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
PPP6C	5537	broad.mit.edu	37	9	127933365	127933365	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:127933365T>A	ENST00000451402.1	-	3	501	c.282_splice	c.e3+1	p.Q94_splice	PPP6C_ENST00000373547.4_Splice_Site_p.Q57_splice|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Splice_Site_p.Q57_splice	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	57					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAATTTTACCTGTCCATGGAT	0.378000													81	28					0	0	0.003610	0	0
SVIL	6840	broad.mit.edu	37	10	29812856	29812856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:29812856G>A	ENST00000375398.2	-	17	3136	c.2687C>T	c.(2686-2688)aCa>aTa	p.T896I	SVIL_ENST00000375400.3_Missense_Mutation_p.T470I|SVIL_ENST00000355867.4_Missense_Mutation_p.T896I			O95425	SVIL_HUMAN	supervillin	896					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGGTGGCTTTGTGCGAAGATC	0.463000													33	21					0	0	0.002836	0	0
ALPK3	57538	broad.mit.edu	37	15	85400485	85400485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:85400485C>T	ENST00000258888.5	+	6	3289	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1041					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)			TTCCAGTGCCCCAAGGAGGAG	0.642000													14	11					0	0	0.001855	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120300219	120300219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:120300219G>A	ENST00000397843.2	+	9	822	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R116Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R200Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	219					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)		GAACAGGAACGGCTACAGGTA	0.358000			T	MLL	AML								21	28					0	0	0.002299	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938344	2938344	+	Silent	SNP	C	C	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:2938344C>A	ENST00000378404.2	+	1	299	c.94C>A	c.(94-96)Cgg>Agg	p.R32R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	32						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTTTGGACCCCGGCACATGGT	0.577000													4	29					2.56e-06	1.8282e-05	0.000248	1	0
RSPO1	284654	broad.mit.edu	37	1	38082336	38082336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:38082336C>T	ENST00000356545.2	-	5	893	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	RSPO1_ENST00000401068.1_Missense_Mutation_p.G36R|RSPO1_ENST00000401070.1_Missense_Mutation_p.G36R|RSPO1_ENST00000373059.1_Missense_Mutation_p.G9R|RSPO1_ENST00000401069.1_Missense_Mutation_p.G36R|RSPO1_ENST00000401071.2_Missense_Mutation_p.G36R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	36					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTGGCTCCCCTCGGCACTG	0.557000													22	29					0	0	0.001882	0	0
GPR125	166647	broad.mit.edu	37	4	22390458	22390458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:22390458G>A	ENST00000334304.5	-	19	3105	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	946					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTGCGCTCAGGGTGTCTTTTC	0.448000													29	39					0	0	0.008361	0	0
PRKD2	25865	broad.mit.edu	37	19	47192935	47192935	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr19:47192935G>A	ENST00000433867.1	-	15	2307	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	PRKD2_ENST00000595515.1_Silent_p.I610I|PRKD2_ENST00000291281.4_Silent_p.I610I|PRKD2_ENST00000601806.1_Silent_p.I453I|PRKD2_ENST00000600194.1_Silent_p.I453I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	610	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAGGTTCACGATCCCGGGAT	0.587000													40	44					0	0	0.002852	0	0
CD4	920	broad.mit.edu	37	12	6909590	6909590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:6909590C>T	ENST00000011653.4	+	3	425	c.167C>T	c.(166-168)tCc>tTc	p.S56F	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	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	56	Ig-like V-type.				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)				TGGAAAAACTCCAACCAGATA	0.473000													8	20					0	0	0.006214	0	0
TMEM74	157753	broad.mit.edu	37	8	109796863	109796863	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:109796863C>T	ENST00000297459.3	-	2	643	c.465G>A	c.(463-465)ttG>ttA	p.L155L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	155					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTTCAGATATCAAAGATATGG	0.498000													22	30					0	0	0.002299	0	0
CXorf21	80231	broad.mit.edu	37	X	30578040	30578040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chrX:30578040G>A	ENST00000378962.3	-	3	755	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	145										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTCTCAGAGGGAAAATCTGTT	0.433000													15	3					0	0	0.006122	0	0
AGBL5	60509	broad.mit.edu	37	2	27280274	27280274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:27280274C>T	ENST00000360131.4	+	9	1798	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	AGBL5_ENST00000323064.8_Missense_Mutation_p.P547S	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	547					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGCTTTCCCCTCCAGATA	0.522000													46	28					0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31599485	31599485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:31599485C>T	ENST00000261592.5	-	6	1150	c.853G>A	c.(853-855)Gag>Aag	p.E285K	NOL4_ENST00000589544.1_Missense_Mutation_p.E285K|NOL4_ENST00000538587.1_Missense_Mutation_p.E211K|NOL4_ENST00000269185.4_Missense_Mutation_p.E171K|NOL4_ENST00000535475.1_Missense_Mutation_p.E130K|NOL4_ENST00000535384.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	285						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						TCTCCCATCTCCCTGCTGTGT	0.507000													5	36					0	0	0.000602	0	0
C10orf137	26098	broad.mit.edu	37	10	127412503	127412503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:127412503C>T	ENST00000337623.3	+	4	613	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	C10orf137_ENST00000356792.4_Nonsense_Mutation_p.Q170*	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.Q170*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGATCGTCTCAGGTAATGCT	0.398000													22	15					0	0	0.002299	0	0
HMOX1	3162	broad.mit.edu	37	22	35782755	35782755	+	Silent	SNP	C	C	T	rs148073049	by1000genomes	TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:35782755C>T	ENST00000216117.8	+	3	561	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	74					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	p.F74F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GCCCAGTCTTCGCCCCTGTCT	0.612000													14	31					0	0	0.003163	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489978	123489978	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:123489978G>T	ENST00000280562.5	-	6	966	c.761C>A	c.(760-762)tCc>tAc	p.S254Y	PITPNM2_ENST00000546049.1_Missense_Mutation_p.S254Y|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S254Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S254Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	254					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATCTTACGGGAAAGCATGAG	0.637000													33	64					1.22384e-17	9.10791e-17	0.002836	1	0
SLC38A10	124565	broad.mit.edu	37	17	79226242	79226242	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:79226242G>A	ENST00000374759.3	-	13	2081	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	SLC38A10_ENST00000288439.5_Silent_p.A566A	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	566					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)			CCTCCTCCAAGGCCTGGGCCT	0.627000													25	35					0	0	0.008361	0	0
L2HGDH	79944	broad.mit.edu	37	14	50713919	50713919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr14:50713919C>T	ENST00000267436.4	-	10	1646	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	L2HGDH_ENST00000261699.4_Intron|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E417K			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	417					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ACAAAATCTTCTACCAGATTT	0.453000													9	20					0	0	0.006214	0	0
CAMK1D	57118	broad.mit.edu	37	10	12858327	12858327	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:12858327G>A	ENST00000378847.3	+	8	1170	c.833_splice	c.e8+1	p.W278_splice	CAMK1D_ENST00000378845.1_Splice_Site_p.W278_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	278	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CGGCACCCATGGTAAGGAAAT	0.502000													71	47					0	0	0.003610	0	0
SYCP2	10388	broad.mit.edu	37	20	58476769	58476769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:58476769G>A	ENST00000357552.3	-	16	1355	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S377L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	377					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATTTCTAGTGATGCGTCAAA	0.279000													13	19					0	0	0.001855	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638892	26638892	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:26638892C>T	ENST00000264866.4	+	5	632	c.354C>T	c.(352-354)atC>atT	p.I118I	TBC1D19_ENST00000511789.1_Silent_p.I53I|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	118						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTGAGTATCCCACTGGCAC	0.303000													15	9					0	0	0.004990	0	0
HTR3B	9177	broad.mit.edu	37	11	113802112	113802112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:113802112G>A	ENST00000260191.2	+	3	477	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HTR3B_ENST00000537778.1_Missense_Mutation_p.E63K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	74					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCAGGATGCAGAGAATCAAAT	0.328000													5	14					0	0	0.003080	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675875	46675875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:46675875C>T	ENST00000274793.7	-	10	1089	c.893G>A	c.(892-894)tGg>tAg	p.W298*	PLA2G7_ENST00000537365.1_Nonsense_Mutation_p.W298*	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	298					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGAAACATCCATGCATCCAG	0.358000													17	32					0	0	0.007413	0	0
CCDC116	164592	broad.mit.edu	37	22	21990800	21990800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:21990800C>T	ENST00000292779.3	+	5	1444	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	428										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TCTCACTTCTCCAACCGCCTT	0.592000													12	12					0	0	0.001368	0	0
ITGAV	3685	broad.mit.edu	37	2	187516797	187516797	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:187516797A>C	ENST00000261023.3	+	15	1760	c.1486A>C	c.(1486-1488)Aca>Cca	p.T496P	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.T450P|ITGAV_ENST00000374907.3_Missense_Mutation_p.T460P	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	496					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTGCCTGGAACAGCTCTCAA	0.393000													12	21					0	0	0.002450	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128887	3128887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:3128887G>A	ENST00000380266.3	-	2	1151	c.830C>T	c.(829-831)tCc>tTc	p.S277F	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	277					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTGAGACAAGGATAGATCCTT	0.363000													29	26					0	0	0.006320	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346636	140346636	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:140346636G>A	ENST00000289269.5	+	1	817	c.285G>A	c.(283-285)acG>acA	p.T95T	PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		95	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTGACGAGTGGAGCGC	0.677000													28	6					0	0	0.005443	0	0
RRBP1	6238	broad.mit.edu	37	20	17614161	17614161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:17614161G>A	ENST00000377813.1	-	8	2857	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	RRBP1_ENST00000377807.2_Missense_Mutation_p.R419W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R852W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R419W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R193W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	852					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGAGCTTTCCGCTGCTGCTCA	0.622000													4	31					0	0	0.000248	0	0
PHKB	5257	broad.mit.edu	37	16	47722962	47722962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:47722962C>T	ENST00000455779.1	+	28	2805	c.2620C>T	c.(2620-2622)Cat>Tat	p.H874Y	PHKB_ENST00000323584.5_Missense_Mutation_p.H881Y|PHKB_ENST00000566044.1_Missense_Mutation_p.H874Y|PHKB_ENST00000299167.8_Missense_Mutation_p.H881Y			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	881					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGGATCATCCATGCCATGGA	0.448000													16	29					0	0	0.006122	0	0
WASF1	8936	broad.mit.edu	37	6	110423339	110423339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:110423339G>A	ENST00000392589.1	-	10	1810	c.974C>T	c.(973-975)cCa>cTa	p.P325L	WASF1_ENST00000392587.2_Missense_Mutation_p.P325L|WASF1_ENST00000392588.1_Missense_Mutation_p.P325L|WASF1_ENST00000359451.2_Missense_Mutation_p.P325L|WASF1_ENST00000392586.1_Missense_Mutation_p.P325L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	325	Poly-Pro.				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)		TGGAGGAGGTGGGGGAGTGGG	0.517000													31	46					0	0	0.003755	0	0
CRH	1392	broad.mit.edu	37	8	67089264	67089264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:67089264C>T	ENST00000276571.3	-	2	895	c.449G>A	c.(448-450)aGa>aAa	p.R150K		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	150					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCGCCTTTCTCTCTCCGGTGC	0.677000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	7					0	0	0.000978	0	0
PLCL1	5334	broad.mit.edu	37	2	198950307	198950307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:198950307G>A	ENST00000428675.1	+	2	2464	c.2066G>A	c.(2065-2067)gGg>gAg	p.G689E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G591E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	689	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTTCAAAACGGGGGATGTGGT	0.468000													34	71					0	0	0.003755	0	0
ZNF532	55205	broad.mit.edu	37	18	56585630	56585630	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:56585630T>G	ENST00000336078.4	+	4	887	c.111T>G	c.(109-111)caT>caG	p.H37Q	ZNF532_ENST00000591808.1_Missense_Mutation_p.H37Q|ZNF532_ENST00000591230.1_Missense_Mutation_p.H37Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.H37Q|ZNF532_ENST00000589288.1_Missense_Mutation_p.H37Q	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACGATGACCATGAAAGCCACA	0.493000													8	29					0	0	0.003080	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215878	21215878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr14:21215878G>A	ENST00000326842.2	+	2	266	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	47					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGAATTCAAAGAGTACAAATG	0.383000													16	24					0	0	0.004007	0	0
C8B	732	broad.mit.edu	37	1	57425769	57425769	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:57425769A>G	ENST00000543257.1	-	3	583	c.17T>C	c.(16-18)gTt>gCt	p.V6A	C8B_ENST00000371237.4_Missense_Mutation_p.V58A|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	58					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCAGGGTAACATCCACACT	0.488000													31	21					0	0	0.008361	0	0
SGSM1	129049	broad.mit.edu	37	22	25264413	25264413	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:25264413G>A	ENST00000400358.4	+	11	1122	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	SGSM1_ENST00000400359.4_Silent_p.K355K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	355						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCTTCCCCAAGGGCGGGCACC	0.652000													13	42					0	0	0.002450	0	0
ROS1	6098	broad.mit.edu	37	6	117678055	117678055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:117678055G>A	ENST00000368508.3	-	25	4076	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	ROS1_ENST00000368507.3_Missense_Mutation_p.S1288F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1293					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)		GCCAAAATTGGAAACTTCTGT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	19					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	169995204	169995204	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:169995204G>A	ENST00000263816.3	-	75	13686	c.13401C>T	c.(13399-13401)ctC>ctT	p.L4467L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4467					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)	AGGGCTTGACGAGACTGCTTA	0.408000													11	23					0	0	0.001368	0	0
ZNF213	7760	broad.mit.edu	37	16	3188500	3188500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:3188500C>T	ENST00000396878.3	+	3	956	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ZNF213_ENST00000416391.2_Silent_p.H27H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R161W|ZNF213_ENST00000576416.1_Missense_Mutation_p.R161W	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	161					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGTGGGGGCACGGAGGCGGCC	0.672000													26	21					0	0	0.003954	0	0
FRMD5	84978	broad.mit.edu	37	15	44211676	44211676	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:44211676G>A	ENST00000417257.1	-	4	486	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	FRMD5_ENST00000484674.1_Silent_p.L15L|FRMD5_ENST00000402883.1_Silent_p.L104L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	104	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTTCTTTCAGAGCAGCAGGG	0.517000													103	85					0	0	0.003610	0	0
MS4A1	931	broad.mit.edu	37	11	60233627	60233627	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:60233627C>A	ENST00000534668.1	+	5	859	c.570C>A	c.(568-570)ttC>ttA	p.F190L	MS4A1_ENST00000389939.2_Missense_Mutation_p.F190L|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.F190L|MS4A1_ENST00000532073.1_Missense_Mutation_p.F190L	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	190					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)	AATCTCTGTTCTTGGTAAGTG	0.418000													9	45					2.74318e-10	2.02024e-09	0.006214	1	0
CLDN4	1364	broad.mit.edu	37	7	73245888	73245888	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:73245888C>T	ENST00000435050.1	+	2	3037	c.357C>T	c.(355-357)atC>atT	p.I119I	CLDN4_ENST00000340958.2_Silent_p.I119I|CLDN4_ENST00000431918.1_Silent_p.I119I			O14493	CLD4_HUMAN	claudin 4	119					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				AGACCATGATCGTGGCGGGCG	0.602000													11	19					0	0	0.001855	0	0
TMF1	7110	broad.mit.edu	37	3	69097533	69097533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:69097533G>A	ENST00000543976.1	-	2	569	c.323C>T	c.(322-324)aCc>aTc	p.T108I	CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.T108I|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	108					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTCTGAATGGTCTGGACATC	0.453000													64	110					0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55953824	55953824	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:55953824C>T	ENST00000263923.4	-	27	3907	c.3612G>A	c.(3610-3612)gaG>gaA	p.E1204E	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1204					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATACTTCCTCCTCCTCCATAC	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	26					0	0	0.000602	0	0
SLC4A5	57835	broad.mit.edu	37	2	74460550	74460550	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:74460550G>A	ENST00000394019.2	-	23	2971	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	SLC4A5_ENST00000359484.4_Silent_p.N756N|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.N858N|SLC4A5_ENST00000377632.1_Silent_p.N858N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.N858N|SLC4A5_ENST00000358683.4_Silent_p.N756N|SLC4A5_ENST00000346834.4_Silent_p.N858N|SLC4A5_ENST00000423644.1_Silent_p.N858N	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	858						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTCCTTCCGGTTGACAATGA	0.532000													22	54					0	0	0.003954	0	0
LDB3	11155	broad.mit.edu	37	10	88445448	88445448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:88445448C>T	ENST00000458213.2	+	5	480	c.335C>T	c.(334-336)tCt>tTt	p.S112F	LDB3_ENST00000372056.4_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.S112F|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Missense_Mutation_p.S112F|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000352360.5_Intron			O75112	LDB3_HUMAN	LIM domain binding 3	132						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTAGTCAACTCTCCAGCCAAG	0.587000													14	104					0	0	0.002450	0	0
DSEL	92126	broad.mit.edu	37	18	65180318	65180318	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:65180318G>T	ENST00000310045.7	-	2	3031	c.1558C>A	c.(1558-1560)Cag>Aag	p.Q520K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	510						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTATTACACTGGCTTGAGGGT	0.493000													6	24					8.12818e-05	0.000574663	0.001984	1	0
HELZ2	85441	broad.mit.edu	37	20	62192794	62192794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:62192794G>A	ENST00000467148.1	-	13	6931	c.6862C>T	c.(6862-6864)Cgg>Tgg	p.R2288W	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1719W	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGGGCCTGCCGGATCCGGTGG	0.637000													70	70					0	0	0.003610	0	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000													4	44					0	0	0.000602	0	0
BSN	8927	broad.mit.edu	37	3	49700470	49700470	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:49700470G>C	ENST00000296452.4	+	7	10993	c.10879G>C	c.(10879-10881)Ggc>Cgc	p.G3627R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3627					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCTGAGGAGGGCCTGTGGCC	0.667000													9	34					0	0	0.008291	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833837	101833837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:101833837G>A	ENST00000263468.8	+	6	2341	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E492K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	691							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGTCCAGGGAGGATTCTAT	0.383000													35	53					0	0	0.002222	0	0
PRSS8	5652	broad.mit.edu	37	16	31144273	31144273	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:31144273C>T	ENST00000317508.6	-	4	531	c.266_splice	c.e4-1	p.E90_splice	PRSS8_ENST00000568261.1_Intron	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	90	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TTGTGGTGCTCGCTGCAGGCA	0.607000													50	35					0	0	0.003610	0	0
GHR	2690	broad.mit.edu	37	5	42689066	42689066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:42689066G>A	ENST00000230882.4	+	4	401	c.211G>A	c.(211-213)Gag>Aag	p.E71K	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Missense_Mutation_p.E49K	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	71					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)	CTGGACAGATGAGGTTCATCA	0.453000													71	34					0	0	0.003610	0	0
STX5	6811	broad.mit.edu	37	11	62592938	62592938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:62592938C>T	ENST00000294179.3	-	6	650	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	STX5_ENST00000377897.4_Missense_Mutation_p.R166Q|STX5_ENST00000394690.1_Missense_Mutation_p.R112Q|STX5_ENST00000541317.1_Missense_Mutation_p.R70Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	166					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGCAGGTGCCGGCCACTCTG	0.532000													6	78					0	0	0.003080	0	0
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468000													10	26					0	0	0.006214	0	0
GPR37	2861	broad.mit.edu	37	7	124386647	124386647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:124386647C>T	ENST00000303921.2	-	2	2424	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	592						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCGAGAGTTCGAGTTCCGTG	0.483000													20	116					0	0	0.001882	0	0
NEK4	6787	broad.mit.edu	37	3	52773466	52773466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:52773466G>A	ENST00000233027.5	-	14	2480	c.2278C>T	c.(2278-2280)Cat>Tat	p.H760Y	NEK4_ENST00000535191.1_Missense_Mutation_p.H671Y|NEK4_ENST00000383721.4_Missense_Mutation_p.H714Y	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	760					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTTTAAAATGGATTTCCTCT	0.438000													36	50					0	0	0.005524	0	0
TMTC2	160335	broad.mit.edu	37	12	83289710	83289710	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:83289710G>A	ENST00000549919.1	+	4	2555	c.750G>A	c.(748-750)tcG>tcA	p.S250S	TMTC2_ENST00000321196.3_Silent_p.S256S|TMTC2_ENST00000548305.1_Silent_p.S256S			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	256						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTCCAACTCGGACAACCCCG	0.507000													41	55					0	0	0.002522	0	0
A4GNT	51146	broad.mit.edu	37	3	137849889	137849889	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:137849889G>A	ENST00000236709.3	-	2	411	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	70					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CAGACTCTACGGAACAGGAGA	0.532000													134	159					0	0	0.003610	0	0
CNOT4	4850	broad.mit.edu	37	7	135048708	135048708	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:135048708G>T	ENST00000541284.1	-	11	2068	c.1738C>A	c.(1738-1740)Ccc>Acc	p.P580T	CNOT4_ENST00000451834.1_Missense_Mutation_p.P577T|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	260					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						GCGTTGGAGGGGGAAGAAGAA	0.532000													6	163					0.00116845	0.00817912	0.001168	1	0
DDX59	83479	broad.mit.edu	37	1	200635682	200635682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:200635682G>A	ENST00000447706.2	-	2	338	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	DDX59_ENST00000331314.6_Missense_Mutation_p.P63S|DDX59_ENST00000367348.3_Missense_Mutation_p.P63S			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	63						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CCTGGGCTGGGGAAAGGGCAT	0.517000													14	52					0	0	0.002450	0	0
CA9	768	broad.mit.edu	37	9	35675829	35675829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:35675829C>T	ENST00000378357.4	+	3	609	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	169	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATCCGCCCCCAGCTCGCCGC	0.716000													14	1					0	0	0.002450	0	0
C17orf47	284083	broad.mit.edu	37	17	56620976	56620976	+	Missense_Mutation	SNP	C	C	T	rs140186503		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:56620976C>T	ENST00000321691.3	-	1	753	c.572G>A	c.(571-573)cGt>cAt	p.R191H	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	191										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)					CAAAATCCTACGGGGAACTCT	0.448000													20	60					0	0	0.008871	0	0
KCNT1	57582	broad.mit.edu	37	9	138641983	138641983	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:138641983G>A	ENST00000298480.5	+	3	368	c.294G>A	c.(292-294)aaG>aaA	p.K98K	KCNT1_ENST00000487664.1_Silent_p.K50K|KCNT1_ENST00000491806.2_Silent_p.K65K|KCNT1_ENST00000486577.2_Silent_p.K59K|KCNT1_ENST00000490355.2_Silent_p.K79K|KCNT1_ENST00000371757.2_Silent_p.K98K|KCNT1_ENST00000263604.3_Silent_p.K79K|KCNT1_ENST00000488444.2_Silent_p.K79K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	98						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACACCTTCAAGGAGCGGCTCA	0.607000													25	2					0	0	0.007291	0	0
GABRA6	2559	broad.mit.edu	37	5	161116024	161116024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:161116024G>A	ENST00000523217.1	+	4	507	c.265G>A	c.(265-267)Gag>Aag	p.E89K	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.E99K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	99					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)	GGGGCCAACTGAGATTCTGAG	0.418000										TCGA Ovarian(5;0.080)			41	18					0	0	0.003214	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516465	138516465	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:138516465G>A	ENST00000371763.1	-	5	562	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	103					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGCCTGTCATGAAGTGCTTAT	0.458000													25	6					0	0	0.006320	0	0
FAM214A	56204	broad.mit.edu	37	15	52901077	52901077	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:52901077G>A	ENST00000261844.7	-	6	2186	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	FAM214A_ENST00000546305.2_Silent_p.S685S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	678																	CATTTTTTTTGGAATCATCAG	0.284000													18	33					0	0	0.004990	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:40675132G>A	ENST00000416151.2	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577000													31	50					0	0	0.002836	0	0
MUC5B	727897	broad.mit.edu	37	11	1265993	1265993	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:1265993G>T	ENST00000447027.1	+	31	7950	c.7892G>T	c.(7891-7893)cGc>cTc	p.R2631L	MUC5B_ENST00000529681.1_Missense_Mutation_p.R2628L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2628	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R2607L(1)|p.R2628L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCTTCCA	0.642000													6	91					1.08611e-07	7.83549e-07	0.000978	1	0
ANKRD22	118932	broad.mit.edu	37	10	90582732	90582732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:90582732G>A	ENST00000371930.4	-	6	752	c.542C>T	c.(541-543)tCc>tTc	p.S181F	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	181								p.S181F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCAATCTGGGAAAATTTTAA	0.393000													16	65					0	0	0.004990	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	37					0	0	0.007291	0	0
PENK	5179	broad.mit.edu	37	8	57354022	57354022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:57354022C>T	ENST00000314922.3	-	2	689	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PENK_ENST00000451791.2_Missense_Mutation_p.E205K|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	205					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCTGCAGCTCTTTGGCTTCA	0.517000													33	46					0	0	0.003271	0	0
PTPRC	5788	broad.mit.edu	37	1	198685933	198685933	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:198685933A>T	ENST00000367376.2	+	13	1579	c.1408A>T	c.(1408-1410)Agt>Tgt	p.S470C	PTPRC_ENST00000352140.3_Missense_Mutation_p.S422C|PTPRC_ENST00000348564.6_Missense_Mutation_p.S311C|PTPRC_ENST00000442510.2_Missense_Mutation_p.S472C|PTPRC_ENST00000594404.1_Missense_Mutation_p.S309C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	470	Fibronectin type-III 1.				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						ACGTAATGGAAGTGCTGCAAT	0.303000													21	27					0	0	0.001523	0	0
ABCB5	340273	broad.mit.edu	37	7	20795159	20795159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:20795159G>A	ENST00000404938.2	+	28	4338	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	ABCB5_ENST00000258738.6_Missense_Mutation_p.G784E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	784					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						CTGCACAATGGAAAGATAAAG	0.448000													10	10					0	0	0.006214	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645910	62645910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:62645910G>A	ENST00000337910.5	-	7	1872	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.A512V	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	512	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCCGAACATGGCTGCCATCCA	0.488000													10	63					0	0	0.008291	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042177	59042177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:59042177C>T	ENST00000371225.2	-	1	989	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	218					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TCGCCGATATCCACGTCACCG	0.652000													3	9					0	0	0.000602	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604592	58604592	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:58604592C>T	ENST00000287275.1	-	5	762	c.372G>A	c.(370-372)caG>caA	p.Q124Q	GLYATL2_ENST00000532258.1_Silent_p.Q124Q|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	124						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTAATCTACCTGCACTGATT	0.393000													21	25					0	0	0.008871	0	0
SLIT3	6586	broad.mit.edu	37	5	168671712	168671712	+	Missense_Mutation	SNP	C	C	T	rs144462879	by1000genomes	TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:168671712C>T	ENST00000519560.1	-	3	757	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.R113Q|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Missense_Mutation_p.R113Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	113					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTTACAGTCGCTCTAGCTG	0.413000													4	25					0	0	0.000248	0	0
C6orf58	352999	broad.mit.edu	37	6	127911457	127911457	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:127911457G>A	ENST00000329722.7	+	5	912	c.900G>A	c.(898-900)gtG>gtA	p.V300V		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	300						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTGACAATGTGGATAAATCTA	0.308000													19	31					0	0	0.001523	0	0
CR2	1380	broad.mit.edu	37	1	207646442	207646442	+	Silent	SNP	T	T	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:207646442T>C	ENST00000367057.3	+	10	2085	c.1896T>C	c.(1894-1896)agT>agC	p.S632S	CR2_ENST00000367059.3_Silent_p.S632S|CR2_ENST00000458541.2_Silent_p.S605S|CR2_ENST00000367058.3_Silent_p.S632S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	632	Sushi 10.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTGTTATAGTGGATTTACTT	0.408000													14	45					0	0	0.003163	0	0
MBNL1	4154	broad.mit.edu	37	3	152150590	152150590	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:152150590C>T	ENST00000282486.6	+	4	2272	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	MBNL1_ENST00000485509.1_Silent_p.L144L|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000463374.1_Silent_p.L144L|MBNL1_ENST00000324210.5_Silent_p.L144L|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Silent_p.L87L|MBNL1_ENST00000324196.5_Silent_p.L144L|MBNL1_ENST00000492948.1_Silent_p.L144L|MBNL1_ENST00000355460.2_Silent_p.L144L|MBNL1_ENST00000498502.1_Silent_p.L144L|MBNL1_ENST00000357472.3_Silent_p.L144L			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	144					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTCCAAGCCTGGTCCCGGC	0.498000													42	110					0	0	0.002522	0	0
CSMD1	64478	broad.mit.edu	37	8	3081381	3081381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:3081381C>T	ENST00000602557.1	-	29	4912	c.4357G>A	c.(4357-4359)Gga>Aga	p.G1453R	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1453R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1453R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1452R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1452R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1452R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1453R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1453	CUB 9.					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)		AGATTCCCTCCACAAGCAGCT	0.493000													5	13					0	0	0.001168	0	0
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr19:35757850C>T	ENST00000602122.1	+	7	1695	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	LSR_ENST00000427250.1_Missense_Mutation_p.P267L|LSR_ENST00000361790.3_Missense_Mutation_p.P423L|LSR_ENST00000354900.3_Missense_Mutation_p.P404L|LSR_ENST00000360798.3_Missense_Mutation_p.P355L|LSR_ENST00000347609.4_Missense_Mutation_p.P365L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622000													10	24					0	0	0.001368	0	0
OR52M1	119772	broad.mit.edu	37	11	4566516	4566516	+	Silent	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:4566516C>T	ENST00000360213.1	+	1	96	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCATCCCCTTTGGCTCCA	0.542000													9	55					0	0	0.004482	0	0
GBX2	2637	broad.mit.edu	37	2	237074899	237074899	+	Silent	SNP	G	G	A	rs113681406		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:237074899G>A	ENST00000306318.4	-	2	1102	c.705C>T	c.(703-705)agC>agT	p.S235S	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	235				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCGCGGCGCCGCTGCTCGGCG	0.662000													8	40					0	0	0.003080	0	0
MON1B	22879	broad.mit.edu	37	16	77225452	77225452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:77225452C>T	ENST00000248248.3	+	2	420	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.P24S|MON1B_ENST00000439557.2_Missense_Mutation_p.P24S	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	24							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACGCAGTTCCCCAGTGAGGA	0.647000													3	9					0	0	0.004672	0	0
C7	730	broad.mit.edu	37	5	40959604	40959604	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:40959604G>C	ENST00000313164.9	+	12	1902	c.1543G>C	c.(1543-1545)Ggg>Cgg	p.G515R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	515	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGTCCAAGGGAAGAAAAC	0.498000													4	13					0	0	0.000602	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328390	61328390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:61328390T>A	ENST00000283752.5	-	2	204	c.61A>T	c.(61-63)Aaa>Taa	p.K21*	SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.K21*|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	21					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTTGATTTTCTGAACTGT	0.428000													10	66					0	0	0.008291	0	0
LRP2	4036	broad.mit.edu	37	2	170019096	170019096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:170019096G>A	ENST00000263816.3	-	63	12058	c.11773C>T	c.(11773-11775)Cct>Tct	p.P3925S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3925					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)	CAAGGTTTAGGGGTCGGTTTT	0.388000													15	31					0	0	0.004990	0	0
ZFP57	346171	broad.mit.edu	37	6	29643801	29643801	+	Silent	SNP	G	G	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:29643801G>A	ENST00000376883.1	-	4	510	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ZFP57_ENST00000488757.1_Silent_p.F53F|ZFP57_ENST00000376881.3_Silent_p.F33F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	25	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.F33L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTCCTGGGTGAAATTCACTG	0.448000													40	58					0	0	0.003214	0	0
FCRLB	127943	broad.mit.edu	37	1	161693304	161693304	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:161693304T>G	ENST00000367948.2	+	5	415	c.200T>G	c.(199-201)cTt>cGt	p.L67R	FCRLB_ENST00000392158.1_Missense_Mutation_p.L67R|FCRLB_ENST00000336830.5_Missense_Mutation_p.L67R|FCRLB_ENST00000367944.3_Missense_Mutation_p.L60R|FCRLB_ENST00000367945.1_Missense_Mutation_p.L60R|FCRLB_ENST00000367946.3_Missense_Mutation_p.L67R			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	67	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGCCACCTACTTCTGCCCTCT	0.557000													8	63					0	0	0.003080	0	0
OR5C1	392391	broad.mit.edu	37	9	125552169	125552169	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:125552169C>A	ENST00000373680.2	+	1	1020	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCAGGGGTCCCAGTGATTGGT	0.597000													20	15					8.10497e-08	5.90744e-07	0.001523	1	0
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cggcfs	p.RG602fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	602					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752													2	4	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32896297	32896297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:32896297delG	ENST00000452533.2	+	19	2250	c.2086delG	c.(2086-2088)gafs	p.G696fs	DNM1L_ENST00000414834.2_Frame_Shift_Del_p.G519fs|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.G711fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.G735fs|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.G722fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.G724fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.G698fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.G685fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	722	GED.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCATTACAAGGAGCCAGTCA	0.323													10	21	---	---	---	---					
CLK3	1198	broad.mit.edu	37	15	74908164	74908164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:74908164delG	ENST00000395066.3	+	1	830	c.369delG	c.(367-369)gcfs	p.A123fs	CLK3_ENST00000345005.4_Intron	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	123						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGCCACGGGCGGAGGTCGCAG	0.756													2	4	---	---	---	---					
GNPTG	84572	broad.mit.edu	37	16	1412536	1412537	+	Splice_Site	INS	-	-	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:1412536_1412537insT	ENST00000204679.4	+	8	652		c.e8+1			NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit							extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CACCCCCCAGGTAAGCGTGCGC	0.653													23	10	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808240	77808241	+	In_Frame_Ins	INS	-	-	GTG	rs3833850		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:77808240_77808241insGTG	ENST00000269397.4	-	5	1377_1378	c.1200_1201insCAC	c.(1198-1203)caccgt>caCACccgt	p.400_401HR>HTR		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCGACGGCgtggtggtggt	0.703													4	7	---	---	---	---