	153					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGGACTCAGTCCCTGCATGGA	0.498000													27	104					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123900446G>A	ENST00000431524.1	+	1	150	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562000													49	111					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656044	25656044	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25656044G>A	ENST00000376436.1	-	4	2419	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.P595L|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.P627L					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCATACAAAAGGCTGCTTGCC	0.498000													34	117					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780752	88780752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88780752C>T	ENST00000418177.2	-	2	656	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GRM5_ENST00000305447.4_Missense_Mutation_p.D97N|GRM5_ENST00000393294.3_Missense_Mutation_p.D97N|GRM5_ENST00000305432.5_Missense_Mutation_p.D97N|GRM5_ENST00000393297.1_Missense_Mutation_p.D97N|GRM5_ENST00000455756.2_Missense_Mutation_p.D97N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	97					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)	CAGCAGGAGTCCCTTATCTCA	0.512000													9	26					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289088	98289088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289088G>A	ENST00000322128.3	-	1	1088	c.985C>T	c.(985-987)Cag>Tag	p.Q329*		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	329					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGGAGCCACTGGATTGGAGTA	0.498000													14	78					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115280598	115280598	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115280598G>C	ENST00000438362.2	-	4	811	c.433C>G	c.(433-435)Cga>Gga	p.R145G	CSDE1_ENST00000530886.1_5'UTR|CSDE1_ENST00000369530.1_Missense_Mutation_p.R145G|CSDE1_ENST00000339438.6_Missense_Mutation_p.R99G|CSDE1_ENST00000358528.4_Missense_Mutation_p.R99G|CSDE1_ENST00000534699.1_Missense_Mutation_p.R99G|CSDE1_ENST00000261443.5_Missense_Mutation_p.R99G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	99	CSD 2; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTCATTCGTTCTTCAGGG	0.398000													11	54					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G434G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602000													13	20					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691452	3691452	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3691452G>A	ENST00000403096.3	+	6	973	c.482G>A	c.(481-483)gGc>gAc	p.G161D	COLEC11_ENST00000418971.2_Missense_Mutation_p.G201D|COLEC11_ENST00000402922.1_Missense_Mutation_p.G137D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Missense_Mutation_p.G187D|COLEC11_ENST00000236693.7_Missense_Mutation_p.G184D|COLEC11_ENST00000404205.1_Missense_Mutation_p.G113D|COLEC11_ENST00000382062.2_Missense_Mutation_p.G163D|COLEC11_ENST00000402794.1_Missense_Mutation_p.G137D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	187	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTGCCAATGGCCTGATGGCC	0.662000													4	32					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3118956	3118956	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3118956C>T	ENST00000304094.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AATTCATCCTCCTGGGAGTTA	0.418000													17	67					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150774982	150774982	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150774982G>A	ENST00000297532.6	-	5	1100	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000482571.1_Silent_p.F314F|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Silent_p.F200F	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	341					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGTAGTTGATGAAGCCAGGGG	0.622000													8	55					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74529566	74529566	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:74529566T>A	ENST00000355780.5	-	6	653	c.435A>T	c.(433-435)caA>caT	p.Q145H	STAU2_ENST00000521727.1_Missense_Mutation_p.Q157H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q145H|STAU2_ENST00000521451.1_De_novo_Start_InFrame|STAU2_ENST00000523558.1_Missense_Mutation_p.Q5H|STAU2_ENST00000519961.1_Missense_Mutation_p.Q177H|STAU2_ENST00000524300.1_Missense_Mutation_p.Q177H|STAU2_ENST00000522509.1_Missense_Mutation_p.Q145H|STAU2_ENST00000521210.1_Missense_Mutation_p.Q73H|STAU2_ENST00000517542.1_Missense_Mutation_p.Q139H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	177	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCTGCAGTGCTTGGAGGGCTT	0.433000													24	46					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36181743	36181743	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36181743C>T	ENST00000357641.6	+	8	2822	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.P857S|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	857					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGGAGCCCCCTACTCTGAA	0.512000													24	77					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32705047	32705047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:32705047C>T	ENST00000531481.1	-	7	740	c.464G>A	c.(463-465)tGg>tAg	p.W155*	CCDC73_ENST00000534415.1_Intron|CCDC73_ENST00000335185.5_Intron			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	0										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTACTAATCCAGATGGGGGA	0.308000													4	39					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77889183	77889183	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77889183G>A	ENST00000380835.2	-	1	216	c.50C>T	c.(49-51)cCa>cTa	p.P17L	NOXRED1_ENST00000298358.3_Missense_Mutation_p.P17L	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	17					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ATCTTCCTCTGGAACCCCATA	0.478000													39	206					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570606	47570606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47570606G>A	ENST00000253048.5	-	15	2956	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	973							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGTGCGGGCGAAGCTGGGCT	0.677000													29	122					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632538	91632538	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91632538A>T	ENST00000359028.2	+	9	3568	c.3343A>T	c.(3343-3345)Aaa>Taa	p.K1115*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1103*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1115*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1115					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATGTACTTAAATCAGAACA	0.318000			T	BRAF	papillary thyroid								26	59					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642907	91642907	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642907G>A	ENST00000373094.1	+	5	4163	c.3318G>A	c.(3316-3318)ggG>ggA	p.G1106G	PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Silent_p.G1096G|PCDH11X_ENST00000406881.1_Silent_p.G1106G|PCDH11X_ENST00000298274.8_Silent_p.G1069G|PCDH11X_ENST00000373088.1_Silent_p.G1069G|PCDH11X_ENST00000373097.1_Silent_p.G1096G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1106					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						GCACTGAAGGGGATGGCAACT	0.488000													33	10					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101873414	101873414	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873414C>T	ENST00000551346.1	+	4	311	c.152C>T	c.(151-153)tCc>tTc	p.S51F	SPIC_ENST00000299272.5_Missense_Mutation_p.S51F			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAGGAAATTCCAGCTGCTAT	0.358000													9	56					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33109732	33109732	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109732G>A	ENST00000307363.5	-	4	591	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GLB1_ENST00000399402.3_Silent_p.S119S|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Silent_p.S197S	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	149			S -> F (in MPS4B; 2.0% of wild-type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTGGGTCGGAGGAGCGGAGAA	0.488000													14	52					0	0	1	0	0
NUDT18	79873	broad.mit.edu	37	8	21965715	21965715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21965715G>A	ENST00000309188.6	-	4	423	c.305C>T	c.(304-306)cCc>cTc	p.P102L	NUDT18_ENST00000522405.1_Missense_Mutation_p.P25L|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	102	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CAGTGTCTCGGGCTCACAGTG	0.682000													3	16					0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131544	151131544	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131544G>A	ENST00000368910.3	+	2	497	c.371G>A	c.(370-372)cGg>cAg	p.R124Q		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	124					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCGAGTGCCGGGATGTGCTG	0.602000													11	38					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504217	56504217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56504217G>T	ENST00000303305.6	+	8	1083	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	PA2G4_ENST00000552766.1_Nonsense_Mutation_p.E222*|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	222					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGAGGTACATGAAGTATATGC	0.438000													15	75					8.60227e-14	8.8575e-14	1	1	0
BCL2	596	broad.mit.edu	37	18	60795881	60795881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:60795881C>T	ENST00000398117.1	-	2	2158	c.697G>A	c.(697-699)Ggt>Agt	p.G233S	BCL2_ENST00000333681.4_Missense_Mutation_p.G233S|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	233					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	AGATAGGCACCCAGGGTGATG	0.502000			T	IGH@	"""NHL, CLL"""								10	33					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132250839	132250839	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:132250839C>T	ENST00000261674.4	+	13	2269	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P710S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	710					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGAGGAGAGTCCTTTCAGTGT	0.488000													31	182					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34477639	34477639	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:34477639C>T	ENST00000241052.4	+	7	882	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	265					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CATCCGGGATCTTTTTAACGC	0.433000													22	97					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70190226	70190226	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70190226G>A	ENST00000399180.2	-	14	2432	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Silent_p.S725S			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	725					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAAGAGCTAAGGATTTAATGG	0.358000													7	16					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62479090	62479090	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62479090G>A	ENST00000539111.2	-	6	1204	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	379					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTTAATAGGGGCTAAACAAG	0.373000													9	62					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30066080	30066080	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30066080A>T	ENST00000222803.5	-	1	220	c.45T>A	c.(43-45)acT>acA	p.T15T		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	15					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CAATCAAAGAAGTGACGAACA	0.473000													32	62					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7718105	7718105	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718105C>T	ENST00000454689.1	-	0	1047				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGCATTTCCTCTGGTACC	0.473000													11	43					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324456	27324456	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27324456T>A	ENST00000376087.4	-	24	3088	c.2923A>T	c.(2923-2925)Aat>Tat	p.N975Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N991Y|ANKRD26_ENST00000376070.3_Missense_Mutation_p.N532Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	974						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AGCCGTCCATTATACTGGGAT	0.353000													34	62					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20113935	20113935	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:20113935T>C	ENST00000263754.4	+	2	869	c.414T>C	c.(412-414)agT>agC	p.S138S	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	138					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGTCGGAGTTGTAGCCATG	0.458000													21	85					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31574596	31574596	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31574596G>A	ENST00000399332.1	-	40	7880	c.7392C>T	c.(7390-7392)gcC>gcT	p.A2464A	HECTD1_ENST00000553700.1_Silent_p.A2464A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2464	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACCTCTAAAGGCTTCCATTT	0.363000													69	146					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116224447	116224447	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:116224447G>A	ENST00000374140.2	+	4	590	c.381G>A	c.(379-381)agG>agA	p.R127R	RGS3_ENST00000350696.5_Silent_p.R127R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	127					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCAGCCAGGAAGAGGATCA	0.537000													9	74					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245594	202245594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245594C>T	ENST00000367278.3	+	5	678	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R145C|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCTCAACCGCATCAGCCA	0.637000													5	21					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8376135	8376135	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376135G>A	ENST00000332175.8	+	23	4261	c.3224G>A	c.(3223-3225)gGa>gAa	p.G1075E	PTPRM_ENST00000444013.1_Missense_Mutation_p.G862E|PTPRM_ENST00000580170.1_Missense_Mutation_p.G1088E|PTPRM_ENST00000400053.4_Missense_Mutation_p.G1013E|PTPRM_ENST00000400060.4_Missense_Mutation_p.G1089E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTGCTGGGATTCGTGCGG	0.592000													9	56					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236562	155236562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236562G>A	ENST00000368361.4	-	7	1111	c.796C>T	c.(796-798)Caa>Taa	p.Q266*	CLK2_ENST00000355560.4_Nonsense_Mutation_p.Q264*|CLK2_ENST00000361168.5_Nonsense_Mutation_p.Q265*|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Nonsense_Mutation_p.Q266*			P49760	CLK2_HUMAN	CDC-like kinase 2	266	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCGCACTTGGTGGATGGGG	0.557000								Other conserved DNA damage response genes					16	22					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4037787	4037787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4037787G>A	ENST00000262971.2	+	11	1562	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	483	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaggaagaggagga	0.701000													5	10					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078117	46078117	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46078117G>A	ENST00000397907.1	+	1	269	c.221G>A	c.(220-222)gGg>gAg	p.G74E	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	74	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAATCTTCGGGGTGCTGCCAG	0.642000													28	59					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4155015	4155015	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4155015C>T	ENST00000078445.2	+	2	294	c.147C>T	c.(145-147)gtC>gtT	p.V49V	CREB3L3_ENST00000602147.1_Silent_p.V49V|CREB3L3_ENST00000252587.3_Silent_p.V40V|CREB3L3_ENST00000602257.1_Silent_p.V49V|CREB3L3_ENST00000595923.1_Silent_p.V49V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	49					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCACGTCAAGGACCAGG	0.652000													15	65					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30818340	30818340	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30818340C>T	ENST00000312932.9	+	12	1416	c.1156C>T	c.(1156-1158)Cca>Tca	p.P386S	SEC14L2_ENST00000402592.3_Missense_Mutation_p.P303S|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P312S|RP4-539M6.19_ENST00000439838.1_Intron	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	386					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGTCCTGCTTCCAGACAAAGC	0.527000													19	65					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475388	62475388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:62475388G>A	ENST00000541428.1	-	18	1425	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	ASPH_ENST00000379454.4_Missense_Mutation_p.P451L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	451					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGTATCATTGGGAAATAGTTG	0.353000													26	111					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157405953	157405953	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:157405953C>T	ENST00000346085.5	+	6	2196	c.2195C>T	c.(2194-2196)cCg>cTg	p.P732L	ARID1B_ENST00000350026.5_Missense_Mutation_p.P719L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P719L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P661L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCA	0.597000													9	77					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57254631	57254631	+	Silent	SNP	G	G	A	rs142620907	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57254631G>A	ENST00000278426.3	-	14	1825	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	SLC43A1_ENST00000528450.1_Silent_p.F490F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGCAAGGCGAACACAGCAC	0.612000													8	31					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323366	2323366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:2323366G>A	ENST00000263092.5	-	10	1714	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Silent_p.A311A	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	529							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCTCCACTAAGGCATCGTCCA	0.502000													9	52					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85486956	85486956	+	Missense_Mutation	SNP	G	G	A	rs139077973		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:85486956G>A	ENST00000370589.2	-	12	1376	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R386C	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	442						integral to membrane	ion channel activity	p.R442C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTCAGAGAACGAAACTGGAAA	0.368000													15	49					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551233	25551233	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551233C>T	ENST00000329474.6	+	27	2792	c.2424C>T	c.(2422-2424)acC>acT	p.T808T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGCCAGCACCGAAAAGATTT	0.393000													56	87					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568428	33568428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33568428C>T	ENST00000262873.7	+	6	608	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	130	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACAAATGGCTCCCAGTCTATA	0.512000													27	242					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825952	111825952	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111825952C>T	ENST00000369743.4	+	0	1317					NR_003928.1																						CTCCATGGCTCCTGGGAGGGC	0.527000													13	27					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481075	27481075	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27481075G>A	ENST00000233535.4	-	3	730	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC30A3_ENST00000447008.2_Silent_p.S121S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	126					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGACGGGTGGAGAGCCAGA	0.637000													23	53					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740157	39740157	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740157C>T	ENST00000167586.6	-	4	868	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	261	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CACCTGGCCTCTCAGGGCATT	0.572000													12	41					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588916	119588916	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119588916C>T	ENST00000267260.4	+	10	1559	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	391	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGGGTGTTCCCGCAGCTCCTC	0.592000													5	48					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48252743	48252743	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252743G>A	ENST00000262018.3	+	9	1145	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000543315.1_Missense_Mutation_p.R246Q|SGCA_ENST00000344627.6_Missense_Mutation_p.R246Q|HILS1_ENST00000504307.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACAGGTGAGCGGCTGCCTCCC	0.647000													5	22					0	0	1	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033362	100033362	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100033362G>A	ENST00000292330.2	-	3	670	c.480C>T	c.(478-480)ctC>ctT	p.L160L	PPP1R35_ENST00000476185.1_Intron|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	160																	GGTCCCGGAAGAGCCGCTTGG	0.721000													6	12					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110788925	110788925	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110788925G>A	ENST00000327908.3	+	3	933	c.169G>A	c.(169-171)Gga>Aga	p.G57R	LRIT3_ENST00000594814.1_Missense_Mutation_p.G240R|LRIT3_ENST00000379920.3_Missense_Mutation_p.G195R|LRIT3_ENST00000409621.2_Missense_Mutation_p.G57R			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	195						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458000													33	59					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408872	82408872	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:82408872G>A	ENST00000370728.1	+	8	1262	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	LPHN2_ENST00000319517.6_Missense_Mutation_p.R206Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R206Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R206Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R210Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R206Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R206Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.R206Q			O95490	LPHN2_HUMAN	latrophilin 2	206	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)		CTTCCAAATCGAGTAGATGGT	0.363000													20	28					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20344870C>T	ENST00000298642.2	+	1	480	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					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)		TGGTGGCTTCCTGGATTATGG	0.468000													46	246					0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275523	1275523	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:1275523G>A	ENST00000316333.8	+	3	617	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	169					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACGAAAAAGGGCCCGGGGCGG	0.652000													13	40					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89179964	89179964	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:89179964C>T	ENST00000286614.6	-	4	924	c.643G>A	c.(643-645)Gga>Aga	p.G215R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	215					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCTCCAATTCCTGGTCCAGGG	0.418000													10	46					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11159760	11159760	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:11159760G>A	ENST00000304623.8	-	12	2276	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CTNND2_ENST00000503622.1_Missense_Mutation_p.S359L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.S605L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S696L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S263L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	696					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGAAGAGGCGAATTTTCCCA	0.537000													24	87					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348135	16348135	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:16348135C>T	ENST00000408042.1	-	23	3992	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACACAGTCTTCCTTCACCAGT	0.468000													30	122					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809042	18809042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18809042C>T	ENST00000400664.1	+	1	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	523						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672000													14	41					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153590083	153590083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153590083G>A	ENST00000422373.1	-	20	3147	c.2899C>T	c.(2899-2901)Cca>Tca	p.P967S	FLNA_ENST00000360319.4_Missense_Mutation_p.P967S|FLNA_ENST00000369850.3_Missense_Mutation_p.P967S|FLNA_ENST00000344736.4_Missense_Mutation_p.P967S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	967					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCCAGGCTTGGAGATACTGCC	0.562000													13	76					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125639737	125639737	+	RNA	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:125639737C>A	ENST00000485843.1	+	0	321					NR_024251.1																						TCTCTCAGAACTCATCAAAAA	0.562000													10	45					3.86212e-05	3.90978e-05	1	1	0
HIST1H1A	3024	broad.mit.edu	37	6	26017611	26017611	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26017611A>G	ENST00000244573.3	-	1	429	c.350T>C	c.(349-351)gTg>gCg	p.V117A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	117					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTTGGTTTCCACGGAGGACGC	0.542000													16	90					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56985659	56985659	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985659C>T	ENST00000299721.3	-	1	222	c.36G>A	c.(34-36)caG>caA	p.Q12Q	CPLX4_ENST00000587244.1_Silent_p.Q12Q	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	12					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AATTCTTTACCTGGTTACTTA	0.373000													13	49					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42936241	42936241	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:42936241G>A	ENST00000407270.3	+	14	1759	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	MTA3_ENST00000406652.1_Intron|MTA3_ENST00000406911.1_Silent_p.K509K|MTA3_ENST00000405592.1_Intron|MTA3_ENST00000405094.1_Intron|MTA3_ENST00000472767.1_3'UTR	NM_020744.2	NP_065795.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CAGAATGTAAGATGCTTTTAA	0.388000													8	10					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48681721	48681721	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48681721C>T	ENST00000544264.1	-	28	8388	c.8108G>A	c.(8107-8109)gGg>gAg	p.G2703E	CELSR3_ENST00000164024.4_Missense_Mutation_p.G2698E			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2698					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAACATGGTCCCGTTCATCTG	0.607000													11	30					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21547156	21547156	+	Missense_Mutation	SNP	G	G	A	rs143586197		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21547156G>A	ENST00000298694.4	+	11	2487	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R787Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	787					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGTGCCTGCGGCGACTCCAG	0.602000													15	27					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528995	101528995	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528995C>T	ENST00000284395.5	+	6	981	c.581C>T	c.(580-582)cCc>cTc	p.P194L	LRRK1_ENST00000532029.2_Missense_Mutation_p.P197L|LRRK1_ENST00000388948.3_Missense_Mutation_p.P197L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCGCTTGCCCCTGTATGCG	0.592000													14	7					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178413884G>A	ENST00000231188.5	-	7	1633	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	GRM6_ENST00000517717.1_Silent_p.G485G|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					detection of visible light|visual perception	integral to plasma membrane		p.G485G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647000													3	28					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607526	84607526	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84607526G>A	ENST00000344803.2	+	4	2188	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCATTGCTACGTCCTCAGAGC	0.473000													14	66					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929143	40929143	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:40929143T>A	ENST00000411995.2	+	6	1862	c.1487T>A	c.(1486-1488)aTt>aAt	p.I496N	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.I394N	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		CATCAGAGAATTCATACTGGA	0.378000													11	36					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49310270	49310270	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310270G>A	ENST00000316273.6	-	2	98	c.86C>T	c.(85-87)tCc>tTc	p.S29F	BCAT2_ENST00000601496.1_5'UTR|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000598162.1_Missense_Mutation_p.S29F	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	29						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GAAACTGGAGGAGGCATATCT	0.567000													6	48					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627528	40627528	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627528T>C	ENST00000397536.2	-	7	841	c.806A>G	c.(805-807)cAg>cGg	p.Q269R	C15orf52_ENST00000559313.1_Missense_Mutation_p.Q479R			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	479										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGCTCCTCTCTGTGGCTCAGG	0.662000													35	58					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390941	169390941	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169390941T>A	ENST00000545005.1	-	4	1235	c.728A>T	c.(727-729)aAt>aTt	p.N243I	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.N243I|CCDC181_ENST00000367806.3_Missense_Mutation_p.N243I					coiled-coil domain containing 181																		ATTTGCATTATTAATGGGAGG	0.398000													25	100					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363931	22363931	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22363931G>A	ENST00000397121.2	-	3	905	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.348000													33	43					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45743070	45743070	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45743070C>T	ENST00000297323.7	+	15	2572	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	850					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGCACTTCCTCATGTCCAACC	0.637000													5	36					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38087117	38087117	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38087117G>A	ENST00000308059.6	+	2	516	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DLEC1_ENST00000452631.2_Silent_p.A165A|DLEC1_ENST00000346219.3_Silent_p.A165A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	165					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGGCTATTGCGGAAAATGAGC	0.542000													11	41					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455287	108455287	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108455287C>T	ENST00000408999.3	+	4	349	c.272C>T	c.(271-273)cCa>cTa	p.P91L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P91L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	91					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAATTAAACCCAACACAAAAA	0.299000													34	31					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63943520	63943520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:63943520G>A	ENST00000443617.2	-	53	10565	c.10478C>T	c.(10477-10479)tCc>tTc	p.S3493F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3493					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						GATACTCCAGGAAACTGGTGA	0.438000													31	78					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891169	44891169	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891169G>A	ENST00000330997.4	-	4	1302	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S420F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S413F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGAAGAACGGAGCTTGAACT	0.493000													11	56					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105807536	105807536	+	Missense_Mutation	SNP	G	G	A	rs138894227	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807536G>A	ENST00000353479.5	-	31	2586	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	COL17A1_ENST00000369733.3_Missense_Mutation_p.R766C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	766	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCACGGATTCCAGGC	0.507000													26	24					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118002	95118002	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:95118002C>A	ENST00000377028.5	-	4	1161	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.G250W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	250					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCGTTCCTCCCAGTGGCAAAG	0.498000													17	42					0.0332995	0.0334975	1	1	0
ING3	54556	broad.mit.edu	37	7	120608018	120608018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120608018C>T	ENST00000315870.5	+	8	735	c.587C>T	c.(586-588)tCt>tTt	p.S196F	ING3_ENST00000431467.1_Missense_Mutation_p.S181F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	196					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACAGCCTCTTCTAACAATGCC	0.388000													11	119					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133984060	133984060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133984060G>A	ENST00000220616.4	+	33	6037	c.5997G>A	c.(5995-5997)cgG>cgA	p.R1999R	TG_ENST00000519543.1_Silent_p.R153R|TG_ENST00000377869.1_Silent_p.R1942R|TG_ENST00000542445.1_Silent_p.R369R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1999			R -> W (in dbSNP:rs2076740).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAACGACGGTGCGATGCGG	0.498000													22	35					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31346827	31346827	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31346827G>A	ENST00000396618.3	+	4	188	c.132G>A	c.(130-132)gaG>gaA	p.E44E	COCH_ENST00000216361.4_Silent_p.E44E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Silent_p.E44E	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	44	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGGAAAGAGAAAGCAGATG	0.463000													10	77					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457169	25457169	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457169C>T	ENST00000264709.3	-	23	3055	c.2718G>A	c.(2716-2718)aaG>aaA	p.K906K	DNMT3A_ENST00000402667.1_Silent_p.K683K|DNMT3A_ENST00000321117.5_Silent_p.K906K|DNMT3A_ENST00000380746.4_Silent_p.K717K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	906					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAATACTCCTTCAGCGGAG	0.498000			"""Mis, F, N, S"""		AML								12	80					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466247	164466247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:164466247C>T	ENST00000333129.3	-	3	2409	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	699						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACCACTGCTTCCTGACACAAA	0.517000													19	34					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519598	74519598	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:74519598C>T	ENST00000373379.1	+	5	756	c.591C>T	c.(589-591)gaC>gaT	p.D197D	UPRT_ENST00000373383.4_Silent_p.D197D|UPRT_ENST00000530743.1_Silent_p.D61D			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	197					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GTTTACGAGACTGCTGTCGAT	0.408000													46	12					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186880	140186880	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186880C>T	ENST00000530339.1	+	1	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S36S|PCDHA4_ENST00000512229.2_Silent_p.S36S	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)			ACTCGGTCTCCGAGGAGGCCA	0.667000													17	79					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221364C>T	ENST00000394729.2	+	14	1689	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	PRKCD_ENST00000330452.3_Missense_Mutation_p.A454V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGGTTTTATGCCGCTGAGATA	0.587000													13	65					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732536	88732536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88732536C>T	ENST00000226284.5	+	7	495	c.428C>T	c.(427-429)gCt>gTt	p.A143V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	143	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAATAAAGCTACAAAAGAG	0.383000													8	19					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707406	96707406	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96707406C>T	ENST00000542454.2	+	3	3748	c.660C>T	c.(658-660)atC>atT	p.I220I	BDKRB2_ENST00000306005.3_Silent_p.I247I|BDKRB2_ENST00000539359.1_Silent_p.I220I|BDKRB2_ENST00000554311.1_Silent_p.I247I|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	247					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGATGCAGATCATGCAGGTGC	0.547000													15	26					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518049	108518049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:108518049G>A	ENST00000375915.2	-	1	1034	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	299						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTCAGGACAGGATTTCACCGA	0.473000													20	68					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804988	44804988	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44804988C>T	ENST00000309315.4	+	16	2175	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	ZMIZ2_ENST00000433667.1_Silent_p.P652P|ZMIZ2_ENST00000413916.1_Silent_p.P626P|ZMIZ2_ENST00000441627.1_Silent_p.P684P|ZMIZ2_ENST00000265346.7_Silent_p.P658P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	684					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAGTGCCCGTGAAGCCTG	0.642000													14	37					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528305	65528305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:65528305G>A	ENST00000310193.3	-	3	966	c.793C>T	c.(793-795)Caa>Taa	p.Q265*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	265					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCTGCTTTGAAAAACTTCT	0.363000													47	216					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54837732	54837732	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:54837732C>T	ENST00000375068.1	+	5	1129	c.896C>T	c.(895-897)cCc>cTc	p.P299L	MAGED2_ENST00000347546.3_Missense_Mutation_p.P243L|MAGED2_ENST00000343474.6_Missense_Mutation_p.P281L|MAGED2_ENST00000375053.2_Missense_Mutation_p.P299L|MAGED2_ENST00000375058.1_Missense_Mutation_p.P299L|MAGED2_ENST00000375062.4_Missense_Mutation_p.P214L|MAGED2_ENST00000375060.1_Missense_Mutation_p.P214L|MAGED2_ENST00000218439.4_Missense_Mutation_p.P299L|MAGED2_ENST00000396224.1_Missense_Mutation_p.P299L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	299	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACGAAGATTCCCATCAAGCGC	0.478000													16	37					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614402	47614402	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47614402C>T	ENST00000371891.3	+	12	1524	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.S400F	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	498						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGTTGAAATCCAAAAATGGA	0.582000													17	63					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12219884	12219884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:12219884G>A	ENST00000491614.1	-	5	592	c.197C>T	c.(196-198)cCc>cTc	p.P66L	NUDT5_ENST00000537776.1_Missense_Mutation_p.P66L|NUDT5_ENST00000378940.3_Missense_Mutation_p.P66L|NUDT5_ENST00000378927.3_Missense_Mutation_p.P66L|NUDT5_ENST00000378937.3_Missense_Mutation_p.P79L|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	66	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCAGCACGGGGATGACCGC	0.502000													7	38					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161018122C>T	ENST00000368013.3	-	12	3009	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E720K|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E686K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	897	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E686K(1)|p.E897K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597000													7	30					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61950421	61950421	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61950421C>T	ENST00000422202.1	+	21	2764	c.2696C>T	c.(2695-2697)cCa>cTa	p.P899L	COL20A1_ENST00000326996.6_Missense_Mutation_p.P892L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P899L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P892L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	892	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GACGTCTACCCAGCCCCCCTA	0.657000													12	47					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164907	139164907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164907G>A	ENST00000395297.1	-	13	1981	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	604										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGAGATGGCATTTTGGTG	0.458000										HNSCC(54;0.14)			27	200					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53625965	53625965	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53625965C>T	ENST00000601215.1	-	3	273	c.258G>A	c.(256-258)agG>agA	p.R86R	ZNF415_ENST00000597503.1_5'UTR|ZNF415_ENST00000594011.1_5'UTR|ZNF415_ENST00000500065.4_Intron|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000595193.1_5'UTR|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000243643.4_5'UTR|ZNF415_ENST00000597748.1_5'UTR|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000600574.1_5'UTR|ZNF415_ENST00000599261.1_Intron|ZNF415_ENST00000595813.1_Intron			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGGGTTTCTTCCTCATGTGCC	0.438000													65	204					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892332	71892332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:71892332C>T	ENST00000258104.3	+	46	5375	c.5098C>T	c.(5098-5100)Cag>Tag	p.Q1700*	DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q1738*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q1722*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q1721*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q1731*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q1717*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q1708*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q1718*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q1701*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q1739*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q1732*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1700						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCCCTCCCAGCTCCTCCA	0.532000													9	96					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677377	3677377	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3677377G>A	ENST00000344754.4	-	10	2538	c.2539C>T	c.(2539-2541)Cat>Tat	p.H847Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H847Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	847	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AACCGACCATGGGATGGGACC	0.622000													27	79					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129802048	129802048	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:129802048G>A	ENST00000358825.5	-	10	1467	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	PRDM10_ENST00000526082.1_Silent_p.I326I|PRDM10_ENST00000528746.1_Silent_p.I386I|PRDM10_ENST00000423662.2_Silent_p.I326I|PRDM10_ENST00000304538.6_Silent_p.I326I|PRDM10_ENST00000360871.3_Silent_p.I412I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTCCAGGCGGATAAATTTTG	0.577000													18	71					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106788	10106788	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10106788G>A	ENST00000264828.3	-	15	1572	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	496	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGATGCCCGGGGAGACCCTT	0.592000													30	108					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465958	10465958	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10465958G>T	ENST00000382483.3	-	4	5873	c.5650C>A	c.(5650-5652)Cag>Aag	p.Q1884K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1884					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACTCTGGCTGGGCCTCTCCT	0.622000													55	303					3.85841e-42	4.02805e-42	1	1	0
IPO9	55705	broad.mit.edu	37	1	201821287	201821287	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821287C>T	ENST00000361565.4	+	5	639	c.570C>T	c.(568-570)ctC>ctT	p.L190L	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	190					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGTCATTCTCCCAGAGATGT	0.418000													10	43					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182856371	182856371	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:182856371C>A	ENST00000367549.3	+	28	3725	c.3615C>A	c.(3613-3615)tcC>tcA	p.S1205S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1205	NTD.			NSFRAGYG -> TPSGRIC (in Ref. 1; AAB48855).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCGCCAACTCCTTTCGGGCAG	0.557000													22	97					3.8784e-16	4.00872e-16	1	1	0
HIP1R	9026	broad.mit.edu	37	12	123343423	123343423	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123343423C>T	ENST00000253083.4	+	21	2214	c.2089C>T	c.(2089-2091)Cac>Tac	p.H697Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	697					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCGCTTCTCCCACCTGGCTGC	0.657000													16	70					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891417	44891417	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891417G>A	ENST00000330997.4	-	4	1054	c.990C>T	c.(988-990)tcC>tcT	p.S330S	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S337S|ZNF285_ENST00000544719.2_Silent_p.S330S	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTTGTGAAGGGAAGAGCTGC	0.478000													29	93					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154069	74154069	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154069G>A	ENST00000443185.2	-	3	1259	c.942C>T	c.(940-942)ccC>ccT	p.P314P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGTGGCGATGGGGTCCAGCT	0.617000													7	41					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132604	8132604	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132604G>A	ENST00000396677.2	-	3	264	c.265C>T	c.(265-267)Cct>Tct	p.P89S	RIC3_ENST00000425599.2_Missense_Mutation_p.P170S|RIC3_ENST00000309737.6_Missense_Mutation_p.P251S|RIC3_ENST00000335425.7_Missense_Mutation_p.P69S|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Missense_Mutation_p.P250S|RIC3_ENST00000539720.1_Missense_Mutation_p.P202S			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	251	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTGGGTCAGGGTAATCCACC	0.418000													38	62					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55056103	55056103	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55056103G>A	ENST00000505374.1	+	4	295	c.203G>A	c.(202-204)aGa>aAa	p.R68K	DDX4_ENST00000353507.5_Missense_Mutation_p.R68K|DDX4_ENST00000354991.5_Missense_Mutation_p.R68K|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Missense_Mutation_p.R68K|SLC38A9_ENST00000504880.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	68	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGGAAACAGAGGTAAGCAT	0.373000													19	60					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30928123	30928123	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:30928123G>A	ENST00000597505.1	-	28	4067	c.4068C>T	c.(4066-4068)ttC>ttT	p.F1356F	DCDC1_ENST00000339794.5_Silent_p.F435F|DCDC1_ENST00000406071.2_Silent_p.F91F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCCTTGTAAGAAGGGCTTCT	0.453000													11	24					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483501	26483501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:26483501C>T	ENST00000295589.3	-	5	1240	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATGGGGGTTCCTGAGAGGCG	0.597000													19	61					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499323	141499323	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:141499323G>A	ENST00000264952.2	+	2	857	c.720G>A	c.(718-720)aaG>aaA	p.K240K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	240	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTGGAAAAGGAAATCTTGG	0.498000													19	76					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407413	50407413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:50407413G>A	ENST00000217086.4	-	2	1720	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	537					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACTCCCTTGGAAGCCACCA	0.582000													86	124					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100857229	100857229	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100857229G>A	ENST00000341469.2	-	4	629	c.620C>T	c.(619-621)cCc>cTc	p.P207L	TRIM14_ENST00000375098.3_Missense_Mutation_p.P207L|TRIM14_ENST00000342043.3_Missense_Mutation_p.P207L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	207						cytoplasm|intracellular	zinc ion binding	p.P207L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTGACGGGCTCAAAGGA	0.587000													20	125					0	0	1	0	0
NSUN3	63899	broad.mit.edu	37	3	93803120	93803120	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:93803120G>A	ENST00000314622.4	+	3	503	c.292G>A	c.(292-294)Ggc>Agc	p.G98S		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	98							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAACTCCGGGCCGAATCCC	0.423000													12	55					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643253	185643253	+	Splice_Site	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185643253C>G	ENST00000453386.2	-	3	607	c.333_splice	c.e3+1	p.R111_splice	TRA2B_ENST00000382191.4_Splice_Site_p.R11_splice	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	111	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.R111L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TCATCTTACCCGATTCCCAAC	0.443000													16	59					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76240831	76240831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76240831C>T	ENST00000310842.4	-	6	1199	c.515G>A	c.(514-516)aGg>aAg	p.R172K	AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	172										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGGCTGCCTCCTGGAATGGCT	0.537000													17	19					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30785254	30785254	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30785254G>A	ENST00000246229.4	-	3	756	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACTCTCAAAGGTCTGCAGGC	0.617000													6	31					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104264	17104264	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17104264G>A	ENST00000443236.1	-	12	1400	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P410S	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	410						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						GGGATGGAGGGGATTTCAAAC	0.577000													8	19					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43624966	43624966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:43624966C>T	ENST00000332857.6	-	4	3749	c.3721G>A	c.(3721-3723)Ggg>Agg	p.G1241R		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGGGAAACCCACAGACTGGG	0.507000													37	405					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4385176	4385176	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385176G>T	ENST00000262366.3	+	6	1459	c.638G>T	c.(637-639)gGc>gTc	p.G213V	GLIS2_ENST00000433375.1_Missense_Mutation_p.G213V|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCGCCATGGCCGAGGTTTC	0.657000													22	50					5.43694e-19	5.64332e-19	1	1	0
UNC79	57578	broad.mit.edu	37	14	94149038	94149038	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94149038G>A	ENST00000553484.1	+	44	7154	c.7000G>A	c.(7000-7002)Gga>Aga	p.G2334R	UNC79_ENST00000555664.1_Missense_Mutation_p.G2273R|UNC79_ENST00000256339.4_Missense_Mutation_p.G2135R|UNC79_ENST00000393151.2_Missense_Mutation_p.G2312R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2312						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						CTCTGTACCTGGAGTAAGTCC	0.383000													14	39					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66031281	66031281	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:66031281A>T	ENST00000349533.6	+	3	218	c.33A>T	c.(31-33)ttA>ttT	p.L11F	LEPR_ENST00000344610.8_Missense_Mutation_p.L11F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.L11F|LEPR_ENST00000371059.3_Missense_Mutation_p.L11F|LEPR_ENST00000371060.3_Missense_Mutation_p.L11F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	11					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTTTTGTTACATTGGGGTA	0.323000													10	41					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58287927	58287927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58287927C>T	ENST00000219299.4	+	3	333	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	85						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCCAAATCCCGGACAGGT	0.493000													9	74					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364834	22364834	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22364834C>T	ENST00000263160.3	+	3	818	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	127					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGGGATGATCCACGGTTCCT	0.542000													16	109					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59612891	59612891	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59612891G>A	ENST00000257248.2	-	1	83	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	12					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						CTGTAGCCCAGAGAAGGCTCA	0.522000													53	178					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665797	19665797	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:19665797C>T	ENST00000328041.6	+	12	1313	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	372						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGTGGCCATCAAAATCC	0.537000													14	115					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467477	74467477	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74467477C>T	ENST00000249842.3	+	2	635	c.278C>T	c.(277-279)gCc>gTc	p.A93V	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A93V	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	93					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCGGAGCCCTGGCCTCT	0.632000													6	50					0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19444407	19444407	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19444407G>A	ENST00000263202.9	-	8	728	c.599C>T	c.(598-600)cCc>cTc	p.P200L	UFD1L_ENST00000399523.1_Missense_Mutation_p.P200L|UFD1L_ENST00000360834.4_Missense_Mutation_p.P189L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	200					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					Ttgtctttcgggttctttgta	0.468000													7	11					0	0	1	0	0
TSC22D3	1831	broad.mit.edu	37	X	106957810	106957810	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957810G>A	ENST00000372383.4	-	3	909	c.542C>T	c.(541-543)cCt>cTt	p.P181L	TSC22D3_ENST00000315660.4_Missense_Mutation_p.P181L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.P113L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.P91L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.P115L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.P181L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.P181L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.P58L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	115							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						TGGCTCTTCAGGGCTCAGACA	0.597000													101	20					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573017	103573017	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103573017C>T	ENST00000285402.3	+	2	814	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ODF1_ENST00000518835.1_Missense_Mutation_p.P13S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	220	C-X-P repeat region.		Missing.		cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cccctgcaacccctgcagccc	0.557000													20	70					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502624	12502624	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12502624A>C	ENST00000419318.1	-	4	1241	c.492T>G	c.(490-492)ccT>ccG	p.P164P	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.P196P			Q96GE5	ZN799_HUMAN	zinc finger protein 799	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACATTTATAAGGTCCATCTC	0.408000													27	90					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810588	70810588	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70810588A>G	ENST00000246891.4	+	15	472	c.423A>G	c.(421-423)caA>caG	p.Q141Q	CSN1S1_ENST00000507763.1_Silent_p.Q132Q|CSN1S1_ENST00000505782.1_Silent_p.Q125Q|CSN1S1_ENST00000507772.1_Silent_p.Q133Q|CSN1S1_ENST00000444405.3_Silent_p.Q132Q	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	141						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGCTCAACCAACTTGCTGCCT	0.423000													123	249					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133423717	133423717	+	Splice_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:133423717C>A	ENST00000266880.7	-	16	1744		c.e16-1		CHFR_ENST00000541837.2_Splice_Site|CHFR_ENST00000537522.1_Splice_Site|CHFR_ENST00000450056.2_Splice_Site|CHFR_ENST00000432561.2_Splice_Site|CHFR_ENST00000443047.2_Splice_Site|CHFR_ENST00000315585.7_Splice_Site|CHFR_ENST00000541341.1_Splice_Site			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase						cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCAGGTAATTCTGTGACGCAA	0.443000													8	38					3.09899e-07	3.15019e-07	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79234188	79234188	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79234188G>A	ENST00000374759.3	-	11	1521	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.L380L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	380					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGACCCACAGCACCACCTGA	0.677000													6	13					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301114	29301114	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:29301114C>T	ENST00000378993.1	+	3	815	c.142C>T	c.(142-144)Cct>Tct	p.P48S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P48S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	48	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGTGGGAGAGCCTGTTCGAAT	0.398000													22	18					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187529	152187529	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187529C>T	ENST00000368801.2	-	3	6651	c.6576G>A	c.(6574-6576)tcG>tcA	p.S2192S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2192					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)			AGGAGTGCCCCGAACCGGACC	0.637000													26	454					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982847	9982847	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9982847G>T	ENST00000383811.3	+	6	1289	c.690G>T	c.(688-690)ttG>ttT	p.L230F	CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.L230F|CRELD1_ENST00000326434.5_Missense_Mutation_p.L230F|CRELD1_ENST00000397170.3_Missense_Mutation_p.L230F	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	230					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAAACTGTTTGCAATGCAAGA	0.592000													21	58					1.9806e-07	2.01484e-07	1	1	0
ST7	7982	broad.mit.edu	37	7	116759690	116759690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:116759690C>T	ENST00000265437.5	+	3	524	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	ST7_ENST00000393444.3_Missense_Mutation_p.L61F|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393451.3_Missense_Mutation_p.L104F|ST7_ENST00000393443.1_Missense_Mutation_p.L54F|ST7_ENST00000432298.1_Missense_Mutation_p.L58F|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393447.4_Missense_Mutation_p.L61F|ST7_ENST00000393446.2_Missense_Mutation_p.L104F|ST7_ENST00000393449.1_Missense_Mutation_p.L104F|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000422922.1_Missense_Mutation_p.L58F|ST7_ENST00000323984.3_Missense_Mutation_p.L104F|ST7_ENST00000465133.1_Missense_Mutation_p.L61F	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	104						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCGCCCCCTTCTGGGAGG	0.418000													18	109					0	0	1	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933443	31933443	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31933443C>T	ENST00000334849.2	-	1	190	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	56						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GACCAGTATCCCCCATAGCAT	0.443000													25	92					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048186	6048186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6048186G>A	ENST00000316650.5	-	1	785	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		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)		GATGAAGTGGGAGCCACATGT	0.498000													10	56					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848307	54848307	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54848307G>A	ENST00000291759.4	-	6	1116	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	354	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTGGTCAGAAGGAAAGTGAAC	0.587000													22	151					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158553	2158553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158553G>A	ENST00000262304.4	-	15	6823	c.6615C>T	c.(6613-6615)gcC>gcT	p.A2205A	PKD1_ENST00000423118.1_Silent_p.A2205A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2205	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCGGGCAGGGCCACACGCG	0.687000													5	21					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719238	140719238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140719238G>A	ENST00000394576.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTCCTGGATGCGAACGA	0.597000													13	61					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169053673	169053673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:169053673G>A	ENST00000354536.5	+	11	1303	c.1083G>A	c.(1081-1083)cgG>cgA	p.R361R	SMOC2_ENST00000356284.2_Silent_p.R350R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	350	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TAGAGGAGCGGGTGGTGCACT	0.517000													17	32					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169459	45169459	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169459C>T	ENST00000260653.3	+	1	558	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	72					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcTCCAGGGCCCCCCCGGAAG	0.761000													9	9					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249490	102249490	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:102249490T>A	ENST00000370345.3	-	22	3091	c.2994A>T	c.(2992-2994)ccA>ccT	p.P998P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	998	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCTGGGGGCTGGGGCTTCTT	0.468000													14	76					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075855	145075855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:145075855C>T	ENST00000369359.4	-	1	46	c.8G>A	c.(7-9)gGc>gAc	p.G3D	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.G3D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G3D|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.G3D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGTCTGTGCCCTTCATGGA	0.672000			T	PDGFRB	MPD								5	58					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978201	61978201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61978201C>T	ENST00000370263.4	-	6	1994	c.1773G>A	c.(1771-1773)tgG>tgA	p.W591*	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	591					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCACGTACTTCCAGTCCTCCT	0.682000													41	48					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30012590	30012590	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:30012590G>A	ENST00000346128.6	-	19	3209	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	TJP1_ENST00000545208.2_Missense_Mutation_p.S912F|TJP1_ENST00000400011.2_Missense_Mutation_p.S916F|TJP1_ENST00000356107.6_Missense_Mutation_p.S912F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	912					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AAATCCAGGGGAGTCTATTCT	0.423000													81	154					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137704485	137704485	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137704485C>T	ENST00000371817.3	+	48	4193	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	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)		CGAGGACCCTCCGGAGCTCCA	0.632000													3	15					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36012652	36012652	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36012652C>T	ENST00000373578.2	+	4	445	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SRC_ENST00000373567.2_Silent_p.F32F|SRC_ENST00000373558.2_Silent_p.F32F|SRC_ENST00000358208.4_Silent_p.F32F|SRC_ENST00000360723.4_Silent_p.F32F|SRC_ENST00000445403.1_Silent_p.F32F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	32					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGGGCGCTTTCCCCGCCTCGC	0.751000													11	25					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57554760	57554760	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57554760C>T	ENST00000243077.3	+	13	2530	c.2064C>T	c.(2062-2064)caC>caT	p.H688H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	688					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGCTCACACCGAGACATCT	0.622000													21	135					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	PDYN_ENST00000540134.1_Missense_Mutation_p.R212W|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587000													26	149					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591858	60591858	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:60591858C>T	ENST00000406854.1	+	9	3523	c.2969C>T	c.(2968-2970)cCt>cTt	p.P990L	PCNXL4_ENST00000535349.1_Missense_Mutation_p.P197L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.P756L|PCNXL4_ENST00000317623.4_Missense_Mutation_p.P756L|PCNXL4_ENST00000404681.2_Missense_Mutation_p.P990L					pecanex-like 4 (Drosophila)																		AATATGGCTCCTAGTCCTGGT	0.378000													12	25					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35632247	35632247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632247G>A	ENST00000373664.3	-	21	2960	c.2894C>T	c.(2893-2895)cCt>cTt	p.P965L	RBL1_ENST00000344359.3_Missense_Mutation_p.P965L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	965					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATGTGGAAAAGGAGAGAGTGG	0.398000													13	51					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7171649	7171649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7171649C>T	ENST00000406697.1	+	8	1098	c.470C>T	c.(469-471)tCc>tTc	p.S157F	C1S_ENST00000328916.3_Missense_Mutation_p.S157F|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.S157F			P09871	C1S_HUMAN	complement component 1, s subcomponent	157	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TACTTCTGCTCCTGCCCCCCG	0.453000													61	116					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107603364G>A	ENST00000393561.1	-	13	2099	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	LAMB1_ENST00000222399.6_Missense_Mutation_p.R615C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R615C			P07942	LAMB1_HUMAN	laminin, beta 1	615	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGTAGCGAATTAGGATG	0.453000													16	100					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181905	120181905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:120181905C>T	ENST00000328078.1	+	1	444	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	123					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCCCCATCCGGCGCGACGA	0.642000													26	28					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503753	47503753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503753C>T	ENST00000404338.3	+	6	4308	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1436	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCTTCTTCTTCTACAATCGGC	0.597000													22	101					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449634	91449634	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:91449634C>T	ENST00000266719.3	-	2	672	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	142					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTAAACTTCTTGGCAATGG	0.418000													45	103					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783618	140783618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140783618C>T	ENST00000573521.1	+	1	1099	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATTCTTCTTTTCAA	0.413000													28	25					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44273502	44273502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44273502G>C	ENST00000244571.4	-	10	1324	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	441					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCACACAGTGACAAGGACCA	0.542000													22	95					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760510	54760510	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54760510G>A	ENST00000450632.1	-	3	274	c.197C>T	c.(196-198)cCa>cTa	p.P66L	LILRB5_ENST00000316219.5_Missense_Mutation_p.P66L|LILRB5_ENST00000449561.2_Missense_Mutation_p.P66L|LILRB5_ENST00000345866.6_Missense_Mutation_p.P66L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	66	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGGCCCATGGGAGTCCCTC	0.617000													95	118					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477972	149477972	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149477972C>T	ENST00000378016.2	+	0	1743							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTACTCCTTCTGGGGTG	0.677000													6	39					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177077242	177077242	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177077242C>T	ENST00000393643.2	+	18	2725	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	WDR17_ENST00000507824.2_Silent_p.L832L|WDR17_ENST00000508596.1_Silent_p.L825L|WDR17_ENST00000280190.4_Silent_p.L849L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	849										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGACAAAGCCCTGTCAATTGC	0.373000													27	108					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1322852	1322852	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322852G>A	ENST00000400809.3	-	11	1327	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	CCNL2_ENST00000408952.5_Missense_Mutation_p.S219F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	441					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAATCTCAGAGCCTTTGTA	0.642000													9	28					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580019	145580019	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:145580019C>T	ENST00000296575.3	+	3	1205	c.550C>T	c.(550-552)Cca>Tca	p.P184S	HHIP_ENST00000434550.2_Missense_Mutation_p.P184S|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	184						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCCAGATTTTCCAAGAAAACA	0.373000													28	85					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103548459	103548459	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103548459C>T	ENST00000358392.2	-	2	493	c.176G>A	c.(175-177)gGa>gAa	p.G59E	COL11A1_ENST00000370096.3_Missense_Mutation_p.G59E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G59E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G59E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	59	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTGCAAAATCCCGTTGTTTT	0.373000													20	48					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114284805	114284805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284805G>A	ENST00000393500.3	+	14	1650	c.830G>A	c.(829-831)gGc>gAc	p.G277D	FOXP2_ENST00000393491.3_Missense_Mutation_p.G260D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G331D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G260D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G352D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G369D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G352D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G376D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G377D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G352D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G352D			O15409	FOXP2_HUMAN	forkhead box P2	352					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AAATGGCCAGGCTGTGAAAGC	0.458000													13	49					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369503	135369503	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:135369503C>T	ENST00000368517.3	-	9	607	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SYCE1_ENST00000343131.5_Missense_Mutation_p.E193K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E157K|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	193					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		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)		AGCAGCTGCTCCTTGCTGCTG	0.582000													24	53					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589835	108589835	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108589835T>A	ENST00000332082.4	+	3	1044	c.226T>A	c.(226-228)Ttc>Atc	p.F76I	WSCD2_ENST00000549903.1_Missense_Mutation_p.F76I|WSCD2_ENST00000261400.3_Missense_Mutation_p.F76I|WSCD2_ENST00000547525.1_Missense_Mutation_p.F76I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	76						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						GGGCAGAGGTTTCCGGGACAC	0.622000													37	179					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244136	56244136	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56244136C>T	ENST00000332836.2	-	2	1088	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	354	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGTCTTCTCCCCTCTCTAG	0.413000													51	83					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397869	72397869	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72397869C>T	ENST00000340595.3	+	14	2321	c.2125C>T	c.(2125-2127)Cta>Tta	p.L709L	SLC4A4_ENST00000351898.6_Silent_p.L753L|SLC4A4_ENST00000425175.1_Silent_p.L753L|SLC4A4_ENST00000264485.5_Silent_p.L753L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	753						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACCCCAAAACTAATTGTGCC	0.383000													7	47					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228246955	228246955	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228246955C>T	ENST00000284523.1	+	4	926	c.848C>T	c.(847-849)cCc>cTc	p.P283L	WNT3A_ENST00000366753.2_Missense_Mutation_p.P283L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	283					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCTGCGAGCCCAACCCTGAG	0.701000													6	12					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183397	1183397	+	Silent	SNP	G	G	A	rs75025906	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1183397G>A	ENST00000333813.3	+	1	441	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	34			E -> D.		response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAAGGCAGAGAACAAGGATG	0.607000													18	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436451	25436451	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25436451G>A	ENST00000424208.1	+	0	1046				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTGGTGAGCTGAAGCTCAGGC	0.637000													17	51					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454574	29454574	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454574G>A	ENST00000377127.3	-	1	1164	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	369						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTGCTCCCTGGGAAGAAGGTT	0.517000													21	80					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25481637	25481637	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25481637C>T	ENST00000278886.6	-	8	944	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NINL_ENST00000422516.1_Missense_Mutation_p.E291K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	291					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGCCGCTCTCCTCTGGGACC	0.612000													11	20					0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275522	1275522	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:1275522G>A	ENST00000316333.8	+	3	616	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	169					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CACGAAAAAGGGCCCGGGGCG	0.652000													13	40					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224682	248224682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248224682G>A	ENST00000359959.3	+	1	699	c.699G>A	c.(697-699)agG>agA	p.R233R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478000													74	105					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50780155	50780155	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50780155G>A	ENST00000440075.2	+	29	3869	c.3822G>A	c.(3820-3822)cgG>cgA	p.R1274R	MYH14_ENST00000601313.1_Silent_p.R1274R|MYH14_ENST00000596571.1_Silent_p.R1233R|MYH14_ENST00000262269.8_Silent_p.R1274R|MYH14_ENST00000598205.1_Silent_p.R1241R|MYH14_ENST00000425460.1_Silent_p.R1241R|MYH14_ENST00000376970.2_Silent_p.R1266R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1233					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCAGGCCCGGagggtgggtt	0.726000													5	28					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52841197	52841197	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:52841197G>A	ENST00000371568.3	-	15	2426	c.2208C>T	c.(2206-2208)tcC>tcT	p.S736S	ORC1_ENST00000371566.1_Silent_p.S736S	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	736	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTTCTGCTGGGAGAACTCAC	0.517000													18	51					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95262787	95262787	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95262787G>A	ENST00000297596.2	-	5	906	c.642C>T	c.(640-642)gaC>gaT	p.D214D	GEM_ENST00000396194.2_Silent_p.D214D	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	214					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGAACTTGCAGTCAAACACCA	0.562000													12	24					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611609	140611609	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140611609C>T	ENST00000460843.1	+	3	644	c.617C>T	c.(616-618)aCc>aTc	p.T206I	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.T206I|EHMT1_ENST00000334856.6_Missense_Mutation_p.T175I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	206					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACGCAAGACCATGCCGAAG	0.572000													13	57					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53221365	53221365	+	Silent	SNP	C	C	T	rs41295962	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221365C>T	ENST00000394729.2	+	14	1690	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A	PRKCD_ENST00000330452.3_Silent_p.A454A	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGTTTTATGCCGCTGAGATAA	0.592000													13	64					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114046	107114046	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:107114046C>T	ENST00000454421.2	-	0	126																											CACTGGACACCTGCAAACACA	0.527000													23	138					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058789	152058789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152058789G>A	ENST00000368806.1	-	3	1433	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	457							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAAGTTCAGGGTGAGTCTGA	0.448000													93	156					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396634	136396634	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396634C>T	ENST00000264160.4	+	14	1531	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	R3HDM1_ENST00000410054.1_Silent_p.V331V|R3HDM1_ENST00000409478.1_Silent_p.V343V|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Silent_p.V387V|R3HDM1_ENST00000329971.3_Silent_p.V343V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	387							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAATCTCAGTCCTGACAAGAG	0.458000													34	103					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61451328	61451328	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61451328G>A	ENST00000343916.3	+	5	306	c.303G>A	c.(301-303)ggG>ggA	p.G101G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	101	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCCCCTGGGGAACGGGTAA	0.662000													10	88					0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998678	8998678	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8998678T>A	ENST00000310455.3	-	2	634	c.484A>T	c.(484-486)Ata>Tta	p.I162L	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.I162L	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	162	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCATCCTTATTTTCACGGTC	0.512000													80	122					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417132	20417132	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417132C>T	ENST00000375108.3	+	5	632	c.364C>T	c.(364-366)Cta>Tta	p.L122L	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	122					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CAAGAGAAACCTACGGAGCTA	0.537000													25	73					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75503393	75503393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75503393C>T	ENST00000360639.2	+	3	3400	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	C15orf39_ENST00000567617.1_3'UTR|C15orf39_ENST00000394987.4_Missense_Mutation_p.S1027F			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	1027										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACAAGTCCTCAAGACCA	0.637000													7	30					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267512	150267512	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267512C>T	ENST00000367351.3	+	3	427	c.354C>T	c.(352-354)ccC>ccT	p.P118P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	118	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGCAGAACCCCTCACCCTGC	0.512000													13	73					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35723363	35723363	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35723363G>A	ENST00000382034.5	+	8	889	c.547G>A	c.(547-549)Gac>Aac	p.D183N	TOM1_ENST00000436462.2_Missense_Mutation_p.D212N|TOM1_ENST00000411850.1_Missense_Mutation_p.D250N|TOM1_ENST00000447733.1_Missense_Mutation_p.D217N|TOM1_ENST00000449058.2_Missense_Mutation_p.D250N|TOM1_ENST00000425375.1_Missense_Mutation_p.D205N			O60784	TOM1_HUMAN	target of myb1 (chicken)	250					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGAGCCCGCAGACCTGGAGCT	0.627000													4	31					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425686	74425686	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:74425686C>T	ENST00000429990.1	+	7	1136	c.1040C>T	c.(1039-1041)aCt>aTt	p.T347I						nuclear pore complex interacting protein family, member B15																		CCcttagctactcaggaggcc	0.542000													19	126					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160311	56160311	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56160311G>A	ENST00000588740.1	+	2	45		c.e2-1		CCDC106_ENST00000586790.1_5'UTR|CCDC106_ENST00000308964.3_Intron|CCDC106_ENST00000591578.1_5'UTR|CCDC106_ENST00000591241.1_5'UTR			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106							nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACCTCCCCCAGGATGGACCCT	0.657000													24	60					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884393	110884393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884393G>A	ENST00000265171.5	+	9	1822	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	EGF_ENST00000509793.1_Nonsense_Mutation_p.W417*|EGF_ENST00000503392.1_Nonsense_Mutation_p.W459*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	459	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGTATCCTGGGAATGTGATT	0.458000													24	112					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17116981	17116981	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17116981C>T	ENST00000285071.4	-	14	2182	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	576					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGTTCCGAGACTCCGAGGCTG	0.572000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				27	49					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232176	33232176	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33232176C>T	ENST00000445902.2	-	14	1717	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	VPS52_ENST00000436044.2_Missense_Mutation_p.G375E|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	500					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCCAACCCCCCTAGGCGCTG	0.562000													11	86					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750223	79750223	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:79750223G>A	ENST00000305428.3	+	2	1809	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	578						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGGAGACAAGGGCAACCGGC	0.522000													42	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590733	179590733	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179590733G>A	ENST00000589042.1	-	70	20540	c.20316C>T	c.(20314-20316)acC>acT	p.T6772T	TTN_ENST00000591111.1_Silent_p.T6455T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5528T|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6455	Ig-like 49.						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)			CATTTTTAAGGGTTTCTACTA	0.403000													9	55					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436049	158436049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158436049G>A	ENST00000289451.2	+	1	778	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCCGTTGGAAGATACAAG	0.448000													18	87					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169824937	169824937	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169824937C>T	ENST00000263817.6	-	17	2199	c.2075_splice	c.e17+1	p.R692_splice		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	692					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTGAGCTTACCTTAAACTATC	0.423000													6	16					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748836	38748836	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38748836C>T	ENST00000449082.2	-	25	4319	c.4320G>A	c.(4318-4320)aaG>aaA	p.K1440K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1440					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTAGTATTTCTTCTGCTCCT	0.537000													47	100					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596778	39596778	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596778C>T	ENST00000246646.3	-	1	395	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	132	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTGTGGCCTCCAGCTCCGCAT	0.592000													18	100					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952790	33952790	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:33952790G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCAAAACAAGGGGAAGCGGGC	0.592000													4	40					0	0	1	0	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749105	89749105	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:89749105C>T	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA																							GTCCGTAATTCCCTGGCGCAG	0.582000													6	20					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291267	62291267	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62291267G>A	ENST00000378024.4	-	5	10896	c.10622C>T	c.(10621-10623)cCc>cTc	p.P3541L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3541					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)				GGAGATCTTGGGAGCTTTGAT	0.468000													46	237					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34921999	34921999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34921999C>T	ENST00000356577.4	+	3	937	c.462C>T	c.(460-462)tcC>tcT	p.S154S	SON_ENST00000290239.6_Silent_p.S154S|SON_ENST00000381679.4_Silent_p.S154S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.S154S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	154					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.S154S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATCTGATTCCTTTTTAAAGT	0.398000													4	25					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650550	90650550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:90650550C>T	ENST00000282146.4	+	2	871	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	144						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GTTCTTCAACCTCTTCCTGGA	0.557000													20	110					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688107	18688107	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:18688107C>T	ENST00000406451.3	+	11	1409	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	HDAC9_ENST00000405010.3_Missense_Mutation_p.P420L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P407L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P392L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P376L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P379L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P343L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P418L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P423L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P420L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	420					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTTACATCCTCAGTCTCCC	0.438000													11	78					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10630991	10630991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:10630991G>A	ENST00000254958.5	-	9	1653	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	JAG1_ENST00000423891.2_Missense_Mutation_p.P221S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	380	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTTATTAGGAGAACAGTCA	0.458000									Alagille Syndrome				21	27					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890177	76890177	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:76890177C>T	ENST00000373344.5	-	17	4931	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1535N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1573					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGCAGCAATCCCACATAAAC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						207	55					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963669	88963669	+	Missense_Mutation	SNP	C	C	T	rs150650174		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:88963669C>T	ENST00000333190.4	+	4	1982	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	458						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTCAATGGCCTACGGAACTT	0.423000										HNSCC(36;0.09)			14	98					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390290	107390290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:107390290G>A	ENST00000429433.2	-	5	2754	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	BEND3_ENST00000369042.1_Missense_Mutation_p.P702L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	702										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTCGTCCAAGGGGATCTTGCA	0.617000													10	74					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36855595	36855595	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36855595C>T	ENST00000279024.4	-	7	2284	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	671										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGCCGCCTCCTTCTCCCCCA	0.602000													10	63					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500535	149500535	+	Silent	SNP	G	G	A	rs143375423	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149500535G>A	ENST00000261799.4	-	18	2971	c.2502C>T	c.(2500-2502)atC>atT	p.I834I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	834	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCTTCACAGATGAGCACGT	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								18	63					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50390808	50390808	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50390808C>T	ENST00000221543.5	+	14	1819	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	TBC1D17_ENST00000535102.2_Missense_Mutation_p.P474L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	507	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCCTTCCCGGATGTCCTT	0.632000													13	30					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996846	29996846	+	Silent	SNP	C	C	T	rs141623258		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996846C>T	ENST00000308893.4	+	14	2778	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	TAOK2_ENST00000416441.2_Silent_p.L406L|TAOK2_ENST00000543033.1_Silent_p.L579L|TAOK2_ENST00000279394.3_Silent_p.L579L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	579					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGCTGCCCTGCTGGAGGC	0.637000													6	34					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47841404	47841404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47841404G>A	ENST00000240364.2	-	1	125	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	16										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ccgcgccccggcccccaggca	0.806000													3	2					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58740467	58740467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58740467C>T	ENST00000305921.3	+	6	1604	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	458					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAGATAGCTCGAGAGAATGT	0.433000											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	71					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101174571	101174571	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:101174571C>T	ENST00000388798.2	+	2	254	c.63C>T	c.(61-63)ccC>ccT	p.P21P	SPAG1_ENST00000251809.3_Silent_p.P21P|SPAG1_ENST00000520643.1_Silent_p.P21P|SPAG1_ENST00000520508.1_Silent_p.P21P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	21					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCAAAATTCCCATTGAACATC	0.294000													5	22					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535173	132535173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:132535173C>T	ENST00000265342.7	-	16	2392	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	715						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGTGATCTCCTGCACGTGC	0.582000													8	58					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687894	27687894	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27687894C>T	ENST00000438700.3	-	4	1750	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	545					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGACTACTTCTCTTTTACCA	0.393000													17	62					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126011730	126011730	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:126011730C>T	ENST00000265896.5	+	1	983	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	29					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CAGGGAGGTCCTGTTGTGCGT	0.572000													10	29					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151235901	151235901	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:151235901G>A	ENST00000274576.4	-	5	812	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.P91S|GLRA1_ENST00000455880.2_Missense_Mutation_p.P174S	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	174					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCCATGGGGAAATTCTTC	0.502000													8	48					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019433	76019433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019433C>T	ENST00000275560.3	-	11	2018	c.1671G>A	c.(1669-1671)tgG>tgA	p.W557*	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	557	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGTGGGCATCCCAGCGGATAT	0.602000													9	98					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838688	3838688	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3838688C>T	ENST00000278243.4	+	3	472	c.271C>T	c.(271-273)Cct>Tct	p.P91S	AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.P91S|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000496834.2_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	91					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CATCACTTTTCCTGTGTTCGG	0.602000													14	57					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893854	32893854	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:32893854C>T	ENST00000330048.5	-	0	1403					NR_003083.2																						GGACTCACTCCCAGAACTCGA	0.622000													13	94					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586136	82586136	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82586136G>A	ENST00000423517.2	-	5	4470	c.4133C>T	c.(4132-4134)cCa>cTa	p.P1378L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1378L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1309					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						AATAAGACTTGGAATTTCACC	0.448000													7	69					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80019150	80019150	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80019150G>A	ENST00000354321.7	-	7	1262	c.777C>T	c.(775-777)atC>atT	p.I259I	DUS1L_ENST00000306796.5_Silent_p.I259I			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	259					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCTCCCGCACGATGTCCAGAT	0.672000													8	23					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	21001409	21001409	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21001409C>T	ENST00000383233.3	-	3	172		c.e3-1		TMEM241_ENST00000542162.1_Splice_Site|TMEM241_ENST00000450466.2_Splice_Site|TMEM241_ENST00000399707.1_Intron	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241							integral to membrane											CGTCTGCCACCTGGAAAGGAC	0.493000													8	31					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257804	98257804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98257804G>A	ENST00000265634.3	+	5	1324	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	387	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCGCACAAGAAATTGTCAA	0.572000													4	12					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716871	13716871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13716871C>T	ENST00000279593.3	-	13	3510	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1101					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)	TCGTCAAACTCCCTGCGGGAC	0.612000													35	33					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159184341	159184341	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:159184341T>A	ENST00000297239.9	+	16	1717	c.1523T>A	c.(1522-1524)cTc>cAc	p.L508H	SYTL3_ENST00000367081.3_Missense_Mutation_p.L234H|SYTL3_ENST00000360448.3_Missense_Mutation_p.L440H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCAGCTGTCTCACTCTGCCA	0.532000													6	34					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327572G>A	ENST00000326441.9	-	10	2601	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	PEG3_ENST00000598410.1_Silent_p.D622D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.D620D|PEG3_ENST00000423103.2_Silent_p.D746D|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	746					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D746E(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACGCCTTTTCGTCCTCATCAC	0.408000													74	162					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000274203.9_Silent_p.I1369I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478000													71	102					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068544	71068544	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71068544C>T	ENST00000396094.2	+	9	768	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	240					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAGGAGTTTTCATGCCCTCAA	0.408000													13	34					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135123021	135123021	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135123021G>A	ENST00000428680.2	-	2	338	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CNOT4_ENST00000414802.1_Missense_Mutation_p.P20L|CNOT4_ENST00000423368.2_Missense_Mutation_p.P20L|CNOT4_ENST00000451834.1_Missense_Mutation_p.P20L|CNOT4_ENST00000541284.1_Missense_Mutation_p.P20L|CNOT4_ENST00000356162.4_Missense_Mutation_p.P20L|CNOT4_ENST00000361528.4_Missense_Mutation_p.P20L|CNOT4_ENST00000315544.5_Missense_Mutation_p.P20L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	20					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATCTCCAAGGGCTCCATGCA	0.433000													16	33					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124829770	124829770	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124829770G>A	ENST00000529051.1	+	4	646	c.387G>A	c.(385-387)agG>agA	p.R129R	CCDC15_ENST00000344762.5_Silent_p.R129R			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	129						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTTCCAAAAGGACAAGTGTTT	0.428000													5	21					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141541	239141541	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239141541G>A	ENST00000456601.1	+	0	906																											TGCAGGGTCGGGCAGTGGTTT	0.493000													22	92					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192110	22192110	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:22192110C>T	ENST00000390425.2	+	0	151																											CCCCCAATCCCGCCCGCCGTG	0.582000													57	101					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72961047	72961047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:72961047G>A	ENST00000264839.7	+	15	2674	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E892K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E892K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E892K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E351K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E892K|RIMS1_ENST00000401910.3_Missense_Mutation_p.E366K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E366K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E285K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E892K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E892K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E892K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	892					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)				TATTCATGGAGAAAGCTCTAG	0.383000													4	6					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021729	73021729	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021729C>T	ENST00000263674.3	+	1	2396	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	682					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCACCATGGCCCTGGGACTG	0.657000													12	44					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639524	21639524	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21639524C>T	ENST00000328843.6	+	15	2818	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F	DNAH11_ENST00000409508.3_Silent_p.F929F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				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						ACTTAGACTTCTTTCTGAAGA	0.398000									Kartagener syndrome				8	38					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214171352C>T	ENST00000366958.4	+	2	2082	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PROX1_ENST00000261454.4_Missense_Mutation_p.P492S|PROX1_ENST00000435016.1_Missense_Mutation_p.P492S|PROX1_ENST00000498508.2_Missense_Mutation_p.P492S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592000													16	70					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78636502	78636502	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:78636502G>A	ENST00000354212.4	-	2	575	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	MAGI2_ENST00000522391.1_Missense_Mutation_p.L108F|MAGI2_ENST00000419488.1_Missense_Mutation_p.L108F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	108						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTGACGAAGGTCTTTATCA	0.378000													10	63					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28116344	28116344	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28116344G>A	ENST00000354638.3	-	21	2355	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	OCA2_ENST00000353809.5_Silent_p.L710L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	734					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GACGACGCCAGGGCTGAGACC	0.572000									Oculocutaneous Albinism				16	65					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809897	41809897	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41809897G>T	ENST00000392006.3	+	13	2166	c.1993G>T	c.(1993-1995)Ggt>Tgt	p.G665C	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G551C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G665C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G576C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	665	Gly-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCGGAGGTGGTGGCTATAG	0.557000													33	54					2.87052e-16	2.96924e-16	1	1	0
IL2RB	3560	broad.mit.edu	37	22	37524553	37524553	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524553C>T	ENST00000216223.5	-	10	1437	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	413					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGTCGTCCTCCCCTGACAGAG	0.652000													19	25					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979405	230979405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:230979405G>A	ENST00000366663.5	-	3	762	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	C1orf198_ENST00000523410.1_Nonsense_Mutation_p.Q78*|C1orf198_ENST00000470540.1_Nonsense_Mutation_p.Q170*|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	208										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAGCGACTGGAACTCGGCC	0.637000													18	75					0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55667649	55667649	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55667649G>A	ENST00000344887.5	-	5	344	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	TNNI3_ENST00000588882.1_Missense_Mutation_p.R43W|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	68	Involved in binding TNC.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCTCCGCGCCGCTCCTCCGCC	0.682000													4	44					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718139	117718139	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117718139C>T	ENST00000368508.3	-	7	916	c.718G>A	c.(718-720)Gat>Aat	p.D240N	ROS1_ENST00000368507.3_Missense_Mutation_p.D249N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	240	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCCCTGCATCTAATTTTTGA	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								32	121					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124789	67124789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:67124789G>A	ENST00000284425.2	-	8	1264	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	364					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGGCAAAAGGGCTACAAATA	0.373000													15	107					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151151947C>T	ENST00000367328.1	+	16	2012	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S567F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGAT	0.517000													32	68					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721717	7721717	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7721717C>T	ENST00000572933.1	+	69	11935	c.10475C>T	c.(10474-10476)cCc>cTc	p.P3492L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3492L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3492	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTCCAACCCCCACTACAGC	0.522000													28	176					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132999915	132999915	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132999915G>A	ENST00000254624.5	+	18	2256	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E	EFR3A_ENST00000334503.4_Silent_p.E677E|EFR3A_ENST00000519656.1_Silent_p.E641E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	677						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGTGTTGAGAGATTGTCAG	0.373000													5	12					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	419011	419011	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:419011C>T	ENST00000264554.6	-	12	1665	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	556	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGTGGTGGTCGATCAGGTGG	0.672000													4	2					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947307	51947307	+	Missense_Mutation	SNP	C	C	T	rs148070358		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51947307C>T	ENST00000371117.3	-	4	439	c.164G>A	c.(163-165)gGc>gAc	p.G55D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G55D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	55	IPT/TIG 1; atypical.				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)					CAATTGAGAGCCATTGTTGGG	0.478000													11	60					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47797715	47797715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47797715C>T	ENST00000240364.2	-	4	625	c.546G>A	c.(544-546)ggG>ggA	p.G182G	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	182										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CTGCGTGGTCCCCTAGGAGTG	0.582000													38	64					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919528	94919528	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94919528G>A	ENST00000289495.5	+	18	4020	c.3804G>A	c.(3802-3804)agG>agA	p.R1268R	PPP1R9A_ENST00000424654.1_Silent_p.R1225R|PPP1R9A_ENST00000433881.1_Silent_p.R1070R|PPP1R9A_ENST00000433360.1_Silent_p.R1346R|PPP1R9A_ENST00000340694.4_Silent_p.R1070R|PPP1R9A_ENST00000456331.2_Silent_p.R1225R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1070						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAGCTAAGGAGAAAGGAGC	0.448000										HNSCC(28;0.073)			4	27					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200538	101200538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:101200538C>T	ENST00000341267.4	+	5	699	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	DLK1_ENST00000331224.6_Missense_Mutation_p.H153Y	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	153	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGGGCCTCCCATGCCTCCTG	0.637000													18	74					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165102	139165102	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139165102C>T	ENST00000395297.1	-	13	1786	c.1616G>A	c.(1615-1617)aGg>aAg	p.R539K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	539										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGGACTCCTTCTAGAAGT	0.498000										HNSCC(54;0.14)			10	66					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327227	54327227	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54327227C>T	ENST00000324134.6	-	1	370	c.202G>A	c.(202-204)Gag>Aag	p.E68K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E68K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E68K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E68K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E68K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E68K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E68K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E68K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	68	DAPIN.				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)		CTCCAGGCCTCCTCTGGCCCG	0.617000													26	156					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86773151	86773151	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86773151G>A	ENST00000373119.4	+	1	400	c.255G>A	c.(253-255)caG>caA	p.Q85Q	KLHL4_ENST00000373114.4_Silent_p.Q85Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	85						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.Q85H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCCCATCAGAGAGCCGTTC	0.453000													8	46					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472858	58472858	+	Missense_Mutation	SNP	G	G	A	rs35437132	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58472858G>A	ENST00000314391.3	-	5	534	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	145						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		CCTAATAACGGTATCCTGAGG	0.458000													22	109					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308568	248308568	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248308568T>G	ENST00000366476.1	+	1	119	c.119T>G	c.(118-120)aTg>aGg	p.M40R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GTGGCCTTCATGGGAAACTCT	0.522000													120	183					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318152	46318152	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46318152G>A	ENST00000221538.3	-	1	425	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P95S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	95						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AACTCTGAGGGAAAGCCCGTG	0.602000													8	37					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919661	45919661	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45919661G>A	ENST00000395629.2	+	2	427	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E43K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	43					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGCCTGGAGGAGTTTGAGGA	0.542000													4	33					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051361	110051361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110051361G>A	ENST00000369864.4	-	2	523	c.174C>T	c.(172-174)tcC>tcT	p.S58S	AMIGO1_ENST00000369862.1_Silent_p.S58S			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	58	LRRNT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AACTGGGCAAGGAATGGGGCA	0.642000													8	30					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100174847	100174847	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174847G>A	ENST00000370575.4	-	1	94	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	16							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCCGGGAAGGGAGAGGCGGCC	0.592000													23	64					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130581106	130581106	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130581106C>T	ENST00000344849.3	-	11	1597	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ENG_ENST00000373203.4_Silent_p.K439K|RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_Intron			P17813	EGLN_HUMAN	endoglin	439	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGCAGTGCACCTTTTTCTGGG	0.637000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				77	158					0	0	1	0	0
IZUMO4	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:2096977G>T	ENST00000395307.2	+	1	598	c.33G>T	c.(31-33)acG>acT	p.T11T	IZUMO4_ENST00000395296.1_Silent_p.T11T|IZUMO4_ENST00000395301.3_Silent_p.T11T	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	11						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGTGCCTGACGGCGGCGCTGG	0.672000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	50					5.3912e-06	5.46796e-06	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944497	55944497	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55944497C>T	ENST00000312298.1	+	1	404	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	135					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)					TACACTGTAGCCATGTCTGAT	0.453000													38	76					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1584266	1584266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584266G>A	ENST00000572621.1	-	6	1214	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P317S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	317						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACAAGTAAGGAAAAGCAATC	0.443000													47	212					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190363561	190363561	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363561C>T	ENST00000412504.2	+	10	1527	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	IL1RAP_ENST00000439062.1_Silent_p.L425L|IL1RAP_ENST00000072516.3_Silent_p.L425L|IL1RAP_ENST00000317757.3_Silent_p.L425L|IL1RAP_ENST00000447382.1_Silent_p.L425L|IL1RAP_ENST00000443369.2_Silent_p.L425L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	425	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TACTGACCCTCCGTGGAGTTT	0.408000													29	49					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118390382	118390382	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118390382C>T	ENST00000534358.1	+	32	11219	c.11196C>T	c.(11194-11196)ttC>ttT	p.F3732F	RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Silent_p.F3729F|KMT2A_ENST00000354520.4_Silent_p.F3691F|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGTTGTGTTCCTCATTGAGC	0.512000													64	103					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915171	915171	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:915171C>T	ENST00000544583.2	-	19	2477	c.1878G>A	c.(1876-1878)gaG>gaA	p.E626E	ABR_ENST00000543210.2_Silent_p.E123E|ABR_ENST00000536794.2_Silent_p.E454E|ABR_ENST00000291107.2_Silent_p.E635E|ABR_ENST00000302538.5_Silent_p.E672E|ABR_ENST00000572441.1_Intron|ABR_ENST00000574437.1_Silent_p.E626E	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	672					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TACCCCTCTTCTCCACCTCCT	0.652000													16	49					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287594	46287594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46287594C>T	ENST00000378966.3	+	2	742	c.326C>T	c.(325-327)cCc>cTc	p.P109L	SPERT_ENST00000310521.1_Missense_Mutation_p.P145L			Q8NA61	SPERT_HUMAN	spermatid associated	145						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)		CTGCAGTCTCCCTACTTCTCC	0.617000													12	49					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134881	81134881	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81134881C>T	ENST00000534142.1	-	0	1614				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCCCTTCCTCCGACAGCT	0.458000													9	40					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953082	140953082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140953082G>A	ENST00000253811.6	-	16	2475	c.2335C>T	c.(2335-2337)Ctc>Ttc	p.L779F	DIAPH1_ENST00000398557.4_Missense_Mutation_p.L779F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L770F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L770F|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L758F|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L725F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L770F|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L779F			O60610	DIAP1_HUMAN	diaphanous-related formin 1	779	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCGGAGCTGCACCTCT	0.453000													75	114					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845880	20845880	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20845880G>A	ENST00000262715.5	-	40	5794	c.5754C>T	c.(5752-5754)ccC>ccT	p.P1918P	TEP1_ENST00000556935.1_Silent_p.P1810P|TEP1_ENST00000545983.1_Silent_p.P256P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1918					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTGCCCACGGGGCCGACCCA	0.577000													14	70					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337547	19337547	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:19337547C>T	ENST00000252575.5	+	7	1368	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	442					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCTCATGGCCCACTGGGGAA	0.622000													4	17					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978769	247978769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247978769T>C	ENST00000357627.1	-	1	262	c.263A>G	c.(262-264)aAc>aGc	p.N88S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAAATGGAGTTGTTGTGTAT	0.448000													8	40					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34072526	34072526	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072526C>T	ENST00000389232.4	+	65	9322	c.9252C>T	c.(9250-9252)acC>acT	p.T3084T	RYR3_ENST00000415757.3_Silent_p.T3084T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3084					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)		ACACCAAAACCCCCAGGGAGA	0.557000													5	27					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70004462C>T	ENST00000361484.3	-	1	480	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACCAGCTCCCTGAAGGAG	0.582000													12	40					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592030	101592030	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101592030T>G	ENST00000284395.5	+	25	3945	c.3545T>G	c.(3544-3546)gTg>gGg	p.V1182G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1185G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1185					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGAGGATGTGCAGTACTTC	0.642000													11	25					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21968824	21968824	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21968824G>A	ENST00000261200.4	-	32	3895	c.3896C>T	c.(3895-3897)cCt>cTt	p.P1299L	ABCC9_ENST00000345162.2_Missense_Mutation_p.P1263L|ABCC9_ENST00000261201.4_Missense_Mutation_p.P1299L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1299					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AACTTGAGAAGGATCTGGAGG	0.358000													12	52					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587787	64587787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587787G>A	ENST00000498707.1	-	26	4192	c.3850C>T	c.(3850-3852)Cca>Tca	p.P1284S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1256S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1284	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGTTTCTGGGATATAATCC	0.542000													25	69					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237804216	237804216	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237804216G>A	ENST00000366574.2	+	47	7452	c.7135G>A	c.(7135-7137)Gat>Aat	p.D2379N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2377N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2363N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2379	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)			GGAGGAGGAAGATGACACTAT	0.428000													7	27					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351346	40351346	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:40351346G>T	ENST00000310169.2	+	4	952	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	271					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGTCTCCCTGGGAGTGACCA	0.507000													43	163					1.52319e-26	1.5877e-26	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140389515	140389515	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140389515G>A	ENST00000406427.1	-	19	2433	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	PNPLA7_ENST00000371457.1_Silent_p.A280A|PNPLA7_ENST00000277531.4_Silent_p.A674A	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	674					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGACGTGAGGGCTCCTGCCG	0.647000													13	75					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534436	152534436	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152534436G>A	ENST00000427231.2	-	33	3723	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	NEB_ENST00000409198.1_Missense_Mutation_p.A1174V|NEB_ENST00000603639.1_Missense_Mutation_p.A1174V|NEB_ENST00000397345.3_Missense_Mutation_p.A1174V|NEB_ENST00000604864.1_Missense_Mutation_p.A1174V|NEB_ENST00000172853.10_Missense_Mutation_p.A1174V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1174					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)		CAGGTCCATGGCGTCAGGCAA	0.453000													13	52					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90770854	90770854	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90770854C>T	ENST00000411539.2	+	13	2014	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	SEMA4B_ENST00000379122.3_Missense_Mutation_p.S580F|SEMA4B_ENST00000332496.6_Missense_Mutation_p.S585F	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCGGTTGTGTCCCCGTCTTTT	0.592000													16	40					0	0	1	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854781	21854781	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21854781G>A	ENST00000415645.2	-	4	510	c.471C>T	c.(469-471)atC>atT	p.I157I	NPIPB4_ENST00000357370.5_Silent_p.I157I|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR					nuclear pore complex interacting protein family, member B4																		TCCTCTTACGGATTTTAGCTC	0.383000													12	187					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104776209	104776209	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:104776209G>A	ENST00000532510.1	-	0	3223																											GCAGCGCCAGGAATATCTCTG	0.443000													23	90					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537656	37537656	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37537656G>A	ENST00000432825.2	-	3	918	c.870C>T	c.(868-870)gaC>gaT	p.D290D	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	290						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACATTAAAAAGTCAGAGTCCT	0.542000													6	40					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381544	49381544	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:49381544G>A	ENST00000406846.2	-	1	132	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	FSHR_ENST00000304421.4_Silent_p.L5L|FSHR_ENST00000346173.3_Silent_p.L5L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	5					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAAGAGACCAGGAGCAGGGCC	0.493000									Gonadal Dysgenesis, 46 XX				14	56					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541602	15541603	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15541602_15541603delGC	ENST00000428417.1	+	2	465_466	c.19_20delGC	c.(19-21)cfs	p.A7fs	TMEM51_ENST00000400796.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000376014.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000376008.2_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000434578.2_Frame_Shift_Del_p.A7fs	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	7						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGTCCAAGGCCAATGGCTCG	0.569													21	60	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230643188	230643198	+	Frame_Shift_Del	DEL	TAAGAAGCGAA	TAAGAAGCGAA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:230643188_230643198delTAAGAAGCGAA	ENST00000283943.5	-	35	5268_5278	c.5090_5100delTTCGCTTCTTA	c.(5089-5100)tfs	p.FRFL1697fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.FRFL1427fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.FRFL1745fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1697					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)		TTAATTTTCCTAAGAAGCGAAACTTCATCTT	0.427													12	115	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121695040	121695041	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:121695040_121695041insAT	ENST00000393386.2	+	27	6838_6839	c.6427_6428insAT	c.(6427-6429)ttgfs	p.L2143fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.L1276fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2143	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAGCCTATAAATTGTGAGAGC	0.332													42	102	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													4	6	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													5	5	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													9	362	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	99478745	99478745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99478745delC	ENST00000547776.2	-	16	2582	c.2583delG	c.(2581-2583)ggfs	p.G861fs	ANKS1B_ENST00000549493.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000549558.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000550693.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000547010.1_Frame_Shift_Del_p.G437fs|ANKS1B_ENST00000547446.1_Frame_Shift_Del_p.G56fs|ANKS1B_ENST00000332712.7_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.G861fs|ANKS1B_ENST00000546960.1_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000549025.2_Frame_Shift_Del_p.G30fs|ANKS1B_ENST00000546568.1_Frame_Shift_Del_p.G87fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	861	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTGTCTGTGCCCAGAATTAA	0.388													8	35	---	---	---	---					
MNS1	55329	broad.mit.edu	37	15	56756290	56756291	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56756290_56756291delGC	ENST00000260453.3	-	2	322_323	c.158_159delGC	c.(157-159)cfs	p.R53fs		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	53					meiosis			p.R53H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GAAATTGCTTGCGCTGAACACG	0.327													83	112	---	---	---	---					
TIPIN	54962	broad.mit.edu	37	15	66645208	66645209	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:66645208_66645209delGA	ENST00000261881.4	-	2	162_163	c.77_78delTC	c.(76-78)tfs	p.F26fs	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	26					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTGGAGGTGGGAAAGGAGGAAA	0.455													42	72	---	---	---	---					
KRT39	390792	broad.mit.edu	37	17	39114919	39114933	+	In_Frame_Del	DEL	ATCCTTAATCTCCTT	ATCCTTAATCTCCTT	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39114919_39114933delATCCTTAATCTCCTT	ENST00000355612.2	-	7	1431_1445	c.1396_1410delAAGGAGATTAAGGAT	c.(1396-1410)del	p.KEIKD466del	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	466	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGACCTTCCCATCCTTAATCTCCTTGGTGATGGTG	0.498													40	98	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47376030	47376030	+	Splice_Site	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:47376030delC	ENST00000285039.7	-	32	4521	c.4221_splice	c.e32-1	p.D1408_splice	MYO5B_ENST00000324581.6_Splice_Site_p.D523_splice|MYO5B_ENST00000592688.1_5'UTR|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1408					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)		TCTTTAAGGTCCTGGAAGCAG	0.507													28	114	---	---	---	---